{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,24]],"date-time":"2026-10-24T00:33:35Z","timestamp":1792802015202,"version":"4.5.0"},"reference-count":227,"publisher":"American Society of Hematology","issue":"23","license":[{"start":{"date-parts":[[2025,2,19]],"date-time":"2025-02-19T00:00:00Z","timestamp":1739923200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["ashpublications.org"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2025,6,5]]},"abstract":"<jats:sec>\n                  <jats:title>Abstract<\/jats:title>\n                  <jats:p>Immune cell functionality is highly dependent on the actin cytoskeleton. The actin cytoskeleton is regulated by a complex molecular machinery that involves multiple genes. Mutations in these genes can cause inborn errors of immunity, also termed immunoactinopathies, of which Wiskott-Aldrich syndrome is the best-characterized entity. Currently, mutations in 23 genes can be considered causative of immunoactinopathies. Immunoactinopathies are rare disease entities with complex combinations of clinical manifestations, including immunodeficiency, immune dysregulation, malignancies, atopy, thrombocytopenia and bleeding, skin involvement, or congenital defects. Prompt diagnosis is crucial, because hematopoietic stem cell transplantation in an early phase can offer cure and prevent further complications. This review provides a detailed summary of the clinical experience with immunoactinopathies so far, elaborates on the most distinguishing features of immunoactinopathies by providing a clinical categorization, and links this information to the underlying biological pathways. This information may be of help to clinicians in the diagnosis of patients and to eventually improve patient care.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1182\/blood.2024026763","type":"journal-article","created":{"date-parts":[[2025,2,19]],"date-time":"2025-02-19T19:58:04Z","timestamp":1739995084000},"page":"2709-2732","update-policy":"https:\/\/doi.org\/10.1182\/blood.2019cm0000","source":"Crossref","is-referenced-by-count":10,"title":["Immunoactinopathies revisited: understanding clinical manifestations and biological pathways"],"prefix":"10.1182","volume":"145","author":[{"ORCID":"https:\/\/orcid.org\/0009-0002-5690-1425","authenticated-orcid":false,"given":"Fleur","family":"Hiensch","sequence":"first","affiliation":[{"name":"1Department of Pediatrics, Laboratory for Pediatric Immunology, Willem-Alexander Children\u2019s Hospital, Leiden University Medical Center, Leiden, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7278-6503","authenticated-orcid":false,"given":"Lo\u00efc","family":"Dupr\u00e9","sequence":"additional","affiliation":[{"name":"2Toulouse Institute for Infectious and Inflammatory Diseases, Institut National de la Sant\u00e9 et de la Recherche M\u00e9dicale, Centre National de la Recherche Scientifique, Toulouse University, Toulouse, France"},{"name":"3Department of Dermatology, Medical University of Vienna, Vienna, Austria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8118-4934","authenticated-orcid":false,"given":"Elisabeth","family":"Salzer","sequence":"additional","affiliation":[{"name":"1Department of Pediatrics, Laboratory for Pediatric Immunology, Willem-Alexander Children\u2019s Hospital, Leiden University Medical Center, Leiden, The Netherlands"},{"name":"4Division of Neonatology, Pediatric Intensive Care, and Neuropediatrics, Department of Pediatrics and Adolescent Medicine, Medical University of Vienna, Vienna, Austria"},{"name":"5Department of Pediatrics, St. Anna Children\u2019s Hospital, Medical University of Vienna, Vienna, Austria"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"234","reference":[{"issue":"12","key":"2025060511213742800_bib99","doi-asserted-by":"crossref","first-page":"836","DOI":"10.1038\/s41580-022-00508-4","article-title":"Biochemical and mechanical regulation of actin dynamics","volume":"23","author":"Lappalainen","year":"2022","journal-title":"Nat Rev Mol Cell Biol"},{"issue":"9","key":"2025060511213742800_bib1","doi-asserted-by":"crossref","first-page":"e3001794","DOI":"10.1371\/journal.pbio.3001794","article-title":"Nascent RHOH acts as a molecular brake on actomyosin-mediated effector functions of inflammatory neutrophils","volume":"20","author":"Peng","year":"2022","journal-title":"PLoS Biol"},{"issue":"12","key":"2025060511213742800_bib2","doi-asserted-by":"crossref","first-page":"1352","DOI":"10.1038\/ni.3575","article-title":"RASGRP1 deficiency causes immunodeficiency with impaired cytoskeletal dynamics","volume":"17","author":"Salzer","year":"2016","journal-title":"Nat Immunol"},{"issue":"6","key":"2025060511213742800_bib3","doi-asserted-by":"crossref","first-page":"259","DOI":"10.1016\/j.it.2013.02.004","article-title":"Ras and extracellular signal-regulated kinase signaling in thymocytes and T cells","volume":"34","author":"Kortum","year":"2013","journal-title":"Trends Immunol"},{"issue":"6","key":"2025060511213742800_bib4","doi-asserted-by":"crossref","first-page":"699","DOI":"10.1007\/s10875-018-0533-8","article-title":"Novel mutations in RASGRP1 are associated with immunodeficiency, immune dysregulation, and EBV-induced lymphoma [published correction appears in J Clin Immunol. 2018;38(6):711]","volume":"38","author":"Somekh","year":"2018","journal-title":"J Clin Immunol"},{"key":"2025060511213742800_bib5","doi-asserted-by":"crossref","first-page":"142","DOI":"10.1016\/j.clim.2017.08.007","article-title":"Combined immunodeficiency with EBV positive B cell lymphoma and epidermodysplasia verruciformis due to a novel homozygous mutation in RASGRP1","volume":"183","author":"Platt","year":"2017","journal-title":"Clin Immunol"},{"issue":"2","key":"2025060511213742800_bib6","doi-asserted-by":"crossref","first-page":"188","DOI":"10.15252\/emmm.201708292","article-title":"Loss of RASGRP1 in humans impairs T-cell expansion leading to Epstein-Barr virus susceptibility","volume":"10","author":"Winter","year":"2018","journal-title":"EMBO Mol Med"},{"issue":"6","key":"2025060511213742800_bib7","doi-asserted-by":"crossref","first-page":"1160","DOI":"10.1007\/s10875-022-01281-x","article-title":"Two novel biallelic RASGRP1 mutations presenting with immunodeficiency, Hodgkin's lymphoma, and autoimmunity","volume":"42","author":"Momenilandi","year":"2022","journal-title":"J Clin Immunol"},{"issue":"11","key":"2025060511213742800_bib8","doi-asserted-by":"crossref","first-page":"1307","DOI":"10.1038\/ni.1662","article-title":"The actin regulator coronin 1A is mutant in a thymic egress-deficient mouse strain and in a patient with severe combined immunodeficiency","volume":"9","author":"Shiow","year":"2008","journal-title":"Nat Immunol"},{"issue":"1","key":"2025060511213742800_bib9","doi-asserted-by":"crossref","first-page":"121","DOI":"10.1111\/imr.12716","article-title":"Primary immunodeficiencies caused by mutations in actin regulatory proteins","volume":"287","author":"Janssen","year":"2019","journal-title":"Immunol Rev"},{"issue":"1","key":"2025060511213742800_bib10","doi-asserted-by":"crossref","first-page":"282","DOI":"10.1111\/imr.12114","article-title":"Actin cytoskeletal defects in immunodeficiency","volume":"256","author":"Moulding","year":"2013","journal-title":"Immunol Rev"},{"issue":"4","key":"2025060511213742800_bib11","doi-asserted-by":"crossref","first-page":"435","DOI":"10.1016\/S0092-8674(00)80754-0","article-title":"A coat protein on phagosomes involved in the intracellular survival of mycobacteria","volume":"97","author":"Ferrari","year":"1999","journal-title":"Cell"},{"issue":"5788","key":"2025060511213742800_bib12","doi-asserted-by":"crossref","first-page":"839","DOI":"10.1126\/science.1130563","article-title":"Requirement for coronin 1 in T lymphocyte trafficking and cellular homeostasis","volume":"313","author":"Foger","year":"2006","journal-title":"Science"},{"issue":"12","key":"2025060511213742800_bib13","doi-asserted-by":"crossref","first-page":"481","DOI":"10.1007\/s11882-014-0481-1","article-title":"The expanding spectrum of human coronin 1A deficiency","volume":"14","author":"Moshous","year":"2014","journal-title":"Curr Allergy Asthma Rep"},{"issue":"6","key":"2025060511213742800_bib14","doi-asserted-by":"crossref","first-page":"1594","DOI":"10.1016\/j.jaci.2013.01.042","article-title":"Whole-exome sequencing identifies coronin-1A deficiency in 3 siblings with immunodeficiency and EBV-associated B-cell lymphoproliferation","volume":"131","author":"Moshous","year":"2013","journal-title":"J Allergy Clin Immunol"},{"issue":"10","key":"2025060511213742800_bib15","doi-asserted-by":"crossref","first-page":"e3467","DOI":"10.1371\/journal.pone.0003467","article-title":"Coronin-1A links cytoskeleton dynamics to TCR alpha beta-induced cell signaling","volume":"3","author":"Mugnier","year":"2008","journal-title":"PLoS One"},{"issue":"1","key":"2025060511213742800_bib16","doi-asserted-by":"crossref","first-page":"3","DOI":"10.1159\/000509717","article-title":"When actin is not actin' like it should: a new category of distinct primary immunodeficiency disorders","volume":"13","author":"Sprenkeler","year":"2021","journal-title":"J Innate Immun"},{"issue":"10","key":"2025060511213742800_bib17","doi-asserted-by":"crossref","first-page":"3752","DOI":"10.1016\/j.jaip.2021.05.032","article-title":"Diversity in serine\/threonine protein kinase-4 deficiency and review of the literature","volume":"9","author":"Cagdas","year":"2021","journal-title":"J Allergy Clin Immunol Pract"},{"key":"2025060511213742800_bib18","doi-asserted-by":"crossref","first-page":"750537","DOI":"10.3389\/fimmu.2021.750537","article-title":"Molecular tuning of actin dynamics in leukocyte migration as revealed by immune-related actinopathies","volume":"12","author":"Kamnev","year":"2021","journal-title":"Front Immunol"},{"issue":"5","key":"2025060511213742800_bib19","doi-asserted-by":"crossref","first-page":"1683","DOI":"10.4049\/jimmunol.1600874","article-title":"Mst1 kinase regulates the actin-bundling protein L-plastin to promote T cell migration","volume":"197","author":"Xu","year":"2016","journal-title":"J Immunol"},{"issue":"2","key":"2025060511213742800_bib20","doi-asserted-by":"crossref","first-page":"117","DOI":"10.1007\/s10875-016-0232-2","article-title":"Defective leukocyte adhesion and chemotaxis contributes to combined immunodeficiency in humans with autosomal recessive MST1 deficiency [published correction appears in J Clin Immunol. 