{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,2]],"date-time":"2026-06-02T06:00:40Z","timestamp":1780380040117,"version":"3.54.1"},"reference-count":123,"publisher":"Elsevier BV","issue":"6","license":[{"start":{"date-parts":[[2025,12,1]],"date-time":"2025-12-01T00:00:00Z","timestamp":1764547200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2025,12,1]],"date-time":"2025-12-01T00:00:00Z","timestamp":1764547200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","jacionline.org","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Journal of Allergy and Clinical Immunology"],"published-print":{"date-parts":[[2025,12]]},"DOI":"10.1016\/j.jaci.2025.06.030","type":"journal-article","created":{"date-parts":[[2025,7,7]],"date-time":"2025-07-07T19:38:40Z","timestamp":1751917120000},"page":"1456-1464","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":1,"title":["Allergic manifestations of actinopathies: A review"],"prefix":"10.1016","volume":"156","author":[{"given":"Candice N.","family":"Gard","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"George E.","family":"Freigeh","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0687-2550","authenticated-orcid":false,"given":"Erin M.","family":"Janssen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.jaci.2025.06.030_bib1","doi-asserted-by":"crossref","first-page":"1907","DOI":"10.3389\/fimmu.2020.01907","article-title":"Research progress in atopic march","volume":"11","author":"Yang","year":"2020","journal-title":"Front Immunol"},{"key":"10.1016\/j.jaci.2025.06.030_bib2","doi-asserted-by":"crossref","DOI":"10.3389\/fimmu.2022.860821","article-title":"Inborn errors of the immune system associated with atopy","volume":"13","author":"Nelson","year":"2022","journal-title":"Front Immunol"},{"key":"10.1016\/j.jaci.2025.06.030_bib3","doi-asserted-by":"crossref","first-page":"200","DOI":"10.18176\/jiaci.0768","article-title":"Atopic manifestations are underestimated clinical features in various primary immunodeficiency disease phenotypes","volume":"33","author":"de Wit","year":"2023","journal-title":"J Investig Allergol Clin Immunol"},{"key":"10.1016\/j.jaci.2025.06.030_bib4","doi-asserted-by":"crossref","first-page":"1130","DOI":"10.1016\/j.jaci.2021.08.008","article-title":"Inborn errors of immunity manifesting as atopic disorders","volume":"148","author":"Vaseghi-Shanjani","year":"2021","journal-title":"J Allergy Clin Immunol"},{"key":"10.1016\/j.jaci.2025.06.030_bib5","doi-asserted-by":"crossref","DOI":"10.3389\/fcell.2021.665519","article-title":"Actin dynamics at the T cell synapse as revealed by immune-related actinopathies","volume":"9","author":"Dupr\u00e9","year":"2021","journal-title":"Front Cell Dev Biol"},{"key":"10.1016\/j.jaci.2025.06.030_bib6","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"},{"key":"10.1016\/j.jaci.2025.06.030_bib7","doi-asserted-by":"crossref","first-page":"237","DOI":"10.1038\/nrm2867","article-title":"A nucleator arms race: cellular control of actin assembly","volume":"11","author":"Campellone","year":"2010","journal-title":"Nat Rev Mol Cell Biol"},{"key":"10.1016\/j.jaci.2025.06.030_bib8","doi-asserted-by":"crossref","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"},{"key":"10.1016\/j.jaci.2025.06.030_bib9","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"},{"key":"10.1016\/j.jaci.2025.06.030_bib10","doi-asserted-by":"crossref","first-page":"75","DOI":"10.1016\/j.clim.2017.06.003","article-title":"DOCK8 deficiency: insights into pathophysiology, clinical features and management","volume":"181","author":"Biggs","year":"2017","journal-title":"Clin Immunol"},{"key":"10.1016\/j.jaci.2025.06.030_bib11","doi-asserted-by":"crossref","first-page":"2046","DOI":"10.1056\/NEJMoa0905506","article-title":"Combined immunodeficiency associated with DOCK8 mutations","volume":"361","author":"Zhang","year":"2009","journal-title":"N Engl J Med"},{"key":"10.1016\/j.jaci.2025.06.030_bib12","doi-asserted-by":"crossref","first-page":"1289","DOI":"10.1016\/j.jaci.2009.10.038","article-title":"Large deletions and point mutations involving the dedicator of cytokinesis 8 (DOCK8) in the autosomal-recessive form of hyper-IgE syndrome","volume":"124","author":"Engelhardt","year":"2009","journal-title":"J