{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,10]],"date-time":"2026-11-10T12:57:23Z","timestamp":1794315443271,"version":"4.9.0"},"reference-count":149,"publisher":"Elsevier BV","issue":"11","license":[{"start":{"date-parts":[[2025,11,1]],"date-time":"2025-11-01T00:00:00Z","timestamp":1761955200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2025,11,1]],"date-time":"2025-11-01T00:00:00Z","timestamp":1761955200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2025,11,1]],"date-time":"2025-11-01T00:00:00Z","timestamp":1761955200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-017"},{"start":{"date-parts":[[2025,11,1]],"date-time":"2025-11-01T00:00:00Z","timestamp":1761955200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-037"},{"start":{"date-parts":[[2025,11,1]],"date-time":"2025-11-01T00:00:00Z","timestamp":1761955200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-012"},{"start":{"date-parts":[[2025,11,1]],"date-time":"2025-11-01T00:00:00Z","timestamp":1761955200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-029"},{"start":{"date-parts":[[2025,11,1]],"date-time":"2025-11-01T00:00:00Z","timestamp":1761955200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-004"}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Autoimmunity Reviews"],"published-print":{"date-parts":[[2025,11]]},"DOI":"10.1016\/j.autrev.2025.103901","type":"journal-article","created":{"date-parts":[[2025,8,5]],"date-time":"2025-08-05T22:36:54Z","timestamp":1754433414000},"page":"103901","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":10,"title":["Systemic auto-inflammatory diseases, auto-immune diseases and immune deficiencies: From independent to overlapped diseases approach"],"prefix":"10.1016","volume":"24","author":[{"given":"Anne-Sophie","family":"Parentelli","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne-Aur\u00e9lie","family":"Lopes","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fr\u00e9d\u00e9ric","family":"Rieux-Laucat","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Olivier","family":"Hermine","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"issue":"1","key":"10.1016\/j.autrev.2025.103901_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"},{"issue":"8","key":"10.1016\/j.autrev.2025.103901_bb0010","doi-asserted-by":"crossref","first-page":"832","DOI":"10.1038\/ni.3777","article-title":"The monogenic autoinflammatory diseases define new pathways in human innate immunity and inflammation","volume":"18","author":"Manthiram","year":"2017","journal-title":"Nat Immunol"},{"issue":"4","key":"10.1016\/j.autrev.2025.103901_bb0015","doi-asserted-by":"crossref","DOI":"10.1016\/j.berh.2020.101529","article-title":"Systemic autoinflammatory diseases: clinical state of the art","volume":"34","author":"Georgin-Lavialle","year":"2020","journal-title":"Best Pract Res Clin Rheumatol"},{"issue":"8","key":"10.1016\/j.autrev.2025.103901_bb0020","doi-asserted-by":"crossref","first-page":"509","DOI":"10.1038\/s41581-023-00720-1","article-title":"Pathogenesis of autoimmune disease","volume":"19","author":"Pisetsky","year":"2023","journal-title":"Nat Rev Nephrol"},{"issue":"2","key":"10.1016\/j.autrev.2025.103901_bb0025","doi-asserted-by":"crossref","first-page":"e99","DOI":"10.1016\/S2665-9913(19)30142-0","article-title":"Contribution of rare and predicted pathogenic gene variants to childhood-onset lupus: a large, genetic panel analysis of British and French cohorts","volume":"2","author":"Belot","year":"2020","journal-title":"Lancet