2016;36(3):336-337]","volume":"36","author":"Dang","year":"2016","journal-title":"J Clin Immunol"},{"issue":"2","key":"2025060511213742800_bib21","doi-asserted-by":"crossref","first-page":"316","DOI":"10.1016\/j.clim.2015.06.010","article-title":"STK4 (MST1) deficiency in two siblings with autoimmune cytopenias: a novel mutation","volume":"161","author":"Halacli","year":"2015","journal-title":"Clin Immunol"},{"issue":"15","key":"2025060511213742800_bib22","doi-asserted-by":"crossref","first-page":"3450","DOI":"10.1182\/blood-2011-09-378158","article-title":"The phenotype of human STK4 deficiency","volume":"119","author":"Abdollahpour","year":"2012","journal-title":"Blood"},{"issue":"15","key":"2025060511213742800_bib23","doi-asserted-by":"crossref","first-page":"3458","DOI":"10.1182\/blood-2011-09-378364","article-title":"MST1 mutations in autosomal recessive primary immunodeficiency characterized by defective naive T-cell survival","volume":"119","author":"Nehme","year":"2012","journal-title":"Blood"},{"issue":"9","key":"2025060511213742800_bib24","doi-asserted-by":"crossref","first-page":"e73874","DOI":"10.1371\/journal.pone.0073874","article-title":"Antigen-specific suppression and immunological synapse formation by regulatory T cells require the Mst1 kinase","volume":"8","author":"Tomiyama","year":"2013","journal-title":"PLoS One"},{"issue":"8","key":"2025060511213742800_bib25","doi-asserted-by":"crossref","first-page":"e00424-16","DOI":"10.1128\/MCB.00424-16","article-title":"NDR1-dependent regulation of kindlin-3 controls high-affinity LFA-1 binding and immune synapse organization","volume":"37","author":"Kondo","year":"2017","journal-title":"Mol Cell Biol"},{"issue":"12","key":"2025060511213742800_bib26","doi-asserted-by":"crossref","first-page":"6062","DOI":"10.4049\/jimmunol.1303348","article-title":"Essential role of Elmo1 in Dock2-dependent lymphocyte migration","volume":"192","author":"Stevenson","year":"2014","journal-title":"J Immunol"},{"issue":"1","key":"2025060511213742800_bib27","doi-asserted-by":"crossref","first-page":"5","DOI":"10.1093\/intimm\/dxz067","article-title":"DOCK family proteins: key players in immune surveillance mechanisms","volume":"32","author":"Kunimura","year":"2020","journal-title":"Int Immunol"},{"issue":"25","key":"2025060511213742800_bib28","doi-asserted-by":"crossref","first-page":"2409","DOI":"10.1056\/NEJMoa1413462","article-title":"Inherited DOCK2 deficiency in patients with early-onset invasive infections","volume":"372","author":"Dobbs","year":"2015","journal-title":"N Engl J Med"},{"issue":"3","key":"2025060511213742800_bib29","doi-asserted-by":"crossref","first-page":"298","DOI":"10.1007\/s10875-019-00603-w","article-title":"Human DOCK2 deficiency: report of a novel mutation and evidence for neutrophil dysfunction","volume":"39","author":"Moens","year":"2019","journal-title":"J Clin Immunol"},{"issue":"6849","key":"2025060511213742800_bib30","doi-asserted-by":"crossref","first-page":"826","DOI":"10.1038\/35090591","article-title":"Haematopoietic cell-specific CDM family protein DOCK2 is essential for lymphocyte migration","volume":"412","author":"Fukui","year":"2001","journal-title":"Nature"},{"issue":"12","key":"2025060511213742800_bib31","first-page":"2721","article-title":"Annular PIP3 accumulation controls actin architecture and modulates cytotoxicity at the immunological synapse [published correction appears in J Exp Med. 2017;214(4):1203]","volume":"210","author":"Le Floc'h","year":"2013","journal-title":"J Exp Med"},{"issue":"5037","key":"2025060511213742800_bib32","doi-asserted-by":"crossref","first-page":"1512","DOI":"10.1126\/science.1660188","article-title":"Regulation of phagocyte oxygen radical production by the GTP-binding protein Rac 2","volume":"254","author":"Knaus","year":"1991","journal-title":"Science"},{"issue":"22","key":"2025060511213742800_bib33","doi-asserted-by":"crossref","first-page":"3674","DOI":"10.1016\/j.cub.2018.10.002","article-title":"Distinct interaction sites of Rac GTPase with WAVE regulatory complex have non-redundant functions in vivo","volume":"28","author":"Schaks","year":"2018","journal-title":"Curr Biol"},{"issue":"18","key":"2025060511213742800_bib34","doi-asserted-by":"crossref","first-page":"1977","DOI":"10.1182\/blood-2018-11-886028","article-title":"Dominant activating RAC2 mutation with lymphopenia, immunodeficiency, and cytoskeletal defects","volume":"133","author":"Hsu","year":"2019","journal-title":"Blood"},{"issue":"15","key":"2025060511213742800_bib35","doi-asserted-by":"crossref","first-page":"1476","DOI":"10.1182\/blood.2023022098","article-title":"Clinical and functional spectrum of RAC2-related immunodeficiency","volume":"143","author":"Donko","year":"2024","journal-title":"Blood"},{"issue":"10","key":"2025060511213742800_bib36","doi-asserted-by":"crossref","first-page":"e20231562","DOI":"10.1084\/jem.20231562","article-title":"RAC2 gain-of-function variants causing inborn error of immunity drive NLRP3 inflammasome activation","volume":"221","author":"Doye","year":"2024","journal-title":"J Exp Med"},{"key":"2025060511213742800_bib37","doi-asserted-by":"crossref","first-page":"1624","DOI":"10.3389\/fimmu.2017.01624","article-title":"Exome sequencing identifies a novel MAP3K14 mutation in recessive atypical combined immunodeficiency","volume":"8","author":"Schlechter","year":"2017","journal-title":"Front Immunol"},{"key":"2025060511213742800_bib38","doi-asserted-by":"crossref","first-page":"5360","DOI":"10.1038\/ncomms6360","article-title":"Biallelic loss-of-function mutation in NIK causes a primary immunodeficiency with multifaceted aberrant lymphoid immunity","volume":"5","author":"Willmann","year":"2014","journal-title":"Nat Commun"},{"issue":"7988","key":"2025060511213742800_bib39","doi-asserted-by":"crossref","first-page":"803","DOI":"10.1038\/s41586-023-06717-x","article-title":"Autoantibodies against type I IFNs in humans with alternative NF-kappaB pathway deficiency","volume":"623","author":"Le Voyer","year":"2023","journal-title":"Nature"},{"issue":"6","key":"2025060511213742800_bib40","doi-asserted-by":"crossref","first-page":"1681","DOI":"10.1016\/j.jaci.2016.04.032","article-title":"X-linked primary immunodeficiency associated with hemizygous mutations in the moesin (MSN) gene","volume":"138","author":"Lagresle-Peyrou","year":"2016","journal-title":"J Allergy Clin Immunol"},{"issue":"4","key":"2025060511213742800_bib41","doi-asserted-by":"crossref","first-page":"336","DOI":"10.1007\/s10875-017-0391-9","article-title":"First case of X-linked moesin deficiency identified after newborn screening for SCID","volume":"37","author":"Delmonte","year":"2017","journal-title":"J Clin Immunol"},{"issue":"4","key":"2025060511213742800_bib42","doi-asserted-by":"crossref","first-page":"733","DOI":"10.1083\/jcb.200707199","article-title":"Immune synapse formation requires ZAP-70 recruitment by ezrin and CD43 removal by moesin","volume":"179","author":"Ilani","year":"2007","journal-title":"J Cell Biol"},{"issue":"12","key":"2025060511213742800_bib43","doi-asserted-by":"crossref","first-page":"2778","DOI":"10.1084\/jem.20190147","article-title":"A novel disorder involving dyshematopoiesis, inflammation, and HLH due to aberrant CDC42 function","volume":"216","author":"Lam","year":"2019","journal-title":"J Exp Med"},{"issue":"6984","key":"2025060511213742800_bib44","doi-asserted-by":"crossref","first-page":"767","DOI":"10.1038\/nature02452","article-title":"Cdc42 and mDia3 regulate microtubule attachment to kinetochores","volume":"428","author":"Yasuda","year":"2004","journal-title":"Nature"},{"issue":"11","key":"2025060511213742800_bib45","doi-asserted-by":"crossref","first-page":"102564","DOI":"10.1016\/j.jbc.2022.102564","article-title":"The brain-specific splice variant of the CDC42 GTPase works together with the kinase ACK to downregulate the EGF receptor in promoting neurogenesis","volume":"298","author":"Endo","year":"2022","journal-title":"J Biol Chem"},{"issue":"5","key":"2025060511213742800_bib46","doi-asserted-by":"crossref","first-page":"2159","DOI":"10.4049\/jimmunol.1200156","article-title":"Cytokine secretion by CD4+ T cells at the immunological synapse requires Cdc42-dependent local actin remodeling but not microtubule organizing center polarity","volume":"189","author":"Chemin","year":"2012","journal-title":"J Immunol"},{"issue":"9","key":"2025060511213742800_bib47","doi-asserted-by":"crossref","first-page":"e221","DOI":"10.1371\/journal.pbio.0050221","article-title":"An actin-based wave generator organizes cell motility","volume":"5","author":"Weiner","year":"2007","journal-title":"PLoS Biol"},{"issue":"49","key":"2025060511213742800_bib48","doi-asserted-by":"crossref","first-page":"eabc3979","DOI":"10.1126\/sciimmunol.abc3979","article-title":"The cytoskeletal regulator HEM1 governs B cell development and prevents autoimmunity","volume":"5","author":"Salzer","year":"2020","journal-title":"Sci Immunol"},{"issue":"6500","key":"2025060511213742800_bib49","doi-asserted-by":"crossref","first-page":"202","DOI":"10.1126\/science.aay5663","article-title":"HEM1 deficiency disrupts mTORC2 and F-actin control in inherited immunodysregulatory