Allergy Clin Immunol"},{"key":"10.1016\/j.jaci.2025.06.030_bib13","article-title":"Actin remodeling defects leading to autoinflammation and immune dysregulation","volume":"11","author":"Papa","year":"2020","journal-title":"Front Immunol"},{"key":"10.1016\/j.jaci.2025.06.030_bib14","doi-asserted-by":"crossref","first-page":"79","DOI":"10.1001\/archdermatol.2011.262","article-title":"Cutaneous manifestations of DOCK8 deficiency syndrome","volume":"148","author":"Chu","year":"2012","journal-title":"Arch Dermatol"},{"key":"10.1016\/j.jaci.2025.06.030_bib15","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\u2014a review of 136 patients","volume":"35","author":"Aydin","year":"2015","journal-title":"J Clin Immunol"},{"key":"10.1016\/j.jaci.2025.06.030_bib16","doi-asserted-by":"crossref","first-page":"266","DOI":"10.1016\/j.clim.2012.03.002","article-title":"Clinical, immunologic and genetic profiles of DOCK8-deficient patients in Kuwait","volume":"143","author":"Al-Herz","year":"2012","journal-title":"Clin Immunol"},{"key":"10.1016\/j.jaci.2025.06.030_bib17","doi-asserted-by":"crossref","first-page":"515","DOI":"10.1111\/pai.13236","article-title":"Clinical, immunological features and follow up of 20 patients with dedicator of cytokinesis 8 (DOCK8) deficiency","volume":"31","author":"Haskologlu","year":"2020","journal-title":"Pediatr Allergy Immunol"},{"key":"10.1016\/j.jaci.2025.06.030_bib18","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":"10.1016\/j.jaci.2025.06.030_bib19","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"},{"key":"10.1016\/j.jaci.2025.06.030_bib20","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"},{"key":"10.1016\/j.jaci.2025.06.030_bib21","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"},{"key":"10.1016\/j.jaci.2025.06.030_bib22","first-page":"241","article-title":"Primary immunodeficiencies associated with EBV Disease","volume":"390","author":"Cohen","year":"2015","journal-title":"Curr Top Microbiol Immunol"},{"key":"10.1016\/j.jaci.2025.06.030_bib23","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"},{"key":"10.1016\/j.jaci.2025.06.030_bib24","doi-asserted-by":"crossref","first-page":"1054","DOI":"10.1016\/j.jaci.2008.10.023","article-title":"Primary immune deficiencies with aberrant IgE production","volume":"122","author":"Ozcan","year":"2008","journal-title":"J Allergy Clin Immunol"},{"key":"10.1016\/j.jaci.2025.06.030_bib25","doi-asserted-by":"crossref","first-page":"1186","DOI":"10.1016\/j.jaci.2015.04.049","article-title":"Practice parameter for the diagnosis and management of primary immunodeficiency","volume":"136","author":"Bonilla","year":"2015","journal-title":"J Allergy Clin Immunol"},{"key":"10.1016\/j.jaci.2025.06.030_bib26","series-title":"GeneReviews","article-title":"WAS-related disorders","author":"Chandra","year":"1993"},{"key":"10.1016\/j.jaci.2025.06.030_bib27","doi-asserted-by":"crossref","first-page":"4030","DOI":"10.1172\/JCI85129","article-title":"FOXP3+ Tregs require WASP to restrain Th2-mediated food allergy","volume":"126","author":"Lexmond","year":"2016","journal-title":"J Clin Invest"},{"key":"10.1016\/j.jaci.2025.06.030_bib28","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"},{"key":"10.1016\/j.jaci.2025.06.030_bib29","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"},{"key":"10.1016\/j.jaci.2025.06.030_bib30","doi-asserted-by":"crossref","first-page":"66","DOI":"10.1007\/s10875-020-00758-x","article-title":"Human inborn errors of immunity: 2019 update of the IUIS phenotypical classification","volume":"40","author":"Bousfiha","year":"2020","journal-title":"J Clin Immunol"},{"key":"10.1016\/j.jaci.2025.06.030_bib31","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"},{"key":"10.1016\/j.jaci.2025.06.030_bib32","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"},{"key":"10.1016\/j.jaci.2025.06.030_bib33","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":"Donk\u00f3","year":"2024","journal-title":"Blood"},{"key":"10.1016\/j.jaci.2025.06.030_bib34","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"},{"key":"10.1016\/j.jaci.2025.06.030_bib35","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"},{"key":"10.1016\/j.jaci.2025.06.030_bib36","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"},{"key":"10.1016\/j.jaci.2025.06.030_bib37","doi-asserted-by":"crossref","first-page":"432","DOI":"10.1111\/cbdd.12556","article-title":"Cdc42: Role in cancer management","volume":"86","author":"Qadir","year":"2015","journal-title":"Chem Biol Drug Des"},{"key":"10.1016\/j.jaci.2025.06.030_bib38","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":"10.1016\/j.jaci.2025.06.030_bib39","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-1\u03b2 inhibition","volume":"144","author":"Gernez","year":"2019","journal-title":"J Allergy Clin Immunol"},{"key":"10.1016\/j.jaci.2025.06.030_bib40","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"},{"key":"10.1016\/j.jaci.2025.06.030_bib41","doi-asserted-by":"crossref","first-page":"4418","DOI":"10.1038\/s41598-019-40988-7","article-title":"Pathogenetic basis of Takenouchi-Kosaki syndrome: electron microscopy study using platelets in patients and functional studies in a Caenorhabditis elegans model","volume":"9","author":"Uehara","year":"2019","journal-title":"Sci Rep"},{"key":"10.1016\/j.jaci.2025.06.030_bib42","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":"10.1016\/j.jaci.2025.06.030_bib43","doi-asserted-by":"crossref","first-page":"223","DOI":"10.1016\/j.jaci.2022.01.024","article-title":"Mutations at the C-terminus of CDC42 cause distinct hematopoietic and autoinflammatory disorders","volume":"150","author":"Coppola","year":"2022","journal-title":"J Allergy Clin Immunol"},{"key":"10.1016\/j.jaci.2025.06.030_bib44","doi-asserted-by":"crossref","first-page":"481","DOI":"10.1083\/jcb.148.3.481","article-title":"Cdc42 and Rac stimulate exocytosis of secretory granules by activating the IP(3)\/calcium pathway in RBL-2H3 mast cells","volume":"148","author":"Hong-Geller","year":"2000","journal-title":"J Cell Biol"},{"key":"10.1016\/j.jaci.2025.06.030_bib45","doi-asserted-by":"crossref","first-page":"1154","DOI":"10.1073\/pnas.98.3.1154","article-title":"Activated Cdc42\/Rac reconstitutes Fcepsilon RI-mediated Ca2+ mobilization and degranulation in mutant RBL mast cells","volume":"98","author":"Hong-Geller","year":"2001","journal-title":"Proc Natl Acad Sci U S A"},{"key":"10.1016\/j.jaci.2025.06.030_bib46","doi-asserted-by":"crossref","first-page":"933","DOI":"10.1016\/j.jaci.2016.07.016","article-title":"Dedicator of cytokinesis 8-deficient CD4(+) T cells are biased to a T(H)2 effector fate at the expense of T(H)1 and T(H)17 cells","volume":"139","author":"Tangye","year":"2017","journal-title":"J Allergy Clin Immunol"},{"key":"10.1016\/j.jaci.2025.06.030_bib47","doi-asserted-by":"crossref","DOI":"10.1172\/jci.insight.94298","article-title":"DOCK8 enforces immunological tolerance by promoting IL-2 signaling and immune synapse formation in Tregs","volume":"2","author":"Janssen","year":"2017","journal-title":"JCI Insight"},{"key":"10.1016\/j.jaci.2025.06.030_bib48","doi-asserted-by":"crossref","first-page":"3837","DOI":"10.1172\/JCI85774","article-title":"A DOCK8-WIP-WASp complex links T cell receptors to the actin cytoskeleton","volume":"126","author":"Janssen","year":"2016","journal-title":"J Clin Invest"},{"key":"10.1016\/j.jaci.2025.06.030_bib49","doi-asserted-by":"crossref","first-page":"143","DOI":"10.1016\/j.jaci.2023.12.020","article-title":"Regulatory T-cell dysfunction and cutaneous exposure to Staphylococcus aureus underlie eczema in DOCK8 deficiency","volume":"154","author":"Wilkie","year":"2024","journal-title":"J Allergy Clin Immunol"},{"key":"10.1016\/j.jaci.2025.06.030_bib50","doi-asserted-by":"crossref","first-page":"1503","DOI":"10.1016\/j.jid.2020.09.027","article-title":"DOCK8 expression in regulatory T cells maintains their stability and limits contact hypersensitivity","volume":"141","author":"Wilkie","year":"2021","journal-title":"J Invest Dermatol"},{"key":"10.1016\/j.jaci.2025.06.030_bib51","doi-asserted-by":"crossref","first-page":"1794","DOI":"10.1016\/j.immuni.2025.06.004","article-title":"Intestinal dysbiosis and impaired IL-17 cytokine production synergize with Treg cell dysfunction to increase susceptibility to oral anaphylaxis in DOCK8 