{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,17]],"date-time":"2026-09-17T10:05:30Z","timestamp":1789639530198,"version":"4.0.0"},"reference-count":51,"publisher":"Elsevier BV","issue":"2","license":[{"start":{"date-parts":[[2025,1,1]],"date-time":"2025-01-01T00:00:00Z","timestamp":1735689600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2025,1,1]],"date-time":"2025-01-01T00:00:00Z","timestamp":1735689600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2025,1,1]],"date-time":"2025-01-01T00:00:00Z","timestamp":1735689600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-017"},{"start":{"date-parts":[[2025,1,1]],"date-time":"2025-01-01T00:00:00Z","timestamp":1735689600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-037"},{"start":{"date-parts":[[2025,1,1]],"date-time":"2025-01-01T00:00:00Z","timestamp":1735689600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-012"},{"start":{"date-parts":[[2025,1,1]],"date-time":"2025-01-01T00:00:00Z","timestamp":1735689600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-029"},{"start":{"date-parts":[[2025,1,1]],"date-time":"2025-01-01T00:00:00Z","timestamp":1735689600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-004"}],"content-domain":{"domain":["clinicalkey.fr","clinicalkey.jp","clinicalkey.es","clinicalkey.com.au","clinicalkey.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Autoimmunity Reviews"],"published-print":{"date-parts":[[2025,1]]},"DOI":"10.1016\/j.autrev.2024.103715","type":"journal-article","created":{"date-parts":[[2024,12,5]],"date-time":"2024-12-05T18:11:13Z","timestamp":1733422273000},"page":"103715","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":7,"title":["Current landscape of monogenic autoinflammatory actinopathies: A literature review"],"prefix":"10.1016","volume":"24","author":[{"given":"P.","family":"Mertz","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"V.","family":"Hentgen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G.","family":"Boursier","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.","family":"Delon","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"Georgin-Lavialle","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.autrev.2024.103715_bb0005","doi-asserted-by":"crossref","first-page":"133","DOI":"10.1016\/S0092-8674(00)80721-7","article-title":"Germline mutations in the extracellular domains of the 55 kDa TNF receptor, TNFR1, define a family of dominantly inherited autoinflammatory syndromes","volume":"97","author":"McDermott","year":"1999","journal-title":"Cell"},{"key":"10.1016\/j.autrev.2024.103715_bb0010","article-title":"Diagnostic and therapeutic algorithms for monogenic autoinflammatory diseases presenting with recurrent fevers among adults","author":"Delplanque","year":"2022","journal-title":"Rheumatology (Oxford)"},{"key":"10.1016\/j.autrev.2024.103715_bb0015","doi-asserted-by":"crossref","first-page":"379","DOI":"10.1038\/20726","article-title":"Structure of Cdc42 in complex with the GTPase-binding domain of the \u201cWiskott-Aldrich syndrome\u201d protein","volume":"399","author":"Abdul-Manan","year":"1999","journal-title":"Nature"},{"key":"10.1016\/j.autrev.2024.103715_bb0020","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.autrev.2024.103715_bb0025","doi-asserted-by":"crossref","DOI":"10.1242\/jcs.215509","article-title":"The makings of the \u201cactin code\u201d: regulation of actin\u2019s biological function at the amino acid and nucleotide level","volume":"131","author":"Vedula","year":"2018","journal-title":"J Cell Sci"},{"key":"10.1016\/j.autrev.2024.103715_bb0030","doi-asserted-by":"crossref","DOI":"10.1101\/cshperspect.a018226","article-title":"Actin and actin-binding proteins","volume":"8","author":"Pollard","year":"2016","journal-title":"Cold Spring Harb Perspect Biol"},{"key":"10.1016\/j.autrev.2024.103715_bb0035","doi-asserted-by":"crossref","first-page":"6181","DOI":"10.1073\/pnas.95.11.6181","article-title":"The interaction of Arp2\/3 complex with actin: nucleation, high affinity