disease","volume":"369","author":"Cook","year":"2020","journal-title":"Science"},{"issue":"2","key":"2025060511213742800_bib50","doi-asserted-by":"crossref","first-page":"e38","DOI":"10.1371\/journal.pbio.0040038","article-title":"Hem-1 complexes are essential for Rac activation, actin polymerization, and myosin regulation during neutrophil chemotaxis","volume":"4","author":"Weiner","year":"2006","journal-title":"PLoS Biol"},{"issue":"22","key":"2025060511213742800_bib51","first-page":"2713","article-title":"DOCK11 deficiency in patients with X-linked actinopathy and autoimmunity","volume":"141","author":"Boussard","year":"2023","journal-title":"Blood"},{"issue":"6","key":"2025060511213742800_bib52","doi-asserted-by":"crossref","first-page":"527","DOI":"10.1056\/NEJMoa2210054","article-title":"Systemic inflammation and normocytic anemia in DOCK11 deficiency","volume":"389","author":"Block","year":"2023","journal-title":"N Engl J Med"},{"issue":"2","key":"2025060511213742800_bib53","doi-asserted-by":"crossref","first-page":"740","DOI":"10.1016\/j.jaci.2020.05.052","article-title":"DEF6 deficiency, a mendelian susceptibility to EBV infection, lymphoma, and autoimmunity","volume":"147","author":"Fournier","year":"2021","journal-title":"J Allergy Clin Immunol"},{"issue":"1","key":"2025060511213742800_bib54","doi-asserted-by":"crossref","first-page":"3106","DOI":"10.1038\/s41467-019-10812-x","article-title":"Human DEF6 deficiency underlies an immunodeficiency syndrome with systemic autoimmunity and aberrant CTLA-4 homeostasis [published correction appears in Nat Commun. 2019;10(1):4555]","volume":"10","author":"Serwas","year":"2019","journal-title":"Nat Commun"},{"issue":"3","key":"2025060511213742800_bib55","doi-asserted-by":"crossref","first-page":"703","DOI":"10.1172\/JCI24096","article-title":"Loss of IRF-4-binding protein leads to the spontaneous development of systemic autoimmunity","volume":"116","author":"Fanzo","year":"2006","journal-title":"J Clin Invest"},{"issue":"6","key":"2025060511213742800_bib56","doi-asserted-by":"crossref","first-page":"1021","DOI":"10.1016\/j.ajhg.2017.11.006","article-title":"ACTB loss-of-function mutations result in a pleiotropic developmental disorder","volume":"101","author":"Cuvertino","year":"2017","journal-title":"Am J Hum Genet"},{"key":"2025060511213742800_bib57","doi-asserted-by":"crossref","first-page":"1406781","DOI":"10.3389\/fimmu.2024.1406781","article-title":"Immune dysregulation due to bi-allelic mutation of the actin remodeling protein DIAPH1","volume":"15","author":"Bhattad","year":"2024","journal-title":"Front Immunol"},{"issue":"2","key":"2025060511213742800_bib58","doi-asserted-by":"crossref","first-page":"599","DOI":"10.1016\/j.jaci.2020.12.656","article-title":"Loss of DIAPH1 causes SCBMS, combined immunodeficiency, and mitochondrial dysfunction","volume":"148","author":"Kaustio","year":"2021","journal-title":"J Allergy Clin Immunol"},{"issue":"9","key":"2025060511213742800_bib59","doi-asserted-by":"crossref","first-page":"4313","DOI":"10.1210\/en.2010-0044","article-title":"RhoA and DIAPH1 mediate adrenocorticotropin-stimulated cortisol biosynthesis by regulating mitochondrial trafficking","volume":"151","author":"Li","year":"2010","journal-title":"Endocrinology"},{"issue":"Pt 4","key":"2025060511213742800_bib60","doi-asserted-by":"crossref","first-page":"659","DOI":"10.1242\/jcs.02762","article-title":"Regulation of mitochondria distribution by RhoA and formins","volume":"119","author":"Minin","year":"2006","journal-title":"J Cell Sci"},{"issue":"2","key":"2025060511213742800_bib61","doi-asserted-by":"crossref","first-page":"165","DOI":"10.1038\/ejhg.2014.82","article-title":"Homozygous loss of DIAPH1 is a novel cause of microcephaly in humans","volume":"23","author":"Ercan-Sencicek","year":"2015","journal-title":"Eur J Hum Genet"},{"key":"2025060511213742800_bib62","first-page":"4142214","article-title":"Homozygous autosomal recessive DIAPH1 mutation associated with central nervous system involvement and aspergillosis: a rare case","volume":"2022","author":"Esmaeilzadeh","year":"2022","journal-title":"Case Rep Genet"},{"issue":"23","key":"2025060511213742800_bib63","doi-asserted-by":"crossref","first-page":"2903","DOI":"10.1182\/blood-2015-10-675629","article-title":"A gain-of-function variant in DIAPH1 causes dominant macrothrombocytopenia and hearing loss","volume":"127","author":"Stritt","year":"2016","journal-title":"Blood"},{"issue":"1","key":"2025060511213742800_bib64","doi-asserted-by":"crossref","first-page":"16","DOI":"10.1097\/MOH.0000000000000296","article-title":"Primary immunodeficiencies due to abnormalities of the actin cytoskeleton","volume":"24","author":"Burns","year":"2017","journal-title":"Curr Opin Hematol"},{"issue":"3","key":"2025060511213742800_bib65","doi-asserted-by":"crossref","first-page":"182","DOI":"10.1038\/nri2724","article-title":"WASP: a key immunological multitasker","volume":"10","author":"Thrasher","year":"2010","journal-title":"Nat Rev Immunol"},{"issue":"4","key":"2025060511213742800_bib66","doi-asserted-by":"crossref","first-page":"725","DOI":"10.1016\/j.jaci.2006.02.005","article-title":"The Wiskott-Aldrich syndrome","volume":"117","author":"Ochs","year":"2006","journal-title":"J Allergy Clin Immunol"},{"issue":"2","key":"2025060511213742800_bib67","doi-asserted-by":"crossref","first-page":"157","DOI":"10.1016\/S1074-7613(02)00360-6","article-title":"Wiskott-Aldrich syndrome protein regulates lipid raft dynamics during immunological synapse formation","volume":"17","author":"Dupre","year":"2002","journal-title":"Immunity"},{"issue":"3","key":"2025060511213742800_bib68","doi-asserted-by":"crossref","first-page":"1658","DOI":"10.4049\/jimmunol.173.3.1658","article-title":"Differential roles for Wiskott-Aldrich syndrome protein in immune synapse formation and IL-2 production","volume":"173","author":"Cannon","year":"2004","journal-title":"J Immunol"},{"issue":"11","key":"2025060511213742800_bib69","doi-asserted-by":"crossref","first-page":"3872","DOI":"10.1182\/blood.V94.11.3872","article-title":"Spontaneous apoptosis in lymphocytes from patients with Wiskott-Aldrich syndrome: correlation of accelerated cell death and attenuated bcl-2 expression","volume":"94","author":"Rawlings","year":"1999","journal-title":"Blood"},{"issue":"4","key":"2025060511213742800_bib70","doi-asserted-by":"crossref","first-page":"1283","DOI":"10.1182\/blood.V95.4.1283.004k44_1283_1292","article-title":"Actin cytoskeletal function is spared, but apoptosis is increased, in WAS patient hematopoietic cells","volume":"95","author":"Rengan","year":"2000","journal-title":"Blood"},{"issue":"5","key":"2025060511213742800_bib71","doi-asserted-by":"crossref","first-page":"733","DOI":"10.1084\/jem.20151724","article-title":"B cell IFN-gamma receptor signaling promotes autoimmune germinal centers via cell-intrinsic induction of BCL-6","volume":"213","author":"Jackson","year":"2016","journal-title":"J Exp Med"},{"issue":"10","key":"2025060511213742800_bib72","doi-asserted-by":"crossref","first-page":"1663","DOI":"10.1084\/jem.20150585","article-title":"Altered BCR and TLR signals promote enhanced positive selection of autoreactive transitional B cells in Wiskott-Aldrich syndrome","volume":"212","author":"Kolhatkar","year":"2015","journal-title":"J Exp Med"},{"issue":"10","key":"2025060511213742800_bib73","doi-asserted-by":"crossref","first-page":"2773","DOI":"10.1002\/eji.201545644","article-title":"B-cell intrinsic TLR7 signals promote depletion of the marginal zone in a murine model of Wiskott-Aldrich syndrome [published correction appears in Eur J Immunol. 2016;46(3):782]","volume":"45","author":"Kolhatkar","year":"2015","journal-title":"Eur J Immunol"},{"issue":"10","key":"2025060511213742800_bib74","doi-asserted-by":"crossref","first-page":"2033","DOI":"10.1084\/jem.20110200","article-title":"WASp-deficient B cells play a critical, cell-intrinsic role in triggering autoimmunity","volume":"208","author":"Becker-Herman","year":"2011","journal-title":"J Exp Med"},{"key":"2025060511213742800_bib75","doi-asserted-by":"crossref","first-page":"12175","DOI":"10.1038\/ncomms12175","article-title":"Deletion of Wiskott-Aldrich syndrome protein triggers Rac2 activity and increased cross-presentation by dendritic cells","volume":"7","author":"Baptista","year":"2016","journal-title":"Nat Commun"},{"issue":"17","key":"2025060511213742800_bib76","doi-asserted-by":"crossref","first-page":"1949","DOI":"10.1182\/blood-2017-04-777383","article-title":"WIP deficiency severely affects human lymphocyte architecture during migration and synapse assembly","volume":"130","author":"Pfajfer","year":"2017","journal-title":"Blood"},{"issue":"4","key":"2025060511213742800_bib77","doi-asserted-by":"crossref","first-page":"1261","DOI":"10.1016\/j.jaip.2022.12.045","article-title":"Is your kid actin out? A series of six patients with inherited actin-related protein 2\/3 complex subunit 1B deficiency and review of the literature","volume":"11","author":"Vasquez-Echeverri","year":"2023","journal-title":"J Allergy Clin Immunol Pract"},{"issue":"22","key":"2025060511213742800_bib78","doi-asserted-by":"crossref","first-page":"2362","DOI":"10.1182\/blood-2018-07-863431","article-title":"T-cell defects in patients with ARPC1B germline mutations account for combined immunodeficiency","volume":"132","author":"Brigida","year":"2018","journal-title":"Blood"},{"issue":"23","key":"2025060511213742800_bib79","doi-asserted-by":"crossref","first-page":"e149376","DOI":"10.1172\/jci.insight.149376","article-title":"ARPC1B binds WASP to control actin polymerization and curtail tonic signaling in B cells","volume":"6","author":"Leung","year":"2021","journal-title":"JCI Insight"},{"issue":"12","key":"2025060511213742800_bib80","doi-asserted-by":"crossref","first-page":"5600","DOI":"10.1172\/JCI129388","article-title":"Loss