deficiency","volume":"58","author":"Janssen","year":"2025","journal-title":"Immunity"},{"key":"10.1016\/j.jaci.2025.06.030_bib52","doi-asserted-by":"crossref","DOI":"10.1172\/jci.insight.94275","article-title":"DOCK8 regulates fitness and function of regulatory T cells through modulation of IL-2 signaling","volume":"2","author":"Singh","year":"2017","journal-title":"JCI Insight"},{"key":"10.1016\/j.jaci.2025.06.030_bib53","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"},{"key":"10.1016\/j.jaci.2025.06.030_bib54","doi-asserted-by":"crossref","first-page":"402","DOI":"10.1016\/j.jaci.2014.12.1945","article-title":"The extended clinical phenotype of 64 patients with dedicator of cytokinesis 8 deficiency","volume":"136","author":"Engelhardt","year":"2015","journal-title":"J Allergy Clin Immunol"},{"key":"10.1016\/j.jaci.2025.06.030_bib55","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-\u03b1 2b therapy","volume":"133","author":"Keles","year":"2014","journal-title":"J Allergy Clin Immunol"},{"key":"10.1016\/j.jaci.2025.06.030_bib56","doi-asserted-by":"crossref","first-page":"104","DOI":"10.1016\/j.clim.2014.04.005","article-title":"Successful interferon-alpha 2b therapy for unremitting warts in a patient with DOCK8 deficiency","volume":"153","author":"Al-Zahrani","year":"2014","journal-title":"Clin Immunol"},{"key":"10.1016\/j.jaci.2025.06.030_bib57","doi-asserted-by":"crossref","first-page":"220","DOI":"10.1016\/j.clim.2013.12.006","article-title":"Flow cytometry biomarkers distinguish DOCK8 deficiency from severe atopic dermatitis","volume":"150","author":"Janssen","year":"2014","journal-title":"Clin Immunol"},{"key":"10.1016\/j.jaci.2025.06.030_bib58","doi-asserted-by":"crossref","DOI":"10.1038\/ncomms13946","article-title":"The transcription factor EPAS1 links DOCK8 deficiency to atopic skin inflammation via IL-31 induction","volume":"8","author":"Yamamura","year":"2017","journal-title":"Nat Commun"},{"key":"10.1016\/j.jaci.2025.06.030_bib59","doi-asserted-by":"crossref","first-page":"1386","DOI":"10.1111\/1346-8138.15955","article-title":"Treatment options for DOCK8 deficiency-related severe dermatitis","volume":"48","author":"Ollech","year":"2021","journal-title":"J Dermatol"},{"key":"10.1016\/j.jaci.2025.06.030_bib60","doi-asserted-by":"crossref","first-page":"3670","DOI":"10.1111\/all.15429","article-title":"Identification of a functional DOCK8 gene polymorphism associated with atopic dermatitis","volume":"77","author":"Kunimura","year":"2022","journal-title":"Allergy"},{"key":"10.1016\/j.jaci.2025.06.030_bib61","doi-asserted-by":"crossref","DOI":"10.1016\/j.xjidi.2023.100203","article-title":"Relevance of coding variation in FLG And DOCK8 in Finnish pediatric patients with early-onset moderate-to-severe atopic dermatitis","volume":"3","author":"Per\u00e4l\u00e4","year":"2023","journal-title":"JID Innov"},{"key":"10.1016\/j.jaci.2025.06.030_bib62","doi-asserted-by":"crossref","first-page":"197","DOI":"10.5021\/ad.2020.32.3.197","article-title":"Association of DOCK8, IL17RA, and KLK12 polymorphisms with atopic dermatitis in Koreans","volume":"32","author":"Heo","year":"2020","journal-title":"Ann Dermatol"},{"key":"10.1016\/j.jaci.2025.06.030_bib63","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"},{"key":"10.1016\/j.jaci.2025.06.030_bib64","doi-asserted-by":"crossref","first-page":"1882","DOI":"10.1007\/s10875-023-01554-z","article-title":"Atypical localization of eczema discriminates DOCK8 or STAT3 deficiencies from atopic dermatitis","volume":"43","author":"Kasap","year":"2023","journal-title":"J Clin Immunol"},{"key":"10.1016\/j.jaci.2025.06.030_bib65","doi-asserted-by":"crossref","first-page":"1388","DOI":"10.1016\/j.jaci.2013.08.045","article-title":"Diminished allergic disease in patients with STAT3 mutations reveals a role for STAT3 signaling in mast cell degranulation","volume":"132","author":"Siegel","year":"2013","journal-title":"J Allergy Clin Immunol"},{"key":"10.1016\/j.jaci.2025.06.030_bib66","doi-asserted-by":"crossref","first-page":"943","DOI":"10.1111\/all.12416","article-title":"Atopic dermatitis, STAT3- and DOCK8-hyper-IgE syndromes differ in IgE-based sensitization pattern","volume":"69","author":"Boos","year":"2014","journal-title":"Allergy"},{"key":"10.1016\/j.jaci.2025.06.030_bib67","doi-asserted-by":"crossref","first-page":"735","DOI":"10.1086\/302547","article-title":"Genetic