Rheumatol"},{"issue":"1","key":"10.1016\/j.autrev.2025.103901_bb0030","doi-asserted-by":"crossref","first-page":"107","DOI":"10.1016\/j.mcna.2023.06.012","article-title":"Common Variable Immunodeficiency","volume":"108","author":"Remiker","year":"2024","journal-title":"Med Clin North Am"},{"issue":"6","key":"10.1016\/j.autrev.2025.103901_bb0035","doi-asserted-by":"crossref","first-page":"835","DOI":"10.1016\/j.immuni.2007.11.012","article-title":"Human primary immunodeficiency diseases","volume":"27","author":"Fischer","year":"2007","journal-title":"Immunity"},{"issue":"5","key":"10.1016\/j.autrev.2025.103901_bb0040","doi-asserted-by":"crossref","first-page":"1388","DOI":"10.1016\/j.jaci.2016.12.978","article-title":"Autoimmune and inflammatory manifestations occur frequently in patients with primary immunodeficiencies","volume":"140","author":"Fischer","year":"2017","journal-title":"J Allergy Clin Immunol"},{"issue":"2","key":"10.1016\/j.autrev.2025.103901_bb0045","doi-asserted-by":"crossref","first-page":"228","DOI":"10.1097\/MOP.0000000000001331","article-title":"Clinical updates in inborn errors of immunity: a focus on the noninfectious clinical manifestations","volume":"36","author":"Campbell","year":"2024","journal-title":"Curr Opin Pediatr"},{"issue":"2","key":"10.1016\/j.autrev.2025.103901_bb0050","doi-asserted-by":"crossref","first-page":"126","DOI":"10.1016\/j.it.2015.12.006","article-title":"Primary Immunodeficiencies and inflammatory disease: a growing genetic intersection","volume":"37","author":"Fodil","year":"2016","journal-title":"Trends Immunol"},{"issue":"7488","key":"10.1016\/j.autrev.2025.103901_bb0055","doi-asserted-by":"crossref","first-page":"376","DOI":"10.1038\/nature12873","article-title":"Genetics of rheumatoid arthritis contributes to biology and drug discovery","volume":"506","author":"Okada","year":"2014","journal-title":"Nature"},{"issue":"2","key":"10.1016\/j.autrev.2025.103901_bb0060","doi-asserted-by":"crossref","first-page":"199","DOI":"10.1016\/j.immuni.2012.08.002","article-title":"Regulation of humoral immunity by complement","volume":"37","author":"Carroll","year":"2012","journal-title":"Immunity"},{"key":"10.1016\/j.autrev.2025.103901_bb0065","doi-asserted-by":"crossref","first-page":"125","DOI":"10.1016\/j.jaut.2015.08.004","article-title":"Immunogenetics of systemic lupus erythematosus: a comprehensive review","volume":"64","author":"Ghodke-Puranik","year":"2015","journal-title":"J Autoimmun"},{"issue":"1","key":"10.1016\/j.autrev.2025.103901_bb0070","doi-asserted-by":"crossref","first-page":"7","DOI":"10.1038\/nrrheum.2017.198","article-title":"Autoimmunity and primary immunodeficiency: two sides of the same coin?","volume":"14","author":"Schmidt","year":"2018","journal-title":"Nat Rev Rheumatol"},{"issue":"10","key":"10.1016\/j.autrev.2025.103901_bb0075","doi-asserted-by":"crossref","first-page":"1818","DOI":"10.1093\/rheumatology\/keu194","article-title":"Serum immunoglobulin levels and risk factors for hypogammaglobulinaemia during long-term maintenance therapy with rituximab in patients with granulomatosis with polyangiitis","volume":"53","author":"Besada","year":"2014","journal-title":"Rheumatol Oxf Engl"},{"issue":"6","key":"10.1016\/j.autrev.2025.103901_bb0080","doi-asserted-by":"crossref","DOI":"10.1212\/NXI.0000000000000498","article-title":"Rituximab-induced hypogammaglobulinemia in patients with neuromyelitis optica spectrum disorders","volume":"5","author":"Marcinn\u00f2","year":"2018","journal-title":"Neurol Neuroimmunol Neuroinflamm"},{"issue":"10","key":"10.1016\/j.autrev.2025.103901_bb0085","doi-asserted-by":"crossref","first-page":"1761","DOI":"10.3899\/jrheum.150051","article-title":"Longterm