of ARPC1B impairs cytotoxic T lymphocyte maintenance and cytolytic activity","volume":"129","author":"Randzavola","year":"2019","journal-title":"J Clin Invest"},{"key":"2025060511213742800_bib81","doi-asserted-by":"crossref","first-page":"14209","DOI":"10.1038\/ncomms14209","article-title":"A human immunodeficiency syndrome caused by mutations in CARMIL2","volume":"8","author":"Schober","year":"2017","journal-title":"Nat Commun"},{"issue":"8","key":"2025060511213742800_bib82","doi-asserted-by":"crossref","first-page":"858","DOI":"10.1038\/ni.2634","article-title":"The lymphoid lineage-specific actin-uncapping protein Rltpr is essential for costimulation via CD28 and the development of regulatory T cells","volume":"14","author":"Liang","year":"2013","journal-title":"Nat Immunol"},{"issue":"5","key":"2025060511213742800_bib83","doi-asserted-by":"crossref","first-page":"1384","DOI":"10.1016\/j.jaci.2016.04.023","article-title":"Dedicator of cytokinesis 8 regulates signal transducer and activator of transcription 3 activation and promotes T(H)17 cell differentiation","volume":"138","author":"Keles","year":"2016","journal-title":"J Allergy Clin Immunol"},{"issue":"11","key":"2025060511213742800_bib84","doi-asserted-by":"crossref","first-page":"2305","DOI":"10.1084\/jem.20110345","article-title":"DOCK8 deficiency impairs CD8 T cell survival and function in humans and mice","volume":"208","author":"Randall","year":"2011","journal-title":"J Exp Med"},{"issue":"13","key":"2025060511213742800_bib85","doi-asserted-by":"crossref","first-page":"2549","DOI":"10.1084\/jem.20141307","article-title":"DOCK8 regulates lymphocyte shape integrity for skin antiviral immunity","volume":"211","author":"Zhang","year":"2014","journal-title":"J Exp Med"},{"issue":"6","key":"2025060511213742800_bib86","doi-asserted-by":"crossref","first-page":"1365","DOI":"10.1016\/j.jaci.2014.07.042","article-title":"Dedicator of cytokinesis 8-deficient patients have a breakdown in peripheral B-cell tolerance and defective regulatory T cells","volume":"134","author":"Janssen","year":"2014","journal-title":"J Allergy Clin Immunol"},{"issue":"6","key":"2025060511213742800_bib87","doi-asserted-by":"crossref","first-page":"1753","DOI":"10.1016\/j.jaci.2014.03.032","article-title":"Plasmacytoid dendritic cell depletion in DOCK8 deficiency: rescue of severe herpetic infections with IFN-alpha 2b therapy","volume":"133","author":"Keles","year":"2014","journal-title":"J Allergy Clin Immunol"},{"key":"2025060511213742800_bib88","doi-asserted-by":"crossref","first-page":"4603","DOI":"10.1038\/ncomms5603","article-title":"DOCK8 regulates protective immunity by controlling the function and survival of RORgammat+ ILCs","volume":"5","author":"Singh","year":"2014","journal-title":"Nat Commun"},{"issue":"12","key":"2025060511213742800_bib89","doi-asserted-by":"crossref","first-page":"2052","DOI":"10.1182\/blood-2013-02-482331","article-title":"DOCK8 is critical for the survival and function of NKT cells","volume":"122","author":"Crawford","year":"2013","journal-title":"Blood"},{"issue":"5","key":"2025060511213742800_bib90","doi-asserted-by":"crossref","first-page":"1589","DOI":"10.1016\/j.jaci.2018.04.023","article-title":"Mutations affecting the actin regulator WD repeat-containing protein 1 lead to aberrant lymphoid immunity","volume":"142","author":"Pfajfer","year":"2018","journal-title":"J Allergy Clin Immunol"},{"issue":"17","key":"2025060511213742800_bib91","doi-asserted-by":"crossref","first-page":"2135","DOI":"10.1182\/blood-2016-03-706028","article-title":"Cytoskeletal abnormalities and neutrophil dysfunction in WDR1 deficiency","volume":"128","author":"Kuhns","year":"2016","journal-title":"Blood"},{"issue":"1","key":"2025060511213742800_bib92","doi-asserted-by":"crossref","first-page":"59","DOI":"10.1084\/jem.20161228","article-title":"Autoinflammatory periodic fever, immunodeficiency, and thrombocytopenia (PFIT) caused by mutation in actin-regulatory gene WDR1","volume":"214","author":"Standing","year":"2017","journal-title":"J Exp Med"},{"issue":"3","key":"2025060511213742800_bib93","doi-asserted-by":"crossref","first-page":"1047","DOI":"10.1172\/JCI120572","article-title":"Loss of ARHGEF1 causes a human primary antibody deficiency","volume":"129","author":"Bouafia","year":"2019","journal-title":"J Clin Invest"},{"issue":"9","key":"2025060511213742800_bib94","doi-asserted-by":"crossref","first-page":"3239","DOI":"10.1172\/JCI62949","article-title":"Human RHOH deficiency causes T cell defects and susceptibility to EV-HPV infections","volume":"122","author":"Crequer","year":"2012","journal-title":"J Clin Invest"},{"issue":"6","key":"2025060511213742800_bib95","doi-asserted-by":"crossref","first-page":"131","DOI":"10.1007\/s10875-024-01735-4","article-title":"A novel homozygous RHOH variant associated with T cell dysfunction and recurrent opportunistic infections","volume":"44","author":"Zhou","year":"2024","journal-title":"J Clin Immunol"},{"issue":"15","key":"2025060511213742800_bib96","doi-asserted-by":"crossref","first-page":"2033","DOI":"10.1182\/blood.2020008738","article-title":"RhoG deficiency abrogates cytotoxicity of human lymphocytes and causes hemophagocytic lymphohistiocytosis","volume":"137","author":"Kalinichenko","year":"2021","journal-title":"Blood"},{"issue":"4","key":"2025060511213742800_bib97","doi-asserted-by":"crossref","first-page":"997","DOI":"10.1016\/j.jaci.2023.05.022","article-title":"Inherited human ezrin deficiency impairs adaptive immunity","volume":"152","author":"Garcia-Solis","year":"2023","journal-title":"J Allergy Clin Immunol"},{"issue":"2","key":"2025060511213742800_bib98","doi-asserted-by":"crossref","first-page":"270","DOI":"10.1002\/humu.22737","article-title":"Inhibition of RAS activation due to a homozygous ezrin variant in patients with profound intellectual disability","volume":"36","author":"Riecken","year":"2015","journal-title":"Hum Mutat"},{"issue":"1","key":"2025060511213742800_bib100","doi-asserted-by":"crossref","first-page":"151283","DOI":"10.1016\/j.ejcb.2022.151283","article-title":"Deciphering actin remodelling in immune cells through the prism of actin-related inborn errors of immunity","volume":"102","author":"Dupre","year":"2023","journal-title":"Eur J Cell Biol"},{"issue":"4","key":"2025060511213742800_bib101","doi-asserted-by":"crossref","first-page":"e13951","DOI":"10.1111\/pai.13951","article-title":"Understanding immunoactinopathies: a decade of research on WAS gene defects","volume":"34","author":"Vieira","year":"2023","journal-title":"Pediatr Allergy Immunol"},{"issue":"2","key":"2025060511213742800_bib102","doi-asserted-by":"crossref","first-page":"595","DOI":"10.1016\/j.jaci.2017.10.026","article-title":"RASGRP1 mutation in autoimmune lymphoproliferative syndrome-like disease","volume":"142","author":"Mao","year":"2018","journal-title":"J Allergy Clin Immunol"},{"key":"2025060511213742800_bib103","doi-asserted-by":"crossref","first-page":"109813","DOI":"10.1016\/j.clim.2023.109813","article-title":"A novel homozygous mutation in RASGRP1 that predisposes to immune dysregulation and immunodeficiency associated with uncontrolled Epstein-Barr virus-induced B cell proliferation","volume":"257","author":"Mansour","year":"2023","journal-title":"Clin Immunol"},{"issue":"7","key":"2025060511213742800_bib104","doi-asserted-by":"crossref","first-page":"1210","DOI":"10.1038\/s41409-022-01704-8","article-title":"First allogeneic hematopoietic stem cell transplantation in RASGRP1 deficiency: long-term follow-up","volume":"57","author":"Kuskonmaz","year":"2022","journal-title":"Bone Marrow Transplant"},{"issue":"1","key":"2025060511213742800_bib105","doi-asserted-by":"crossref","first-page":"24","DOI":"10.1016\/j.clim.2008.11.002","article-title":"Severe combined immunodeficiency (SCID) and attention deficit hyperactivity disorder (ADHD) associated with a coronin-1A mutation and a chromosome 16p11.2 deletion","volume":"131","author":"Shiow","year":"2009","journal-title":"Clin Immunol"},{"issue":"7","key":"2025060511213742800_bib106","doi-asserted-by":"crossref","first-page":"871","DOI":"10.1007\/s10875-014-0074-8","article-title":"Compound heterozygous CORO1A mutations in siblings with a mucocutaneous-immunodeficiency syndrome of epidermodysplasia verruciformis-HPV, molluscum contagiosum and granulomatous tuberculoid leprosy","volume":"34","author":"Stray-Pedersen","year":"2014","journal-title":"J Clin Immunol"},{"issue":"2","key":"2025060511213742800_bib107","doi-asserted-by":"crossref","first-page":"100","DOI":"10.1007\/s10875-015-0130-z","article-title":"Coronin-1A: immune deficiency in humans and mice","volume":"35","author":"Punwani","year":"2015","journal-title":"J Clin Immunol"},{"issue":"3","key":"2025060511213742800_bib108","doi-asserted-by":"crossref","first-page":"879","DOI":"10.1016\/j.jaci.2015.08.020","article-title":"Recurrent viral infections associated with a homozygous CORO1A mutation that disrupts oligomerization and cytoskeletal association","volume":"137","author":"Yee","year":"2016","journal-title":"J Allergy Clin Immunol"},{"issue":"5","key":"2025060511213742800_bib109","doi-asserted-by":"crossref","first-page":"e29487","DOI":"10.1002\/pbc.29487","article-title":"Childhood Kaposi sarcoma related to hypomorphic severe combined immunodeficiency caused by a novel CORO1A mutation","volume":"69","author":"Muleviciene","year":"2022","journal-title":"Pediatr Blood Cancer"},{"issue":"18","key":"2025060511213742800_bib110","doi-asserted-by":"crossref","first-page":"6708","DOI":"10.1073\/pnas.1314975111","article-title":"Lytic immune synapse function requires filamentous actin deconstruction by coronin 1A","volume":"111","author":"Mace","year":"2014","journal-title":"Proc Natl Acad Sci U S