pointed end capping, and formation of branching networks of filaments","volume":"95","author":"Mullins","year":"1998","journal-title":"Proc Natl Acad Sci U S A"},{"key":"10.1016\/j.autrev.2024.103715_bb0040","doi-asserted-by":"crossref","first-page":"713","DOI":"10.1038\/nrm2026","article-title":"The ARP2\/3 complex: an actin nucleator comes of age","volume":"7","author":"Goley","year":"2006","journal-title":"Nat Rev Mol Cell Biol"},{"key":"10.1016\/j.autrev.2024.103715_bb0045","doi-asserted-by":"crossref","DOI":"10.1126\/sciadv.add1412","article-title":"Arf GTPase activates the WAVE regulatory complex through a distinct binding site","volume":"8","author":"Yang","year":"2022","journal-title":"Sci Adv"},{"key":"10.1016\/j.autrev.2024.103715_bb0050","doi-asserted-by":"crossref","first-page":"99","DOI":"10.1084\/jem.20030976","article-title":"Fyn and PTP-PEST-mediated regulation of Wiskott-Aldrich syndrome protein (WASp) tyrosine phosphorylation is required for coupling T cell antigen receptor engagement to WASp effector function and T cell activation","volume":"199","author":"Badour","year":"2004","journal-title":"J Exp Med"},{"key":"10.1016\/j.autrev.2024.103715_bb0055","doi-asserted-by":"crossref","first-page":"612","DOI":"10.1126\/science.1072309","article-title":"Role of formins in actin assembly: nucleation and barbed-end association","volume":"297","author":"Pruyne","year":"2002","journal-title":"Science"},{"key":"10.1016\/j.autrev.2024.103715_bb0060","doi-asserted-by":"crossref","first-page":"914","DOI":"10.1038\/ni.3457","article-title":"Pyrin inflammasome activation and RhoA signaling in the autoinflammatory diseases FMF and HIDS","volume":"17","author":"Park","year":"2016","journal-title":"Nat Immunol"},{"key":"10.1016\/j.autrev.2024.103715_bb0065","doi-asserted-by":"crossref","DOI":"10.1016\/j.celrep.2022.111636","article-title":"CDC42 regulates PYRIN inflammasome assembly","volume":"41","author":"Spel","year":"2022","journal-title":"Cell Rep"},{"key":"10.1016\/j.autrev.2024.103715_bb0070","doi-asserted-by":"crossref","first-page":"13501","DOI":"10.1073\/pnas.2135380100","article-title":"Pyrin binds the PSTPIP1\/CD2BP1 protein, defining familial Mediterranean fever and PAPA syndrome as disorders in the same pathway","volume":"100","author":"Shoham","year":"2003","journal-title":"Proc Natl Acad Sci U S A"},{"key":"10.1016\/j.autrev.2024.103715_bb0075","doi-asserted-by":"crossref","DOI":"10.3389\/fimmu.2020.604206","article-title":"Actin remodeling defects leading to autoinflammation and immune dysregulation","volume":"11","author":"Papa","year":"2021","journal-title":"Front Immunol"},{"key":"10.1016\/j.autrev.2024.103715_bb0080","doi-asserted-by":"crossref","first-page":"18","DOI":"10.5152\/TurkArchPediatr.2022.21303","article-title":"Rare autoinflammatory diseases","volume":"57","author":"Ba\u015faran","year":"2022","journal-title":"Turk Arch Pediatr"},{"key":"10.1016\/j.autrev.2024.103715_bb0085","doi-asserted-by":"crossref","first-page":"317","DOI":"10.1182\/blood-2008-02-139741","article-title":"Human C\/EBP-epsilon activator and repressor isoforms differentially reprogram myeloid lineage commitment and differentiation","volume":"113","author":"Bedi","year":"2009","journal-title":"Blood"},{"key":"10.1016\/j.autrev.2024.103715_bb0090","doi-asserted-by":"crossref","first-page":"2561","DOI":"10.1182\/blood.V97.9.2561","article-title":"Neutrophil-specific granule deficiency: homozygous recessive inheritance of a frameshift mutation in the gene encoding transcription factor CCAAT\/enhancer binding protein--epsilon","volume":"97","author":"Gombart","year":"2001","journal-title":"Blood"},{"key":"10.1016\/j.autrev.2024.103715_bb0095","doi-asserted-by":"crossref","first-page":"4181","DOI":"10.1182\/blood-2005-05-022004","article-title":"Growth factor independence-1 (Gfi-1) plays a role in mediating specific granule deficiency (SGD) in a patient lacking a gene-inactivating mutation in the C\/EBPepsilon