safety of rituximab: final report of the rheumatoid arthritis global clinical trial program over 11 years","volume":"42","author":"Van Vollenhoven","year":"2015","journal-title":"J Rheumatol"},{"key":"10.1016\/j.autrev.2025.103901_bb0090","doi-asserted-by":"crossref","first-page":"88","DOI":"10.1186\/1741-7015-11-88","article-title":"Biologic therapy for autoimmune diseases: an update","volume":"11","author":"Rosman","year":"2013","journal-title":"BMC Med"},{"key":"10.1016\/j.autrev.2025.103901_bb0095","doi-asserted-by":"crossref","DOI":"10.3389\/fmed.2022.930071","article-title":"Effectiveness and safety of JAK inhibitors in autoinflammatory diseases: a systematic review","volume":"9","author":"Boyadzhieva","year":"2022","journal-title":"Front Med"},{"issue":"7","key":"10.1016\/j.autrev.2025.103901_bb0100","doi-asserted-by":"crossref","first-page":"1650","DOI":"10.1182\/blood-2011-09-377945","article-title":"Morbidity and mortality in common variable immune deficiency over 4 decades","volume":"119","author":"Resnick","year":"2012","journal-title":"Blood"},{"key":"10.1016\/j.autrev.2025.103901_bb0105","doi-asserted-by":"crossref","DOI":"10.1016\/j.blre.2023.101112","article-title":"Primary and secondary immune thrombocytopenia (ITP): time for a rethink","volume":"61","author":"Gonz\u00e1lez-L\u00f3pez","year":"2023","journal-title":"Blood Rev"},{"key":"10.1016\/j.autrev.2025.103901_bb0110","doi-asserted-by":"crossref","first-page":"52","DOI":"10.1016\/j.clim.2017.12.009","article-title":"Pediatric-onset Evans syndrome: heterogeneous presentation and high frequency of monogenic disorders including LRBA and CTLA4 mutations","volume":"188","author":"Besnard","year":"2018","journal-title":"Clin Immunol Orlando Fla"},{"issue":"6","key":"10.1016\/j.autrev.2025.103901_bb0115","doi-asserted-by":"crossref","first-page":"383","DOI":"10.1016\/j.revmed.2016.10.388","article-title":"Primary immunodeficiency and autoimmunity","volume":"38","author":"Guffroy","year":"2017","journal-title":"Rev Med Interne"},{"key":"10.1016\/j.autrev.2025.103901_bb0120","doi-asserted-by":"crossref","first-page":"2411","DOI":"10.3389\/fimmu.2018.02411","article-title":"Clinical, immunological, and molecular heterogeneity of 173 patients with the phenotype of immune dysregulation, Polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome","volume":"9","author":"Gambineri","year":"2018","journal-title":"Front Immunol"},{"issue":"5","key":"10.1016\/j.autrev.2025.103901_bb0125","doi-asserted-by":"crossref","first-page":"885","DOI":"10.1016\/S0092-8674(00)81448-8","article-title":"Partial V(D)J recombination activity leads to Omenn syndrome","volume":"93","author":"Villa","year":"1998","journal-title":"Cell"},{"issue":"12","key":"10.1016\/j.autrev.2025.103901_bb0130","doi-asserted-by":"crossref","first-page":"718","DOI":"10.1007\/s004310100816","article-title":"Reviewing Omenn syndrome","volume":"160","author":"Aleman","year":"2001","journal-title":"Eur J Pediatr"},{"issue":"6","key":"10.1016\/j.autrev.2025.103901_bb0135","doi-asserted-by":"crossref","first-page":"1082","DOI":"10.1016\/j.jaci.2008.09.037","article-title":"Omenn syndrome: inflammation in leaky severe combined immunodeficiency","volume":"122","author":"Villa","year":"2008","journal-title":"J Allergy Clin Immunol"},{"issue":"4","key":"10.1016\/j.autrev.2025.103901_bb0140","doi-asserted-by":"crossref","first-page":"791","DOI":"10.1016\/j.ajhg.2024.02.013","article-title":"Expanding the PRAAS spectrum: De novo mutations of immunoproteasome