A"},{"issue":"2","key":"2025060511213742800_bib111","doi-asserted-by":"crossref","first-page":"52","DOI":"10.14785\/lymphosign-2019-0004","article-title":"Successful hematopoietic stem cell transplantation in a patient with a novel mutation in coronin 1A","volume":"6","author":"Ovadia","year":"2019","journal-title":"LymphoSign Journal"},{"issue":"5","key":"2025060511213742800_bib112","doi-asserted-by":"crossref","first-page":"1202","DOI":"10.3390\/microorganisms11051202","article-title":"Atypical cutaneous viral infections reveal an inborn error of immunity in 8 patients","volume":"11","author":"El Kettani","year":"2023","journal-title":"Microorganisms"},{"key":"2025060511213742800_bib113","doi-asserted-by":"crossref","first-page":"109896","DOI":"10.1016\/j.clim.2024.109896","article-title":"Clinical heterogeneity in families with multiple cases of inborn errors of immunity","volume":"259","author":"Delavari","year":"2024","journal-title":"Clin Immunol"},{"issue":"1","key":"2025060511213742800_bib114","doi-asserted-by":"crossref","first-page":"109","DOI":"10.1007\/s10875-020-00891-7","article-title":"STK4 deficiency impairs innate immunity and interferon production through negative regulation of TBK1-IRF3 signaling","volume":"41","author":"Jorgensen","year":"2021","journal-title":"J Clin Immunol"},{"issue":"8","key":"2025060511213742800_bib115","doi-asserted-by":"crossref","first-page":"823","DOI":"10.1007\/s10875-019-00682-9","article-title":"STK4 deficiency in a patient with immune complex glomerulonephritis, salt-losing tubulopathy, and Castleman's-like disease","volume":"39","author":"Al-Saud","year":"2019","journal-title":"J Clin Immunol"},{"issue":"6","key":"2025060511213742800_bib116","doi-asserted-by":"crossref","first-page":"2302","DOI":"10.1016\/j.jaci.2019.02.010","article-title":"B cell-intrinsic requirement for STK4 in humoral immunity in mice and human subjects","volume":"143","author":"Moran","year":"2019","journal-title":"J Allergy Clin Immunol"},{"key":"2025060511213742800_bib117","doi-asserted-by":"crossref","first-page":"2400","DOI":"10.3389\/fimmu.2018.02400","article-title":"EBV negative lymphoma and autoimmune lymphoproliferative syndrome like phenotype extend the clinical spectrum of primary immunodeficiency caused by STK4 deficiency","volume":"9","author":"Schipp","year":"2018","journal-title":"Front Immunol"},{"issue":"8","key":"2025060511213742800_bib118","doi-asserted-by":"crossref","first-page":"e44010","DOI":"10.1371\/journal.pone.0044010","article-title":"Inherited MST1 deficiency underlies susceptibility to EV-HPV infections","volume":"7","author":"Crequer","year":"2012","journal-title":"PLoS One"},{"issue":"2","key":"2025060511213742800_bib119","doi-asserted-by":"crossref","first-page":"393","DOI":"10.1007\/s00428-021-03147-w","article-title":"STK4 deficiency and EBV-associated lymphoproliferative disorders, emphasis on histomorphology, and review of literature","volume":"480","author":"Saglam","year":"2022","journal-title":"Virchows Arch"},{"issue":"4","key":"2025060511213742800_bib120","doi-asserted-by":"crossref","first-page":"665","DOI":"10.1007\/s10875-020-00783-w","article-title":"A case of STK4 deficiency with complications evoking mycobacterial infection","volume":"40","author":"Radwan","year":"2020","journal-title":"J Clin Immunol"},{"issue":"1","key":"2025060511213742800_bib121","doi-asserted-by":"crossref","first-page":"11","DOI":"10.1007\/s10875-018-0586-8","article-title":"A novel STK4 mutation presenting with juvenile idiopathic arthritis and epidermodysplasia verruciformis","volume":"39","author":"Sharafian","year":"2019","journal-title":"J Clin Immunol"},{"issue":"2","key":"2025060511213742800_bib122","doi-asserted-by":"crossref","first-page":"e14439","DOI":"10.1111\/petr.14439","article-title":"Hematopoietic stem cell transplantation in serine\/threonine kinase 4 (STK4) deficiency: report of two cases and literature review","volume":"27","author":"Uygun","year":"2023","journal-title":"Pediatr Transplant"},{"issue":"4","key":"2025060511213742800_bib123","first-page":"333","article-title":"Identical twins with a mutation in the STK4 gene showing clinical manifestations of the mutation at different ages: a case report","volume":"17","author":"Abolnezhadian","year":"2020","journal-title":"Iran J Immunol"},{"issue":"1","key":"2025060511213742800_bib124","doi-asserted-by":"crossref","first-page":"96","DOI":"10.1111\/pde.15400","article-title":"STK4 deficiency and epidermodysplasia verruciformis-like lesions: a case report","volume":"41","author":"Gutierrez-Marin","year":"2024","journal-title":"Pediatr Dermatol"},{"issue":"8","key":"2025060511213742800_bib125","doi-asserted-by":"crossref","first-page":"1839","DOI":"10.1007\/s10875-021-01115-2","article-title":"A novel STK4 mutation impairs T cell immunity through dysregulation of cytokine-induced adhesion and chemotaxis genes","volume":"41","author":"Guennoun","year":"2021","journal-title":"J Clin Immunol"},{"issue":"48","key":"2025060511213742800_bib126","doi-asserted-by":"crossref","first-page":"e8852","DOI":"10.1097\/MD.0000000000008852","article-title":"EBV lymphoproliferative-associated disease and primary cardiac T-cell lymphoma in a STK4 deficient patient: a case report","volume":"96","author":"Sherkat","year":"2017","journal-title":"Medicine (Baltim)"},{"issue":"9","key":"2025060511213742800_bib127","doi-asserted-by":"crossref","first-page":"e18601","DOI":"10.1097\/MD.0000000000018601","article-title":"A case report of sinusoidal diffuse large B-cell lymphoma in a STK4 deficient patient","volume":"99","author":"Ashrafi","year":"2020","journal-title":"Medicine (Baltim)"},{"issue":"8","key":"2025060511213742800_bib128","doi-asserted-by":"crossref","first-page":"172","DOI":"10.1007\/s10875-024-01780-z","article-title":"Epidermodysplasia verruciformis and Vdelta2 gammadelta T-cell expansion in STK4 deficiency","volume":"44","author":"Ying","year":"2024","journal-title":"J Clin Immunol"},{"key":"2025060511213742800_bib129","doi-asserted-by":"crossref","first-page":"1329610","DOI":"10.3389\/fimmu.2024.1329610","article-title":"A unique STK4 mutation truncating only the C-terminal SARAH domain results in a mild clinical phenotype despite severe T cell lymphopenia: case report","volume":"15","author":"Al-Saud","year":"2024","journal-title":"Front Immunol"},{"issue":"6","key":"2025060511213742800_bib130","doi-asserted-by":"crossref","first-page":"1193","DOI":"10.1007\/s10875-023-01466-y","article-title":"Multiple immune defects in two patients with novel DOCK2 mutations result in recurrent multiple infection including live attenuated virus vaccine","volume":"43","author":"Li","year":"2023","journal-title":"J Clin Immunol"},{"issue":"3","key":"2025060511213742800_bib131","doi-asserted-by":"crossref","first-page":"1240","DOI":"10.1016\/j.jaci.2018.11.003","article-title":"Immunologic reconstitution following hematopoietic stem cell transplantation despite lymph node paucity in NF-kappaB-inducing kinase deficiency","volume":"143","author":"Ben Farhat","year":"2019","journal-title":"J Allergy Clin Immunol"},{"key":"2025060511213742800_bib132","doi-asserted-by":"crossref","first-page":"420","DOI":"10.3389\/fimmu.2018.00420","article-title":"Exome sequencing diagnoses X-linked moesin-associated immunodeficiency in a primary immunodeficiency case","volume":"9","author":"Bradshaw","year":"2018","journal-title":"Front Immunol"},{"issue":"8","key":"2025060511213742800_bib133","doi-asserted-by":"crossref","first-page":"1960","DOI":"10.1007\/s10875-021-01125-0","article-title":"Argentinian X-MAID siblings with one of them manifesting a rare ophthalmological complication","volume":"41","author":"Urdinez","year":"2021","journal-title":"J Clin Immunol"},{"issue":"7","key":"2025060511213742800_bib134","doi-asserted-by":"crossref","first-page":"155","DOI":"10.1007\/s10875-024-01755-0","article-title":"Novel mutation in the moesin (MSN) gene leads to immunodeficiency with Epstein-Barr virus (EBV) infection and dermatomyositis-like symptoms","volume":"44","author":"Sun","year":"2024","journal-title":"J Clin Immunol"},{"issue":"4","key":"2025060511213742800_bib135","first-page":"300","article-title":"Primary immunodeficiency disease caused by MSN gene mutation in one child and literature review","volume":"12","author":"Hui","year":"2017","journal-title":"Chinese J Evid Base Pediatric"},{"key":"2025060511213742800_bib136","doi-asserted-by":"crossref","first-page":"170","DOI":"10.3389\/fped.2019.00170","article-title":"Hematopoietic stem cell transplant for the treatment of X-MAID","volume":"7","author":"Henrickson","year":"2019","journal-title":"Front Pediatr"},{"key":"2025060511213742800_bib137","doi-asserted-by":"crossref","first-page":"109858","DOI":"10.1016\/j.clim.2023.109858","article-title":"Two cases of pediatric primary immunodeficiency caused by a familial moesin(MSN)gene mutation","volume":"258","author":"Li","year":"2024","journal-title":"Clin Immunol"},{"key":"2025060511213742800_bib138","doi-asserted-by":"crossref","first-page":"873635","DOI":"10.3389\/fgene.2022.873635","article-title":"A novel variant of X-linked moesin gene in a boy with inflammatory bowel disease like disease-a case report","volume":"13","author":"Fang","year":"2022","journal-title":"Front Genet"},{"key":"2025060511213742800_bib139","doi-asserted-by":"crossref","first-page":"919411","DOI":"10.3389\/fimmu.2022.919411","article-title":"Hemizygous nonsense variant in the moesin gene (MSN) leads to a new autoimmune phenotype of immunodeficiency 50","volume":"13","author":"Kovacs","year":"2022","journal-title":"Front Immunol"},{"issue":"4","key":"2025060511213742800_bib140","doi-asserted-by":"crossref","first-page":"1122","DOI":"10.1016\/j.jaci.2019.06.017","article-title":"Severe autoinflammation in 4 patients with C-terminal variants in cell division control