gene","volume":"109","author":"Khanna-Gupta","year":"2007","journal-title":"Blood"},{"key":"10.1016\/j.autrev.2024.103715_bb0100","doi-asserted-by":"crossref","first-page":"871","DOI":"10.1182\/blood.V43.6.871.871","article-title":"Recurrent attacks of abdominal pain and fever with familial segmentation arrest of granulocytes","volume":"43","author":"Murros","year":"1974","journal-title":"Blood"},{"key":"10.1016\/j.autrev.2024.103715_bb0105","doi-asserted-by":"crossref","first-page":"1364","DOI":"10.1016\/j.jaci.2019.06.003","article-title":"Gain-of-function CEBPE mutation causes noncanonical autoinflammatory inflammasomopathy","volume":"144","author":"G\u00f6\u00f6s","year":"2019","journal-title":"J Allergy Clin Immunol"},{"key":"10.1016\/j.autrev.2024.103715_bb0110","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"},{"key":"10.1016\/j.autrev.2024.103715_bb0115","doi-asserted-by":"crossref","first-page":"2371","DOI":"10.1182\/blood-2006-10-055087","article-title":"Mutations in the cofilin partner Aip1\/Wdr1 cause autoinflammatory disease and macrothrombocytopenia","volume":"110","author":"Kile","year":"2007","journal-title":"Blood"},{"key":"10.1016\/j.autrev.2024.103715_bb0120","doi-asserted-by":"crossref","first-page":"927","DOI":"10.1084\/jem.20142384","article-title":"Aberrant actin depolymerization triggers the pyrin inflammasome and autoinflammatory disease that is dependent on IL-18, not IL-1\u03b2","volume":"212","author":"Kim","year":"2015","journal-title":"J Exp Med"},{"key":"10.1016\/j.autrev.2024.103715_bb0125","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"},{"key":"10.1016\/j.autrev.2024.103715_bb0130","doi-asserted-by":"crossref","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"},{"key":"10.1016\/j.autrev.2024.103715_bb0135","doi-asserted-by":"crossref","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":"10.1016\/j.autrev.2024.103715_bb0140","first-page":"5","article-title":"Spatial control of Cdc42 signalling by a GM130-RasGRF complex regulates polarity and tumorigenesis","author":"B","year":"2014","journal-title":"Nat Commun"},{"key":"10.1016\/j.autrev.2024.103715_bb0145","doi-asserted-by":"crossref","first-page":"499","DOI":"10.1038\/s41577-021-00500-7","article-title":"RHO GTPases: from new partners to complex immune syndromes","volume":"21","author":"El Masri","year":"2021","journal-title":"Nat Rev Immunol"},{"key":"10.1016\/j.autrev.2024.103715_bb0150","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"},{"key":"10.1016\/j.autrev.2024.103715_bb0155","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"},{"key":"10.1016\/j.autrev.2024.103715_bb0160","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.autrev.2024.103715_bb0165","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.autrev.2024.103715_bb0170","doi-asserted-by":"crossref","first-page":"1201","DOI":"10.1016\/j.jaci.2020.03.020","article-title":"A toxic palmitoylation of Cdc42 enhances NF-\u03baB signaling and drives a severe autoinflammatory syndrome","volume":"146","author":"Bekhouche","year":"2020","journal-title":"J Allergy Clin Immunol"},{"key":"10.1016\/j.autrev.2024.103715_bb0175","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"},{"key":"10.1016\/j.autrev.2024.103715_bb0180","doi-asserted-by":"crossref","DOI":"10.1084\/jem.20211889","article-title":"Trapping of CDC42 C-terminal variants in the Golgi drives pyrin inflammasome hyperactivation","volume":"219","author":"Nishitani-Isa","year":"2022","journal-title":"J Exp Med"},{"key":"10.1016\/j.autrev.2024.103715_bb0185","doi-asserted-by":"crossref","DOI":"10.1016\/j.clim.2023.109777","article-title":"C-terminal variants in CDC42 drive type I interferon-dependent autoinflammation in NOCARH syndrome reversible by ruxolitinib","volume":"256","author":"Kapp","year":"2023","journal-title":"Clin Immunol"},{"key":"10.1016\/j.autrev.2024.103715_bb0190","doi-asserted-by":"crossref","first-page":"554","DOI":"10.1007\/s10875-020-00778-7","article-title":"Infantile myelofibrosis and myeloproliferation with CDC42 dysfunction","volume":"40","author":"Verboon","year":"2020","journal-title":"J