subunit \u03b2-type 10 in six infants with SCID-Omenn syndrome","volume":"111","author":"Van Der Made","year":"2024","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.autrev.2025.103901_bb0145","doi-asserted-by":"crossref","first-page":"121","DOI":"10.1111\/j.1600-065X.1994.tb00850.x","article-title":"The genetic basis of chronic granulomatous disease","volume":"138","author":"Roos","year":"1994","journal-title":"Immunol Rev"},{"issue":"3","key":"10.1016\/j.autrev.2025.103901_bb0150","doi-asserted-by":"crossref","first-page":"242","DOI":"10.1111\/pai.12527","article-title":"Chronic granulomatous disease: clinical, molecular, and therapeutic aspects","volume":"27","author":"Chiriaco","year":"2016","journal-title":"Pediatr Allergy Immunol"},{"issue":"2","key":"10.1016\/j.autrev.2025.103901_bb0155","doi-asserted-by":"crossref","first-page":"101","DOI":"10.1007\/s12016-020-08800-x","article-title":"Chronic granulomatous disease: a comprehensive review","volume":"61","author":"Yu","year":"2021","journal-title":"Clin Rev Allergy Immunol"},{"key":"10.1016\/j.autrev.2025.103901_bb0160","doi-asserted-by":"crossref","first-page":"36","DOI":"10.3389\/fimmu.2016.00036","article-title":"Early components of the complement classical activation pathway in human systemic autoimmune diseases","volume":"7","author":"Lintner","year":"2016","journal-title":"Front Immunol"},{"key":"10.1016\/j.autrev.2025.103901_bb0165","doi-asserted-by":"crossref","DOI":"10.1016\/j.jaut.2022.102979","article-title":"The complement system and human autoimmune diseases","volume":"137","author":"Coss","year":"2023","journal-title":"J Autoimmun"},{"key":"10.1016\/j.autrev.2025.103901_bb0170","doi-asserted-by":"crossref","first-page":"286","DOI":"10.1016\/j.coi.2021.07.011","article-title":"Infections in the monogenic autoimmune syndrome APECED","volume":"72","author":"Oikonomou","year":"2021","journal-title":"Curr Opin Immunol"},{"issue":"1","key":"10.1016\/j.autrev.2025.103901_bb0175","doi-asserted-by":"crossref","first-page":"124","DOI":"10.1038\/sj.cdd.4401190","article-title":"Autoimmune lymphoproliferative syndromes: genetic defects of apoptosis pathways","volume":"10","author":"Rieux-Laucat","year":"2003","journal-title":"Cell Death Differ"},{"issue":"2","key":"10.1016\/j.autrev.2025.103901_bb0180","doi-asserted-by":"crossref","first-page":"245","DOI":"10.5858\/arpa.2018-0190-RS","article-title":"Autoimmune lymphoproliferative syndrome: An overview","volume":"144","author":"Matson","year":"2020","journal-title":"Arch Pathol Lab Med"},{"issue":"5215","key":"10.1016\/j.autrev.2025.103901_bb0185","doi-asserted-by":"crossref","first-page":"1347","DOI":"10.1126\/science.7539157","article-title":"Mutations in Fas associated with human lymphoproliferative syndrome and autoimmunity","volume":"268","author":"Rieux-Laucat","year":"1995","journal-title":"Science"},{"issue":"16","key":"10.1016\/j.autrev.2025.103901_bb0190","doi-asserted-by":"crossref","first-page":"3117","DOI":"10.1182\/blood-2012-12-469544","article-title":"Loss-of-function of the protein kinase C \u03b4 (PKC\u03b4) causes a B-cell lymphoproliferative syndrome in humans","volume":"121","author":"Kuehn","year":"2013","journal-title":"Blood"},{"issue":"10","key":"10.1016\/j.autrev.2025.103901_bb0195","doi-asserted-by":"crossref","DOI":"10.1016\/j.autrev.2019.102361","article-title":"Monogenic lupus: dissecting heterogeneity","volume":"18","author":"Omarjee","year":"2019","journal-title":"Autoimmun Rev"},{"issue":"1","key":"10.1016\/j.autrev.2025.103901_bb0200","doi-asserted-by":"crossref","first-page":"5341","DOI":"10.1038\/s41467-020-18925-4","article-title":"Early-onset