protein 42 homolog (CDC42) successfully treated with IL-1beta inhibition","volume":"144","author":"Gernez","year":"2019","journal-title":"J Allergy Clin Immunol"},{"issue":"1","key":"2025060511213742800_bib141","doi-asserted-by":"crossref","first-page":"69","DOI":"10.1007\/s10875-022-01344-z","article-title":"A CDC42 stop-loss mutation in a patient with relapsing polychondritis and autoinflammation","volume":"43","author":"van Wijck","year":"2023","journal-title":"J Clin Immunol"},{"issue":"4","key":"2025060511213742800_bib142","doi-asserted-by":"crossref","first-page":"571","DOI":"10.1007\/s10875-020-00786-7","article-title":"A new patient with NOCARH syndrome due to CDC42 defect","volume":"40","author":"He","year":"2020","journal-title":"J Clin Immunol"},{"issue":"2","key":"2025060511213742800_bib143","doi-asserted-by":"crossref","first-page":"294","DOI":"10.3390\/genes12020294","article-title":"Pancytopenia, recurrent infection, poor wound healing, heterotopia of the brain probably associated with a candidate novel de novo CDC42 gene defect: expanding the molecular and phenotypic spectrum","volume":"12","author":"Asiri","year":"2021","journal-title":"Genes (Basel)"},{"issue":"2","key":"2025060511213742800_bib144","doi-asserted-by":"crossref","first-page":"309","DOI":"10.1016\/j.ajhg.2017.12.015","article-title":"Functional dysregulation of CDC42 causes diverse developmental phenotypes","volume":"102","author":"Martinelli","year":"2018","journal-title":"Am J Hum Genet"},{"issue":"1","key":"2025060511213742800_bib145","doi-asserted-by":"crossref","first-page":"53","DOI":"10.1007\/s12026-020-09168-y","article-title":"Progressive decline of T and B cell numbers and function in a patient with CDC42 deficiency","volume":"69","author":"Kashani","year":"2021","journal-title":"Immunol Res"},{"issue":"4","key":"2025060511213742800_bib146","doi-asserted-by":"crossref","first-page":"567","DOI":"10.1007\/s10875-020-00742-5","article-title":"Systemic inflammation and myelofibrosis in a patient with Takenouchi-Kosaki syndrome due to CDC42 Tyr64Cys mutation","volume":"40","author":"Bucciol","year":"2020","journal-title":"J Clin Immunol"},{"issue":"12","key":"2025060511213742800_bib147","doi-asserted-by":"crossref","first-page":"104358","DOI":"10.1016\/j.ejmg.2021.104358","article-title":"Intermittent macrothrombocytopenia in a novel patient with Takenouchi-Kosaki syndrome and review of literature","volume":"64","author":"Santoro","year":"2021","journal-title":"Eur J Med Genet"},{"issue":"3","key":"2025060511213742800_bib148","doi-asserted-by":"crossref","first-page":"850","DOI":"10.1002\/ajmg.a.62009","article-title":"Aplasia cutis congenita in a CDC42-related developmental phenotype","volume":"185","author":"Schnabel","year":"2021","journal-title":"Am J Med Genet A"},{"issue":"11","key":"2025060511213742800_bib149","doi-asserted-by":"crossref","first-page":"2822","DOI":"10.1002\/ajmg.a.37275","article-title":"Macrothrombocytopenia and developmental delay with a de novo CDC42 mutation: yet another locus for thrombocytopenia and developmental delay","volume":"167A","author":"Takenouchi","year":"2015","journal-title":"Am J Med Genet A"},{"issue":"4","key":"2025060511213742800_bib150","doi-asserted-by":"crossref","first-page":"852","DOI":"10.1002\/ajmg.a.37526","article-title":"Further evidence of a mutation in CDC42 as a cause of a recognizable syndromic form of thrombocytopenia","volume":"170A","author":"Takenouchi","year":"2016","journal-title":"Am J Med Genet A"},{"issue":"4","key":"2025060511213742800_bib151","doi-asserted-by":"crossref","first-page":"2144","DOI":"10.1002\/ccr3.3966","article-title":"Ending a diagnostic odyssey-the first case of Takenouchi-Kosaki syndrome in an African patient","volume":"9","author":"Flynn","year":"2021","journal-title":"Clin Case Rep"},{"issue":"3","key":"2025060511213742800_bib152","doi-asserted-by":"crossref","first-page":"387","DOI":"10.1038\/s10038-017-0396-5","article-title":"A hot-spot mutation in CDC42 (p.Tyr64Cys) and novel phenotypes in the third patient with Takenouchi-Kosaki syndrome","volume":"63","author":"Motokawa","year":"2018","journal-title":"J Hum Genet"},{"key":"2025060511213742800_bib153","doi-asserted-by":"crossref","first-page":"318","DOI":"10.3389\/fimmu.2020.00318","article-title":"A novel CDC42 mutation in an 11-year old child manifesting as syndromic immunodeficiency, autoinflammation, hemophagocytic lymphohistiocytosis, and malignancy: a case report","volume":"11","author":"Szczawinska-Poplonyk","year":"2020","journal-title":"Front Immunol"},{"key":"2025060511213742800_bib154","doi-asserted-by":"crossref","first-page":"1108852","DOI":"10.3389\/fgene.2023.1108852","article-title":"The clinical phenotype with gastrostomy and abdominal wall infection in a pediatric patient with Takenouchi-Kosaki syndrome due to a heterozygous c.191A &gt; G (p.Tyr64Cys) variant in CDC42: a case report","volume":"14","author":"Szczawinska-Poplonyk","year":"2023","journal-title":"Front Genet"},{"issue":"8","key":"2025060511213742800_bib155","doi-asserted-by":"crossref","first-page":"1583","DOI":"10.1007\/s10875-022-01327-0","article-title":"HEM1 actin immunodysregulatory disorder: genotypes, phenotypes, and future directions","volume":"42","author":"Cook","year":"2022","journal-title":"J Clin Immunol"},{"issue":"12","key":"2025060511213742800_bib156","doi-asserted-by":"crossref","first-page":"e20192275","DOI":"10.1084\/jem.20192275","article-title":"NCKAP1L defects lead to a novel syndrome combining immunodeficiency, lymphoproliferation, and hyperinflammation","volume":"217","author":"Castro","year":"2020","journal-title":"J Exp Med"},{"key":"2025060511213742800_bib157","doi-asserted-by":"crossref","first-page":"1402139","DOI":"10.3389\/fimmu.2024.1402139","article-title":"Hem1 inborn errors of immunity: waving goodbye to coordinated immunity in mice and humans","volume":"15","author":"Christodoulou","year":"2024","journal-title":"Front Immunol"},{"issue":"6","key":"2025060511213742800_bib158","doi-asserted-by":"crossref","first-page":"563","DOI":"10.1056\/NEJMe2305431","article-title":"DOCK11 and immune disease","volume":"389","author":"Tangye","year":"2023","journal-title":"N Engl J Med"},{"issue":"1","key":"2025060511213742800_bib159","doi-asserted-by":"crossref","first-page":"4250","DOI":"10.1038\/s41467-018-06713-0","article-title":"Variants in exons 5 and 6 of ACTB cause syndromic thrombocytopenia [published correction appears in Nat Commun. 2018;9(1):4930]","volume":"9","author":"Latham","year":"2018","journal-title":"Nat Commun"},{"issue":"15","key":"2025060511213742800_bib160","doi-asserted-by":"crossref","first-page":"8693","DOI":"10.1073\/pnas.96.15.8693","article-title":"A heterozygous mutation of beta-actin associated with neutrophil dysfunction and recurrent infection","volume":"96","author":"Nunoi","year":"1999","journal-title":"Proc Natl Acad Sci U S A"},{"key":"2025060511213742800_bib161","volume-title":"GeneReviews","author":"Verloes","year":"1993"},{"issue":"6","key":"2025060511213742800_bib162","first-page":"818","article-title":"The first Korean case of Baraitser-Winter cerebro-fronto-facial syndrome with a novel mutation in ACTB diagnosed via targeted gene panel sequencing and literature review","volume":"50","author":"Choi","year":"2020","journal-title":"Ann Clin Lab Sci"},{"issue":"2","key":"2025060511213742800_bib163","doi-asserted-by":"crossref","first-page":"435","DOI":"10.1002\/ajmg.a.37422","article-title":"Novel loss-of-function variants in DIAPH1 associated with syndromic microcephaly, blindness, and early onset seizures","volume":"170A","author":"Al-Maawali","year":"2016","journal-title":"Am J Med Genet A"},{"issue":"11","key":"2025060511213742800_bib164","doi-asserted-by":"crossref","first-page":"1310","DOI":"10.15252\/emmm.201606609","article-title":"Constitutive activation of DIA1 (DIAPH1) via C-terminal truncation causes human sensorineural hearing loss","volume":"8","author":"Ueyama","year":"2016","journal-title":"EMBO Mol Med"},{"issue":"10","key":"2025060511213742800_bib165","doi-asserted-by":"crossref","first-page":"2826","DOI":"10.1002\/ajmg.a.38411","article-title":"Progressive macrothrombocytopenia and hearing loss in a large family with DIAPH1 related disease","volume":"173","author":"Ganaha","year":"2017","journal-title":"Am J Med Genet A"},{"issue":"6","key":"2025060511213742800_bib166","doi-asserted-by":"crossref","first-page":"699","DOI":"10.1001\/archotol.124.6.699","article-title":"Further characterization of the DFNA1 audiovestibular phenotype","volume":"124","author":"Lalwani","year":"1998","journal-title":"Arch Otolaryngol Head Neck Surg"},{"issue":"5341","key":"2025060511213742800_bib167","doi-asserted-by":"crossref","first-page":"1315","DOI":"10.1126\/science.278.5341.1315","article-title":"Nonsyndromic deafness DFNA1 associated with mutation of a human homolog of the Drosophila gene diaphanous","volume":"278","author":"Lynch","year":"1997","journal-title":"Science"},{"issue":"6","key":"2025060511213742800_bib168","doi-asserted-by":"crossref","first-page":"892","DOI":"10.1111\/cge.12915","article-title":"Extension of the clinical and molecular phenotype of DIAPH1-associated autosomal dominant hearing loss (DFNA1)","volume":"91","author":"Neuhaus","year":"2017","journal-title":"Clin Genet"},{"issue":"5","key":"2025060511213742800_bib169","doi-asserted-by":"crossref","first-page":"289","DOI":"10.1266\/ggs.16-00041","article-title":"A novel missense variant in the DIAPH1 gene in a Korean family with autosomal dominant nonsyndromic hearing loss","volume":"91","author":"Kang","year":"2017","journal-title":"Genes Genet Syst"},{"issue":"3","key":"2025060511213742800_bib170","doi-asserted-by":"crossref","first-page":"176","DOI":"10.34172\/aim.2023.27","article-title":"An extended Iranian family with autosomal