linkage of hyper-IgE syndrome to chromosome 4","volume":"65","author":"Grimbacher","year":"1999","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.jaci.2025.06.030_bib68","doi-asserted-by":"crossref","first-page":"351","DOI":"10.1055\/s-0030-1265135","article-title":"Successful long-term correction of autosomal recessive hyper-IgE syndrome due to DOCK8 deficiency by hematopoietic stem cell transplantation","volume":"222","author":"Bittner","year":"2010","journal-title":"Klin Padiatr"},{"key":"10.1016\/j.jaci.2025.06.030_bib69","doi-asserted-by":"crossref","first-page":"1304","DOI":"10.1016\/j.jaci.2010.07.034","article-title":"Successful engraftment of donor marrow after allogeneic hematopoietic cell transplantation in autosomal-recessive hyper-IgE syndrome caused by dedicator of cytokinesis 8 deficiency","volume":"126","author":"McDonald","year":"2010","journal-title":"J Allergy Clin Immunol"},{"key":"10.1016\/j.jaci.2025.06.030_bib70","doi-asserted-by":"crossref","first-page":"852","DOI":"10.1016\/j.jaci.2016.02.022","article-title":"Hematopoietic stem cell transplantation outcomes for 11 patients with dedicator of cytokinesis 8 deficiency","volume":"138","author":"Al-Herz","year":"2016","journal-title":"J Allergy Clin Immunol"},{"key":"10.1016\/j.jaci.2025.06.030_bib71","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"},{"key":"10.1016\/j.jaci.2025.06.030_bib72","doi-asserted-by":"crossref","first-page":"741","DOI":"10.1084\/jem.20111692","article-title":"The Mst1 and Mst2 kinases control activation of rho family GTPases and thymic egress of mature thymocytes","volume":"209","author":"Mou","year":"2012","journal-title":"J Exp Med"},{"key":"10.1016\/j.jaci.2025.06.030_bib73","doi-asserted-by":"crossref","first-page":"358","DOI":"10.1016\/j.immuni.2009.02.003","article-title":"An essential role of the Forkhead-box transcription factor Foxo1 in control of T cell homeostasis and tolerance","volume":"30","author":"Ouyang","year":"2009","journal-title":"Immunity"},{"key":"10.1016\/j.jaci.2025.06.030_bib74","doi-asserted-by":"crossref","DOI":"10.1371\/journal.ppat.1002533","article-title":"FOXO3 regulates CD8 T cell memory by T cell-intrinsic mechanisms","volume":"8","author":"Sullivan","year":"2012","journal-title":"PLoS Pathog"},{"key":"10.1016\/j.jaci.2025.06.030_bib75","doi-asserted-by":"crossref","first-page":"1525","DOI":"10.4049\/jimmunol.1301060","article-title":"Mst1\/Mst2 regulate development and function of regulatory T cells through modulation of Foxo1\/Foxo3 stability in autoimmune disease","volume":"192","author":"Du","year":"2014","journal-title":"J Immunol"},{"key":"10.1016\/j.jaci.2025.06.030_bib76","doi-asserted-by":"crossref","first-page":"899","DOI":"10.1016\/j.immuni.2018.10.010","article-title":"Hippo kinases Mst1 and Mst2 sense and amplify IL-2R-STAT5 signaling in regulatory T cells to establish stable regulatory activity","volume":"49","author":"Shi","year":"2018","journal-title":"Immunity"},{"key":"10.1016\/j.jaci.2025.06.030_bib77","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"},{"key":"10.1016\/j.jaci.2025.06.030_bib78","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"},{"key":"10.1016\/j.jaci.2025.06.030_bib79","doi-asserted-by":"crossref","first-page":"1657","DOI":"10.1002\/pbc.26048","article-title":"Successful curative therapy with rituximab and allogeneic haematopoietic stem cell transplantation for MALT lymphoma associated with STK4-mutated CD4+ lymphocytopenia","volume":"63","author":"Lum","year":"2016","journal-title":"Pediatr Blood Cancer"},{"key":"10.1016\/j.jaci.2025.06.030_bib80","doi-asserted-by":"crossref","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"},{"key":"10.1016\/j.jaci.2025.06.030_bib81","doi-asserted-by":"crossref","first-page":"555","DOI":"10.1016\/S0960-9822(99)80243-7","article-title":"The Wiskott-Aldrich syndrome protein directs actin-based motility by stimulating actin nucleation with the Arp2\/3 complex","volume":"9","author":"Yarar","year":"1999","journal-title":"Curr Biol"},{"key":"10.1016\/j.jaci.2025.06.030_bib82","doi-asserted-by":"crossref","DOI":"10.15252\/embj.2019102783","article-title":"Cytoskeletal