autoimmunity associated with SOCS1 haploinsufficiency","volume":"11","author":"Hadjadj","year":"2020","journal-title":"Nat Commun"},{"issue":"9","key":"10.1016\/j.autrev.2025.103901_bb0205","doi-asserted-by":"crossref","DOI":"10.1084\/jem.20232337","article-title":"Haploinsufficiency in PTPN2 leads to early-onset systemic autoimmunity from Evans syndrome to lupus","volume":"221","author":"Jeanpierre","year":"2024","journal-title":"J Exp Med"},{"issue":"4","key":"10.1016\/j.autrev.2025.103901_bb0210","doi-asserted-by":"crossref","first-page":"1081","DOI":"10.1016\/j.jaci.2022.09.002","article-title":"Monogenic early-onset lymphoproliferation and autoimmunity: natural history of STAT3 gain-of-function syndrome","volume":"151","author":"Leiding","year":"2023","journal-title":"J Allergy Clin Immunol"},{"issue":"5","key":"10.1016\/j.autrev.2025.103901_bb0215","doi-asserted-by":"crossref","first-page":"1071","DOI":"10.1007\/s10875-022-01257-x","article-title":"Impact of JAK inhibitors in pediatric patients with STAT1 gain of function (GOF) Mutations-10 children and review of the literature","volume":"42","author":"Dey\u00e0-Mart\u00ednez","year":"2022","journal-title":"J Clin Immunol"},{"issue":"12","key":"10.1016\/j.autrev.2025.103901_bb0220","doi-asserted-by":"crossref","first-page":"1410","DOI":"10.1038\/nm.3746","article-title":"Autosomal dominant immune dysregulation syndrome in humans with CTLA4 mutations","volume":"20","author":"Schubert","year":"2014","journal-title":"Nat Med"},{"issue":"1","key":"10.1016\/j.autrev.2025.103901_bb0225","doi-asserted-by":"crossref","first-page":"28","DOI":"10.1111\/cei.13600","article-title":"Comprehensive comparison between 222 CTLA-4 haploinsufficiency and 212 LRBA deficiency patients: a systematic review","volume":"205","author":"Jamee","year":"2021","journal-title":"Clin Exp Immunol"},{"issue":"6","key":"10.1016\/j.autrev.2025.103901_bb0230","doi-asserted-by":"crossref","first-page":"986","DOI":"10.1016\/j.ajhg.2012.04.015","article-title":"Deleterious mutations in LRBA are associated with a syndrome of immune deficiency and autoimmunity","volume":"90","author":"Lopez-Herrera","year":"2012","journal-title":"Am J Hum Genet"},{"issue":"3","key":"10.1016\/j.autrev.2025.103901_bb0235","doi-asserted-by":"crossref","first-page":"323","DOI":"10.1007\/s12016-019-08738-9","article-title":"Clinical, immunological, and genetic features in patients with activated PI3K\u03b4 syndrome (APDS): a systematic review","volume":"59","author":"Jamee","year":"2020","journal-title":"Clin Rev Allergy Immunol"},{"issue":"6","key":"10.1016\/j.autrev.2025.103901_bb0240","doi-asserted-by":"crossref","first-page":"1311","DOI":"10.1084\/jem.20182304","article-title":"Human interleukin-2 receptor \u03b2 mutations associated with defects in immunity and peripheral tolerance","volume":"216","author":"Zhang","year":"2019","journal-title":"J Exp Med"},{"issue":"1","key":"10.1016\/j.autrev.2025.103901_bb0245","doi-asserted-by":"crossref","first-page":"121","DOI":"10.1186\/s12969-021-00623-0","article-title":"Leukocytoclastic vasculitis in patients with IL12B or IL12RB1 deficiency: case report and review of the literature","volume":"19","author":"Sharifinejad","year":"2021","journal-title":"Pediatr Rheumatol Online J"},{"issue":"4","key":"10.1016\/j.autrev.2025.103901_bb0250","doi-asserted-by":"crossref","first-page":"356","DOI":"10.24953\/turkjped.2016.04.002","article-title":"Clinical and genetic features of il12rb1 deficiency: single center experience of 