dominant non-syndromic hearing loss associated with a nonsense mutation in the DIAPH1 gene","volume":"26","author":"Mohseni","year":"2023","journal-title":"Arch Iran Med"},{"issue":"1","key":"2025060511213742800_bib171","doi-asserted-by":"crossref","first-page":"91","DOI":"10.1159\/000506727","article-title":"DIAPH1 mutation as a novel cause of autosomal dominant macrothrombocytopenia and hearing loss","volume":"144","author":"Karki","year":"2021","journal-title":"Acta Haematol"},{"issue":"12","key":"2025060511213742800_bib172","doi-asserted-by":"crossref","first-page":"818","DOI":"10.1136\/jmedgenet-2019-106282","article-title":"Differential disruption of autoinhibition and defect in assembly of cytoskeleton during cell division decide the fate of human DIAPH1-related cytoskeletopathy","volume":"56","author":"Kim","year":"2019","journal-title":"J Med Genet"},{"key":"2025060511213742800_bib173","doi-asserted-by":"crossref","first-page":"109947","DOI":"10.1016\/j.ijporl.2020.109947","article-title":"A novel variant in diaphanous homolog 1 (DIAPH1) as the cause of auditory neuropathy in a Chinese family","volume":"133","author":"Wu","year":"2020","journal-title":"Int J Pediatr Otorhinolaryngol"},{"issue":"5 pt 1","key":"2025060511213742800_bib174","doi-asserted-by":"crossref","first-page":"e622","DOI":"10.1542\/peds.111.5.e622","article-title":"Autoimmunity in Wiskott-Aldrich syndrome: risk factors, clinical features, and outcome in a single-center cohort of 55 patients","volume":"111","author":"Dupuis-Girod","year":"2003","journal-title":"Pediatrics"},{"issue":"2","key":"2025060511213742800_bib175","doi-asserted-by":"crossref","first-page":"456","DOI":"10.1182\/blood-2003-05-1480","article-title":"Clinical course of patients with WASP gene mutations","volume":"103","author":"Imai","year":"2004","journal-title":"Blood"},{"issue":"suppl 1","key":"2025060511213742800_bib176","doi-asserted-by":"crossref","first-page":"84","DOI":"10.1016\/j.bbmt.2008.10.007","article-title":"Wiskott-Aldrich syndrome: diagnosis, clinical and laboratory manifestations, and treatment","volume":"15","author":"Ochs","year":"2009","journal-title":"Biol Blood Marrow Transplant"},{"issue":"6 Pt 1","key":"2025060511213742800_bib177","doi-asserted-by":"crossref","first-page":"876","DOI":"10.1016\/S0022-3476(05)82002-5","article-title":"A multiinstitutional survey of the Wiskott-Aldrich syndrome","volume":"125","author":"Sullivan","year":"1994","journal-title":"J Pediatr"},{"issue":"4","key":"2025060511213742800_bib178","doi-asserted-by":"crossref","first-page":"647","DOI":"10.1111\/bjh.15831","article-title":"How I manage patients with Wiskott Aldrich syndrome","volume":"185","author":"Rivers","year":"2019","journal-title":"Br J Haematol"},{"issue":"1","key":"2025060511213742800_bib179","doi-asserted-by":"crossref","first-page":"13","DOI":"10.1007\/s10875-017-0453-z","article-title":"Clinical manifestations and pathophysiological mechanisms of the Wiskott-Aldrich syndrome","volume":"38","author":"Candotti","year":"2018","journal-title":"J Clin Immunol"},{"issue":"1","key":"2025060511213742800_bib180","doi-asserted-by":"crossref","first-page":"29","DOI":"10.1084\/jem.20110896","article-title":"A novel primary human immunodeficiency due to deficiency in the WASP-interacting protein WIP","volume":"209","author":"Lanzi","year":"2012","journal-title":"J Exp Med"},{"issue":"1","key":"2025060511213742800_bib181","doi-asserted-by":"crossref","first-page":"82","DOI":"10.1007\/s10875-022-01367-6","article-title":"Wiskott Aldrich syndrome-2 caused by novel Wiskott Aldrich syndrome protein-interacting protein (WIP) deficiency is associated with juvenile myelomonocytic leukaemia - a case report","volume":"43","author":"Senthil","year":"2023","journal-title":"J Clin Immunol"},{"key":"2025060511213742800_bib182","doi-asserted-by":"crossref","first-page":"2554","DOI":"10.3389\/fimmu.2018.02554","article-title":"The phenotype and treatment of WIP deficiency: literature synopsis and review of a patient with pre-transplant serial donor lymphocyte infusions to eliminate CMV","volume":"9","author":"Schwinger","year":"2018","journal-title":"Front Immunol"},{"issue":"3","key":"2025060511213742800_bib183","doi-asserted-by":"crossref","first-page":"1039","DOI":"10.1016\/j.jaci.2016.08.036","article-title":"Hematopoietic stem cell transplantation corrects WIP deficiency","volume":"139","author":"Al-Mousa","year":"2017","journal-title":"J Allergy Clin Immunol"},{"issue":"6","key":"2025060511213742800_bib184","doi-asserted-by":"crossref","first-page":"2296","DOI":"10.1016\/j.jaci.2019.02.003","article-title":"A combined immunodeficiency with severe infections, inflammation, and allergy caused by ARPC1B deficiency","volume":"143","author":"Volpi","year":"2019","journal-title":"J Allergy Clin Immunol"},{"issue":"3","key":"2025060511213742800_bib185","doi-asserted-by":"crossref","first-page":"e095","DOI":"10.1097\/PG9.0000000000000095","article-title":"ARPC1B mutation manifesting as recurrent hematemesis with metaplasia","volume":"2","author":"Antala","year":"2021","journal-title":"JPGN Rep"},{"key":"2025060511213742800_bib186","doi-asserted-by":"crossref","first-page":"919237","DOI":"10.3389\/fimmu.2022.919237","article-title":"Radiosensitivity in patients affected by ARPC1B deficiency: a new disease trait?","volume":"13","author":"Chiriaco","year":"2022","journal-title":"Front Immunol"},{"issue":"1","key":"2025060511213742800_bib187","first-page":"122","article-title":"Description of a novel pathogenic variant in the ARPC1B and a severe allergy in two infants","volume":"23","author":"Zaveleta Martinez","year":"2024","journal-title":"Iran J Allergy Asthma Immunol"},{"issue":"6","key":"2025060511213742800_bib188","doi-asserted-by":"crossref","first-page":"604","DOI":"10.1002\/mgg3.237","article-title":"A potential founder variant in CARMIL2\/RLTPR in three Norwegian families with warts, molluscum contagiosum, and T-cell dysfunction","volume":"4","author":"Sorte","year":"2016","journal-title":"Mol Genet Genomic Med"},{"issue":"11","key":"2025060511213742800_bib189","doi-asserted-by":"crossref","first-page":"2413","DOI":"10.1084\/jem.20160576","article-title":"Dual T cell- and B cell-intrinsic deficiency in humans with biallelic RLTPR mutations","volume":"213","author":"Wang","year":"2016","journal-title":"J Exp Med"},{"issue":"4","key":"2025060511213742800_bib190","doi-asserted-by":"crossref","first-page":"430","DOI":"10.1007\/s10875-019-00631-6","article-title":"A unique presentation of infantile-onset colitis and eosinophilic disease without recurrent infections resulting from a novel homozygous CARMIL2 variant","volume":"39","author":"Kurolap","year":"2019","journal-title":"J Clin Immunol"},{"issue":"11","key":"2025060511213742800_bib191","doi-asserted-by":"crossref","first-page":"1788","DOI":"10.1093\/ibd\/izz103","article-title":"CARMIL2 deficiency presenting as very early onset inflammatory bowel disease","volume":"25","author":"Magg","year":"2019","journal-title":"Inflamm Bowel Dis"},{"issue":"3","key":"2025060511213742800_bib192","doi-asserted-by":"crossref","first-page":"274","DOI":"10.1007\/s10875-019-00628-1","article-title":"A novel CARMIL2 mutation resulting in combined immunodeficiency manifesting with dermatitis, fungal, and viral skin infections as well as selective antibody deficiency","volume":"39","author":"Atschekzei","year":"2019","journal-title":"J Clin Immunol"},{"issue":"1","key":"2025060511213742800_bib193","doi-asserted-by":"crossref","first-page":"5634","DOI":"10.2340\/00015555-3370","article-title":"Complex muco-cutaneous manifestations of CARMIL2-associated combined immunodeficiency: a novel presentation of dysfunctional epithelial barriers","volume":"100","author":"Marangi","year":"2020","journal-title":"Acta Derm Venereol"},{"key":"2025060511213742800_bib194","doi-asserted-by":"crossref","first-page":"203","DOI":"10.3389\/fimmu.2018.00203","article-title":"Novel CARMIL2 mutations in patients with variable clinical dermatitis, infections, and combined immunodeficiency","volume":"9","author":"Alazami","year":"2018","journal-title":"Front Immunol"},{"key":"2025060511213742800_bib195","doi-asserted-by":"crossref","first-page":"884","DOI":"10.3389\/fimmu.2020.00884","article-title":"A novel pathogenic variant in CARMIL2 (RLTPR) causing CARMIL2 deficiency and EBV-associated smooth muscle tumors","volume":"11","author":"Yonkof","year":"2020","journal-title":"Front Immunol"},{"issue":"3","key":"2025060511213742800_bib196","doi-asserted-by":"crossref","first-page":"1004","DOI":"10.1111\/all.15010","article-title":"Evolution and long-term outcomes of combined immunodeficiency due to CARMIL2 deficiency","volume":"77","author":"Kolukisa","year":"2022","journal-title":"Allergy"},{"issue":"1","key":"2025060511213742800_bib197","doi-asserted-by":"crossref","first-page":"5945","DOI":"10.1038\/s41598-021-85399-9","article-title":"Novel CARMIL2 loss-of-function variants are associated with pediatric inflammatory bowel disease","volume":"11","author":"Bosa","year":"2021","journal-title":"Sci Rep"},{"issue":"6","key":"2025060511213742800_bib198","doi-asserted-by":"crossref","first-page":"1023","DOI":"10.1080\/15513815.2021.2000533","article-title":"CARMIL2 immunodeficiency with Epstein Barr virus associated smooth muscle tumor (EBV-SMT). Report of a case with comprehensive review of literature","volume":"41","author":"Vij","year":"2022","journal-title":"Fetal Pediatr Pathol"},{"key":"2025060511213742800_bib199","doi-asserted-by":"crossref","first-page":"1042302","DOI":"10.3389\/fped.2022.1042302","article-title":"Case report: primary immunodeficiency due to a novel mutation in CARMIL2 and its response to combined immunomodulatory therapy","volume":"10","author":"Zhu","year":"2022","journal-title":"Front