tension actively sustains the migratory T-cell synaptic contact","volume":"39","author":"Kumari","year":"2020","journal-title":"EMBO J"},{"key":"10.1016\/j.jaci.2025.06.030_bib83","doi-asserted-by":"crossref","first-page":"2262","DOI":"10.3389\/fimmu.2019.02262","article-title":"WASp is essential for effector-to-memory conversion and for maintenance of CD8(+)T cell memory","volume":"10","author":"Liu","year":"2019","journal-title":"Front Immunol"},{"key":"10.1016\/j.jaci.2025.06.030_bib84","doi-asserted-by":"crossref","DOI":"10.1016\/j.jaut.2024.103336","article-title":"Wiskott-Aldrich syndrome protein maintains regulatory T cell tolerance by modulating their surface IL-2 receptor levels","volume":"149","author":"Zhao","year":"2024","journal-title":"J Autoimmun"},{"key":"10.1016\/j.jaci.2025.06.030_bib85","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"},{"key":"10.1016\/j.jaci.2025.06.030_bib86","doi-asserted-by":"crossref","first-page":"26","DOI":"10.1111\/nyas.12049","article-title":"Wiskott-Aldrich syndrome: a comprehensive review","volume":"1285","author":"Massaad","year":"2013","journal-title":"Ann N Y Acad Sci"},{"key":"10.1016\/j.jaci.2025.06.030_bib87","doi-asserted-by":"crossref","DOI":"10.1126\/scitranslmed.3000813","article-title":"Nuclear role of WASp in the pathogenesis of dysregulated TH1 immunity in human Wiskott-Aldrich syndrome","volume":"2","author":"Taylor","year":"2010","journal-title":"Sci Transl Med"},{"key":"10.1016\/j.jaci.2025.06.030_bib88","doi-asserted-by":"crossref","first-page":"7451","DOI":"10.4049\/jimmunol.177.10.7451","article-title":"Defective Th1 cytokine gene transcription in CD4+ and CD8+ T cells from Wiskott-Aldrich syndrome patients","volume":"177","author":"Trifari","year":"2006","journal-title":"J Immunol"},{"key":"10.1016\/j.jaci.2025.06.030_bib89","doi-asserted-by":"crossref","first-page":"369","DOI":"10.1084\/jem.20061334","article-title":"WASP regulates suppressor activity of human and murine CD4(+)CD25(+)FOXP3(+) natural regulatory T cells","volume":"204","author":"Marangoni","year":"2007","journal-title":"J Exp Med"},{"key":"10.1016\/j.jaci.2025.06.030_bib90","doi-asserted-by":"crossref","first-page":"312","DOI":"10.1111\/j.1651-2227.2007.00044.x","article-title":"Topical tacrolimus is effective against eczema in Wiskott-Aldrich syndrome (WAS)","volume":"96","author":"Bienemann","year":"2007","journal-title":"Acta Paediatr"},{"key":"10.1016\/j.jaci.2025.06.030_bib91","doi-asserted-by":"crossref","first-page":"143","DOI":"10.1111\/pde.15397","article-title":"Severe eczema in Wiskott-Aldrich syndrome-related disorder successfully treated with dupilumab","volume":"41","author":"Alzahrani","year":"2024","journal-title":"Pediatr Dermatol"},{"key":"10.1016\/j.jaci.2025.06.030_bib92","doi-asserted-by":"crossref","first-page":"439","DOI":"10.1182\/blood-2007-03-076679","article-title":"Long-term outcome following hematopoietic stem-cell transplantation in Wiskott-Aldrich syndrome: collaborative study of the European Society for Immunodeficiencies and European Group for Blood and Marrow Transplantation","volume":"111","author":"Ozsahin","year":"2008","journal-title":"Blood"},{"key":"10.1016\/j.jaci.2025.06.030_bib93","doi-asserted-by":"crossref","first-page":"1675","DOI":"10.1182\/blood-2010-11-319376","article-title":"Long-term outcome and lineage-specific chimerism in 194 patients with Wiskott-Aldrich syndrome treated by hematopoietic cell transplantation in the period 1980-2009: an international collaborative study","volume":"118","author":"Moratto","year":"2011","journal-title":"Blood"},{"key":"10.1016\/j.jaci.2025.06.030_bib94","doi-asserted-by":"crossref","first-page":"1281","DOI":"10.1182\/blood.2022019117","article-title":"Outcomes of hematopoietic stem cell gene therapy for Wiskott-Aldrich syndrome","volume":"142","author":"Labrosse","year":"2023","journal-title":"Blood"},{"key":"10.1016\/j.jaci.2025.06.030_bib95","doi-asserted-by":"crossref","first-page":"1550","DOI":"10.1001\/jama.2015.3253","article-title":"Outcomes following gene therapy in patients with severe Wiskott-Aldrich syndrome","volume":"313","author":"Hacein-Bey