18 patients","volume":"58","author":"Tan","year":"2016","journal-title":"Turk J Pediatr"},{"issue":"10","key":"10.1016\/j.autrev.2025.103901_bb0255","doi-asserted-by":"crossref","first-page":"1329","DOI":"10.1002\/humu.22380","article-title":"IL-12R\u03b21 deficiency: mutation update and description of the IL12RB1 variation database","volume":"34","author":"Van de Vosse","year":"2013","journal-title":"Hum Mutat"},{"key":"10.1016\/j.autrev.2025.103901_bb0260","doi-asserted-by":"crossref","first-page":"209","DOI":"10.3389\/fimmu.2012.00209","article-title":"Autoimmunity in wiskott-Aldrich syndrome: an unsolved enigma","volume":"3","author":"Catucci","year":"2012","journal-title":"Front Immunol"},{"key":"10.1016\/j.autrev.2025.103901_bb0265","doi-asserted-by":"crossref","first-page":"831","DOI":"10.3389\/fimmu.2020.00831","article-title":"Clinical, immunological, and genetic features in 49 patients with ZAP-70 deficiency: a systematic review","volume":"11","author":"Sharifinejad","year":"2020","journal-title":"Front Immunol"},{"issue":"7","key":"10.1016\/j.autrev.2025.103901_bb0270","doi-asserted-by":"crossref","first-page":"1185","DOI":"10.1084\/jem.20151110","article-title":"Early onset combined immunodeficiency and autoimmunity in patients with loss-of-function mutation in LAT","volume":"213","author":"Keller","year":"2016","journal-title":"J Exp Med"},{"issue":"12","key":"10.1016\/j.autrev.2025.103901_bb0275","doi-asserted-by":"crossref","first-page":"1019","DOI":"10.1182\/blood.2020008629","article-title":"SASH3 variants cause a novel form of X-linked combined immunodeficiency with immune dysregulation","volume":"138","author":"Delmonte","year":"2021","journal-title":"Blood"},{"issue":"17","key":"10.1016\/j.autrev.2025.103901_bb0280","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":"7","key":"10.1016\/j.autrev.2025.103901_bb0285","doi-asserted-by":"crossref","first-page":"2444","DOI":"10.1182\/bloodadvances.2021006367","article-title":"Identification of germline monoallelic mutations in IKZF2 in patients with immune dysregulation","volume":"6","author":"Shahin","year":"2022","journal-title":"Blood Adv"},{"issue":"4","key":"10.1016\/j.autrev.2025.103901_bb0290","doi-asserted-by":"crossref","first-page":"901","DOI":"10.1016\/j.jaci.2019.11.051","article-title":"Characterization of the clinical and immunologic phenotype and management of 157 individuals with 56 distinct heterozygous NFKB1 mutations","volume":"146","author":"Lorenzini","year":"2020","journal-title":"J Allergy Clin Immunol"},{"key":"10.1016\/j.autrev.2025.103901_bb0295","doi-asserted-by":"crossref","first-page":"297","DOI":"10.3389\/fimmu.2019.00297","article-title":"Clinical and immunological phenotype of patients with primary immunodeficiency due to damaging mutations in NFKB2","volume":"10","author":"Klemann","year":"2019","journal-title":"Front Immunol"},{"issue":"5","key":"10.1016\/j.autrev.2025.103901_bb0300","doi-asserted-by":"crossref","first-page":"812","DOI":"10.1016\/j.ajhg.2013.09.009","article-title":"Germline mutations in NFKB2 implicate the noncanonical NF-\u03baB pathway in the pathogenesis of common variable immunodeficiency","volume":"93","author":"Chen","year":"2013","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.autrev.2025.103901_bb0305","doi-asserted-by":"crossref","DOI":"10.1016\/j.jaut.2022.102946","article-title":"NF\u03baB pathway dysregulation due to reduced RelB expression leads to severe autoimmune disorders and declining immunity","volume":"137","author":"Sharfe","year":"2023","journal-title":"J