Pediatr"},{"key":"2025060511213742800_bib200","doi-asserted-by":"crossref","first-page":"108228","DOI":"10.1016\/j.clim.2019.06.004","article-title":"Profound immunodeficiency with severe skin disease explained by concomitant novel CARMIL2 and PLEC1 loss-of-function mutations","volume":"208","author":"Maccari","year":"2019","journal-title":"Clin Immunol"},{"key":"2025060511213742800_bib201","first-page":"102443","article-title":"Bronchopleural fistula in a 5- years old child with novel CARMIL 2 mutation: a rare disease and a rare case","volume":"66","author":"Chaudhry","year":"2021","journal-title":"Ann Med Surg (Lond)"},{"issue":"4","key":"2025060511213742800_bib202","doi-asserted-by":"crossref","first-page":"695","DOI":"10.1111\/pde.14173","article-title":"CARMIL2-related immunodeficiency manifesting with photosensitivity","volume":"37","author":"Shayegan","year":"2020","journal-title":"Pediatr Dermatol"},{"key":"2025060511213742800_bib203","doi-asserted-by":"crossref","first-page":"151413","DOI":"10.1016\/j.anndiagpath.2019.151413","article-title":"Peripheral eosinophilia in primary immunodeficiencies of actin dysregulation: a case series of Wiskott-Aldrich syndrome, CARMIL2 and DOCK8 deficiency and review of the literature","volume":"43","author":"Kim","year":"2019","journal-title":"Ann Diagn Pathol"},{"issue":"3","key":"2025060511213742800_bib204","doi-asserted-by":"crossref","first-page":"215","DOI":"10.1111\/cei.13432","article-title":"Exogenous interleukin-2 can rescue in-vitro T cell activation and proliferation in patients with a novel capping protein regulator and myosin 1 linker 2 mutation","volume":"200","author":"Shamriz","year":"2020","journal-title":"Clin Exp Immunol"},{"issue":"5","key":"2025060511213742800_bib205","doi-asserted-by":"crossref","first-page":"596","DOI":"10.2174\/0118715303263327230922043929","article-title":"Novel CARMIL2 (RLTPR) mutation presenting with hyper-IgE and eosinophilia: a case report","volume":"24","author":"Zamani","year":"2024","journal-title":"Endocr Metab Immune Disord Drug Targets"},{"issue":"2","key":"2025060511213742800_bib206","doi-asserted-by":"crossref","first-page":"189","DOI":"10.1007\/s10875-014-0126-0","article-title":"DOCK8 deficiency: clinical and immunological phenotype and treatment options - a review of 136 patients","volume":"35","author":"Aydin","year":"2015","journal-title":"J Clin Immunol"},{"issue":"3","key":"2025060511213742800_bib207","doi-asserted-by":"crossref","first-page":"848","DOI":"10.1016\/j.jaip.2018.10.035","article-title":"Hematopoietic stem cell transplantation as treatment for patients with DOCK8 deficiency","volume":"7","author":"Aydin","year":"2019","journal-title":"J Allergy Clin Immunol Pract"},{"issue":"4","key":"2025060511213742800_bib208","doi-asserted-by":"crossref","first-page":"519","DOI":"10.1007\/s12185-023-03613-y","article-title":"Successful treatment of DOCK8 deficiency by allogeneic hematopoietic cell transplantation from alternative donors","volume":"118","author":"Kono","year":"2023","journal-title":"Int J Hematol"},{"key":"2025060511213742800_bib209","doi-asserted-by":"crossref","first-page":"793010","DOI":"10.3389\/fgeed.2022.793010","article-title":"CRISPR\/Cas-Based Gene Editing Strategies for DOCK8 Immunodeficiency Syndrome","volume":"4","author":"Ravendran","year":"2022","journal-title":"Front Genome Ed"},{"issue":"2","key":"2025060511213742800_bib210","doi-asserted-by":"crossref","first-page":"128","DOI":"10.1016\/j.clim.2011.06.003","article-title":"Deficient T cell receptor excision circles (TRECs) in autosomal recessive hyper IgE syndrome caused by DOCK8 mutation: implications for pathogenesis and potential detection by newborn screening","volume":"141","author":"Dasouki","year":"2011","journal-title":"Clin Immunol"},{"issue":"4","key":"2025060511213742800_bib211","doi-asserted-by":"crossref","first-page":"e113","DOI":"10.1097\/MPG.0000000000002826","article-title":"WD repeat domain 1 (WDR1) deficiency presenting as a cause of infantile inflammatory bowel disease","volume":"71","author":"Millstead","year":"2020","journal-title":"J Pediatr Gastroenterol Nutr"},{"issue":"1","key":"2025060511213742800_bib212","doi-asserted-by":"crossref","first-page":"254","DOI":"10.1038\/s41467-017-00348-3","article-title":"The mTORC1-4E-BP-eIF4E axis controls de novo Bcl6 protein synthesis in T cells and systemic autoimmunity","volume":"8","author":"Yi","year":"2017","journal-title":"Nat Commun"},{"issue":"3","key":"2025060511213742800_bib213","doi-asserted-by":"crossref","first-page":"e202004092","DOI":"10.1083\/jcb.202004092","article-title":"The distinct localization of CDC42 isoforms is responsible for their specific functions during migration","volume":"223","author":"Ravichandran","year":"2024","journal-title":"J Cell Biol"},{"issue":"1","key":"2025060511213742800_bib214","doi-asserted-by":"crossref","first-page":"3","DOI":"10.1111\/cge.12864","article-title":"Baraitser-Winter cerebrofrontofacial syndrome","volume":"92","author":"Yates","year":"2017","journal-title":"Clin Genet"},{"issue":"4","key":"2025060511213742800_bib215","doi-asserted-by":"crossref","first-page":"753","DOI":"10.1002\/humu.23970","article-title":"Further delineation of putative ACTB loss-of-function variants: a 4-patient series","volume":"41","author":"Baumann","year":"2020","journal-title":"Hum Mutat"},{"key":"2025060511213742800_bib216","first-page":"27","volume-title":"GeneReviews","author":"Roberts","year":":  15, 2001;  :  17, 2022"},{"key":"2025060511213742800_bib217","doi-asserted-by":"crossref","first-page":"4","DOI":"10.1186\/1750-1172-2-4","article-title":"Noonan syndrome","volume":"2","author":"van der Burgt","year":"2007","journal-title":"Orphanet J Rare Dis"},{"issue":"2","key":"2025060511213742800_bib218","doi-asserted-by":"crossref","first-page":"167","DOI":"10.1002\/pbc.23358","article-title":"Bleeding disorders in Noonan syndrome","volume":"58","author":"Briggs","year":"2012","journal-title":"Pediatr Blood Cancer"},{"key":"2025060511213742800_bib219","doi-asserted-by":"crossref","first-page":"69","DOI":"10.1016\/j.biocel.2015.07.008","article-title":"Cytoskeletal regulation of platelet formation: coordination of F-actin and microtubules","volume":"66","author":"Poulter","year":"2015","journal-title":"Int J Biochem Cell Biol"},{"issue":"2","key":"2025060511213742800_bib220","doi-asserted-by":"crossref","first-page":"112","DOI":"10.1007\/s12016-013-8377-8","article-title":"Skin manifestations of primary immune deficiency","volume":"46","author":"Lehman","year":"2014","journal-title":"Clin Rev Allergy Immunol"},{"issue":"9","key":"2025060511213742800_bib221","doi-asserted-by":"crossref","first-page":"1242","DOI":"10.1002\/humu.22350","article-title":"Functional analysis of a de novo ACTB mutation in a patient with atypical Baraitser-Winter syndrome","volume":"34","author":"Johnston","year":"2013","journal-title":"Hum Mutat"},{"issue":"3","key":"2025060511213742800_bib222","doi-asserted-by":"crossref","first-page":"105672","DOI":"10.1016\/j.jbc.2024.105672","article-title":"What is allosteric regulation? Exploring the exceptions that prove the rule","volume":"300","author":"McCullagh","year":"2024","journal-title":"J Biol Chem"},{"issue":"2 suppl 2","key":"2025060511213742800_bib223","doi-asserted-by":"crossref","first-page":"S182","DOI":"10.1016\/j.jaci.2009.07.053","article-title":"Primary immunodeficiencies","volume":"125","author":"Notarangelo","year":"2010","journal-title":"J Allergy Clin Immunol"},{"issue":"1","key":"2025060511213742800_bib224","doi-asserted-by":"crossref","first-page":"15913","DOI":"10.1038\/s41598-022-18175-y","article-title":"Actin cable formation and epidermis-dermis positional relationship during complete skin regeneration","volume":"12","author":"Takaya","year":"2022","journal-title":"Sci Rep"},{"issue":"40","key":"2025060511213742800_bib225","doi-asserted-by":"crossref","first-page":"E3820","DOI":"10.1073\/pnas.1308419110","article-title":"Actin-related protein2\/3 complex regulates tight junctions and terminal differentiation to promote epidermal barrier formation","volume":"110","author":"Zhou","year":"2013","journal-title":"Proc Natl Acad Sci U S A"},{"key":"2025060511213742800_bib226","doi-asserted-by":"crossref","first-page":"435","DOI":"10.2147\/JBM.S232650","article-title":"Hematopoietic stem cell therapy for Wiskott-Aldrich syndrome: improved outcome and quality of life","volume":"12","author":"Mallhi","year":"2021","journal-title":"J Blood Med"},{"issue":"6","key":"2025060511213742800_bib227","doi-asserted-by":"crossref","first-page":"609","DOI":"10.1080\/1744666X.2022.2074400","article-title":"Diagnosis and clinical management of Wiskott-Aldrich syndrome: current and emerging techniques","volume":"18","author":"Cavannaugh","year":"2022","journal-title":"Expert Rev Clin Immunol"}],"container-title":["Blood"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/ashpublications.org\/blood\/article-pdf\/145\/23\/2709\/2378070\/blood_bld-2024-026763-main.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/ashpublications.org\/blood\/article-pdf\/145\/23\/2709\/2378070\/blood_bld-2024-026763-main.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,6,5]],"date-time":"2025-06-05T15:22:10Z","timestamp":1749136930000},"score":1,"resource":{"primary":{"URL":"https:\/\/ashpublications.org\/blood\/article\/145\/23\/2709\/535650\/Immunoactinopathies-revisited-understanding"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,6,5]]},"references-count":227,"journal-issue":{"issue":"23","published-print":{"date-parts":[[2025,6,5]]}},"URL":"https:\/\/doi.org\/10.1182\/blood.2024026763","relation":{},"ISSN":["0006-4971","1528-0020"],"issn-type":[{"value":"0006-4971","type":"print"},{"value":"1528-0020","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2025,6,5]]},"published":{"date-parts":[[2025,6,5]]}}}