Abina","year":"2015","journal-title":"JAMA"},{"key":"10.1016\/j.jaci.2025.06.030_bib96","doi-asserted-by":"crossref","first-page":"272","DOI":"10.1016\/j.clim.2003.08.005","article-title":"An international study examining therapeutic options used in treatment of Wiskott-Aldrich syndrome","volume":"109","author":"Conley","year":"2003","journal-title":"Clin Immunol"},{"key":"10.1016\/j.jaci.2025.06.030_bib97","doi-asserted-by":"crossref","first-page":"99","DOI":"10.1007\/s12026-008-8086-1","article-title":"Recent advances in the biology of WASP and WIP","volume":"44","author":"Ramesh","year":"2009","journal-title":"Immunol Res"},{"key":"10.1016\/j.jaci.2025.06.030_bib98","doi-asserted-by":"crossref","first-page":"4036","DOI":"10.4049\/jimmunol.1700460","article-title":"Disruption of thrombocyte and T lymphocyte development by a mutation in ARPC1B","volume":"199","author":"Somech","year":"2017","journal-title":"J Immunol"},{"key":"10.1016\/j.jaci.2025.06.030_bib99","doi-asserted-by":"crossref","DOI":"10.3389\/fimmu.2021.634313","article-title":"Case report: a novel synonymous ARPC1B gene mutation causes a syndrome of combined immunodeficiency, asthma, and allergy with significant intrafamilial clinical heterogeneity","volume":"12","author":"Papadatou","year":"2021","journal-title":"Front Immunol"},{"key":"10.1016\/j.jaci.2025.06.030_bib100","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":"V\u00e1squez-Echeverri","year":"2023","journal-title":"J Allergy Clin Immunol Pract"},{"key":"10.1016\/j.jaci.2025.06.030_bib101","doi-asserted-by":"crossref","first-page":"273","DOI":"10.1016\/j.jaci.2016.09.061","article-title":"Combined immunodeficiency with severe inflammation and allergy caused by ARPC1B deficiency","volume":"140","author":"Kuijpers","year":"2017","journal-title":"J Allergy Clin Immunol"},{"key":"10.1016\/j.jaci.2025.06.030_bib102","doi-asserted-by":"crossref","first-page":"1632","DOI":"10.3389\/fimmu.2019.01632","article-title":"Flow cytometric determination of actin polymerization in peripheral blood leukocytes effectively discriminate patients with homozygous mutation in ARPC1B from asymptomatic carriers and normal Controls","volume":"10","author":"Kopitar","year":"2019","journal-title":"Front Immunol"},{"key":"10.1016\/j.jaci.2025.06.030_bib103","doi-asserted-by":"crossref","first-page":"677","DOI":"10.1038\/nrm3869","article-title":"Capping protein regulators fine-tune actin assembly dynamics","volume":"15","author":"Edwards","year":"2014","journal-title":"Nat Rev Mol Cell Biol"},{"key":"10.1016\/j.jaci.2025.06.030_bib104","doi-asserted-by":"crossref","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"},{"key":"10.1016\/j.jaci.2025.06.030_bib105","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"},{"key":"10.1016\/j.jaci.2025.06.030_bib106","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":"10.1016\/j.jaci.2025.06.030_bib107","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"},{"key":"10.1016\/j.jaci.2025.06.030_bib108","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"},{"key":"10.1016\/j.jaci.2025.06.030_bib109","doi-asserted-by":"crossref","first-page":"e1270","DOI":"10.1097\/MPH.0000000000002311","article-title":"Successful allogeneic hematopoietic stem cell transplant for CARMIL2 deficiency","volume":"43","author":"Rastogi","year":"2021","journal-title":"J Pediatr Hematol Oncol"},{"key":"10.1016\/j.jaci.2025.06.030_bib110","doi-asserted-by":"crossref","first-page":"239","DOI":"10.1083\/jcb.200705122","article-title":"Rac1 and Rac2 differentially regulate actin free barbed end formation downstream of the fMLP receptor","volume":"179","author":"Sun","year":"2007","journal-title":"J Cell Biol"},{"key":"10.1016\/j.jaci.2025.06.030_bib111","doi-asserted-by":"crossref","first-page":"183","DOI":"10.1016\/S1074-7613(00)80019-9","article-title":"Deficiency of the hematopoietic cell-specific Rho family GTPase Rac2 is characterized by abnormalities in neutrophil function and host defense","volume":"10","author":"Roberts","year":"1999","journal-title":"Immunity"},{"key":"10.1016\/j.jaci.2025.06.030_bib112","doi-asserted-by":"crossref","first-page":"687","DOI":"10.1002\/JLB.5MR0520-194RR","article-title":"RAC2 and primary human immune deficiencies","volume":"108","author":"Lougaris","year":"2020","journal-title":"J