Clin Immunol"},{"key":"10.1016\/j.autrev.2024.103715_bb0195","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"},{"key":"10.1016\/j.autrev.2024.103715_bb0200","doi-asserted-by":"crossref","first-page":"567","DOI":"10.1007\/s10875-020-00742-5","article-title":"Systemic inflammation and myelofibrosis in a patient withTakenouchi-Kosaki syndrome due to CDC42 Tyr64CysMutation","volume":"40","author":"Bucciol","year":"2020","journal-title":"J Clin Immunol"},{"key":"10.1016\/j.autrev.2024.103715_bb0205","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.autrev.2024.103715_bb0210","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.autrev.2024.103715_bb0215","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"},{"key":"10.1016\/j.autrev.2024.103715_bb0220","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.autrev.2024.103715_bb0225","doi-asserted-by":"crossref","first-page":"14816","DOI":"10.1038\/ncomms14816","article-title":"Loss of the Arp2\/3 complex component ARPC1B causes platelet abnormalities and predisposes to inflammatory disease","volume":"8","author":"Kahr","year":"2017","journal-title":"Nat Commun"},{"key":"10.1016\/j.autrev.2024.103715_bb0230","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.autrev.2024.103715_bb0235","doi-asserted-by":"crossref","DOI":"10.1242\/dmm.050145","article-title":"ARPC5 deficiency leads to severe early-onset systemic inflammation and mortality","volume":"16","author":"Sindram","year":"2023","journal-title":"Dis Model Mech"},{"key":"10.1016\/j.autrev.2024.103715_bb0240","doi-asserted-by":"crossref","first-page":"3708","DOI":"10.1038\/s41467-023-39272-0","article-title":"Inherited ARPC5 mutations cause an actinopathy impairing cell motility and disrupting cytokine signaling","volume":"14","author":"Nunes-Santos","year":"2023","journal-title":"Nat Commun"},{"key":"10.1016\/j.autrev.2024.103715_bb0245","doi-asserted-by":"crossref","DOI":"10.7554\/eLife.82450","article-title":"ARPC5 isoforms and their regulation by calcium-calmodulin-N-WASP drive distinct Arp2\/3-dependent actin remodeling events in CD4 T cells","volume":"12","author":"Sadhu","year":"2023","journal-title":"Elife"},{"key":"10.1016\/j.autrev.2024.103715_bb0250","doi-asserted-by":"crossref","DOI":"10.1182\/blood.2022018486","article-title":"DOCK11 deficiency in patients with X-linked actinopathy and autoimmunity","author":"Boussard","year":"2023","journal-title":"Blood"},{"key":"10.1016\/j.autrev.2024.103715_bb0255","doi-asserted-by":"crossref","DOI":"10.1056\/NEJMoa2210054","article-title":"Systemic inflammation and normocytic anemia in DOCK11 deficiency","author":"Block","year":"2023","journal-title":"N Engl J Med"}],"container-title":["Autoimmunity Reviews"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1568997224002064?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1568997224002064?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,2,1]],"date-time":"2025-02-01T21:22:42Z","timestamp":1738444962000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1568997224002064"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,1]]},"references-count":51,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2025,1]]}},"alternative-id":["S1568997224002064"],"URL":"https:\/\/doi.org\/10.1016\/j.autrev.2024.103715","relation":{},"ISSN":["1568-9972"],"issn-type":[{"value":"1568-9972","type":"print"}],"subject":[],"published":{"date-parts":[[2025,1]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Current landscape of monogenic autoinflammatory actinopathies: A literature review","name":"articletitle","label":"Article Title"},{"value":"Autoimmunity Reviews","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.autrev.2024.103715","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"simple-article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2024 Elsevier B.V. All rights are reserved, including those for text and data mining, AI training, and similar technologies.","name":"copyright","label":"Copyright"}],"article-number":"103715"}}