Leukoc Biol"},{"key":"10.1016\/j.jaci.2025.06.030_bib113","doi-asserted-by":"crossref","first-page":"763","DOI":"10.1189\/jlb.0513281","article-title":"Rac1 and Rac2 control distinct events during antigen-stimulated mast cell exocytosis","volume":"95","author":"Baier","year":"2014","journal-title":"J Leukoc Biol"},{"key":"10.1016\/j.jaci.2025.06.030_bib114","doi-asserted-by":"crossref","first-page":"137","DOI":"10.1159\/000322597","article-title":"Agonist activation of f-actin-mediated eosinophil shape change and mediator release is dependent on Rac2","volume":"156","author":"Lacy","year":"2011","journal-title":"Int Arch Allergy Immunol"},{"key":"10.1016\/j.jaci.2025.06.030_bib115","doi-asserted-by":"crossref","first-page":"473","DOI":"10.1007\/s10875-020-00915-2","article-title":"A novel RAC2 variant presenting as severe combined immunodeficiency","volume":"41","author":"Stern","year":"2021","journal-title":"J Clin Immunol"},{"key":"10.1016\/j.jaci.2025.06.030_bib116","doi-asserted-by":"crossref","first-page":"604","DOI":"10.1007\/s10875-022-01411-5","article-title":"Novel loss of function (G15D) mutation on RAC2 in a family with combined immunodeficiency and increased levels of immunoglobulin G, A, and E","volume":"43","author":"Duan","year":"2023","journal-title":"J Clin Immunol"},{"key":"10.1016\/j.jaci.2025.06.030_bib117","doi-asserted-by":"crossref","first-page":"1223","DOI":"10.4049\/jimmunol.166.2.1223","article-title":"Rac2 is an essential regulator of neutrophil nicotinamide adenine dinucleotide phosphate oxidase activation in response to specific signaling pathways","volume":"166","author":"Kim","year":"2001","journal-title":"J Immunol"},{"key":"10.1016\/j.jaci.2025.06.030_bib118","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"},{"key":"10.1016\/j.jaci.2025.06.030_bib119","doi-asserted-by":"crossref","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":"10.1016\/j.jaci.2025.06.030_bib120","doi-asserted-by":"crossref","first-page":"1280","DOI":"10.1007\/s10875-022-01288-4","article-title":"Combined immunodeficiency caused by a novel de novo gain-of-function RAC2 mutation","volume":"42","author":"Zhang","year":"2022","journal-title":"J Clin Immunol"},{"key":"10.1016\/j.jaci.2025.06.030_bib121","doi-asserted-by":"crossref","first-page":"404","DOI":"10.3324\/haematol.2019.230250","article-title":"A gain-of-function RAC2 mutation is associated with bone-marrow hypoplasia and an autosomal dominant form of severe combined immunodeficiency","volume":"106","author":"Lagresle-Peyrou","year":"2021","journal-title":"Haematologica"},{"key":"10.1016\/j.jaci.2025.06.030_bib122","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"},{"key":"10.1016\/j.jaci.2025.06.030_bib123","doi-asserted-by":"crossref","first-page":"274","DOI":"10.3390\/metabo9110274","article-title":"Metabolomics distinguishes DOCK8 deficiency from atopic dermatitis: towards a biomarker discovery","volume":"9","author":"Jacob","year":"2019","journal-title":"Metabolites"}],"container-title":["Journal of Allergy and Clinical Immunology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0091674925007407?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0091674925007407?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2026,5,31]],"date-time":"2026-05-31T04:37:32Z","timestamp":1780202252000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0091674925007407"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,12]]},"references-count":123,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2025,12]]}},"alternative-id":["S0091674925007407"],"URL":"https:\/\/doi.org\/10.1016\/j.jaci.2025.06.030","relation":{},"ISSN":["0091-6749"],"issn-type":[{"value":"0091-6749","type":"print"}],"subject":[],"published":{"date-parts":[[2025,12]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Allergic manifestations of actinopathies: A review","name":"articletitle","label":"Article Title"},{"value":"Journal of Allergy and Clinical Immunology","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.jaci.2025.06.030","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2025 American Academy of Allergy, Asthma & Immunology","name":"copyright","label":"Copyright"}]}}