Autoimmun"},{"issue":"19","key":"10.1016\/j.autrev.2025.103901_bb0310","doi-asserted-by":"crossref","first-page":"1971","DOI":"10.1056\/NEJMoa0900082","article-title":"STIM1 mutation associated with a syndrome of immunodeficiency and autoimmunity","volume":"360","author":"Picard","year":"2009","journal-title":"N Engl J Med"},{"issue":"3","key":"10.1016\/j.autrev.2025.103901_bb0315","first-page":"1523","article-title":"Antiviral and regulatory T cell immunity in a patient with stromal interaction molecule 1 deficiency","volume":"188","author":"Fuchs","year":"2012","journal-title":"J Immunol Baltim Md 1950"},{"issue":"1","key":"10.1016\/j.autrev.2025.103901_bb0320","doi-asserted-by":"crossref","first-page":"45","DOI":"10.1111\/nyas.12938","article-title":"Diseases caused by mutations in ORAI1 and STIM1","volume":"1356","author":"Lacruz","year":"2015","journal-title":"Ann N Y Acad Sci"},{"issue":"1","key":"10.1016\/j.autrev.2025.103901_bb0325","doi-asserted-by":"crossref","first-page":"128","DOI":"10.1046\/j.1365-2249.2003.02113.x","article-title":"Anti-cytokine autoantibodies in autoimmunity: preponderance of neutralizing autoantibodies against interferon-alpha, interferon-omega and interleukin-12 in patients with thymoma and\/or myasthenia gravis","volume":"132","author":"Meager","year":"2003","journal-title":"Clin Exp Immunol"},{"issue":"2","key":"10.1016\/j.autrev.2025.103901_bb0330","doi-asserted-by":"crossref","first-page":"299","DOI":"10.1084\/jem.20091669","article-title":"Chronic mucocutaneous candidiasis in APECED or thymoma patients correlates with autoimmunity to Th17-associated cytokines","volume":"207","author":"Kisand","year":"2010","journal-title":"J Exp Med"},{"issue":"2","key":"10.1016\/j.autrev.2025.103901_bb0335","doi-asserted-by":"crossref","first-page":"291","DOI":"10.1084\/jem.20091983","article-title":"Autoantibodies against IL-17A, IL-17F, and IL-22 in patients with chronic mucocutaneous candidiasis and autoimmune polyendocrine syndrome type I","volume":"207","author":"Puel","year":"2010","journal-title":"J Exp Med"},{"issue":"2","key":"10.1016\/j.autrev.2025.103901_bb0340","doi-asserted-by":"crossref","first-page":"673","DOI":"10.1182\/blood-2003-04-1065","article-title":"Naturally occurring anti-IFN-gamma autoantibody and severe infections with Mycobacterium cheloneae and Burkholderia cocovenenans","volume":"103","author":"H\u00f6flich","year":"2004","journal-title":"Blood"},{"issue":"3","key":"10.1016\/j.autrev.2025.103901_bb0345","doi-asserted-by":"crossref","first-page":"728","DOI":"10.1172\/JCI200523087","article-title":"AIRE deficiency in thymus of 2 patients with Omenn syndrome","volume":"115","author":"Cavadini","year":"2005","journal-title":"J Clin Invest"},{"issue":"2","key":"10.1016\/j.autrev.2025.103901_bb0350","doi-asserted-by":"crossref","first-page":"194","DOI":"10.3390\/cells11020194","article-title":"Phylogeny structure, functions, and role of AIRE in the formation of T-cell subsets","volume":"11","author":"Shevyrev","year":"2022","journal-title":"Cells"},{"issue":"4","key":"10.1016\/j.autrev.2025.103901_bb0355","doi-asserted-by":"crossref","first-page":"1525","DOI":"10.1172\/JCI81894","article-title":"Estrogen-mediated downregulation of AIRE influences sexual dimorphism in autoimmune diseases","volume":"126","author":"Dragin","year":"2016","journal-title":"J Clin Invest"},{"issue":"3","key":"10.1016\/j.autrev.2025.103901_bb0365","doi-asserted-by":"crossref","first-page":"414","DOI":"10.1128\/CMR.15.3.414-429.2002","article-title":"NF-kappaB family of transcription factors: central regulators of innate and adaptive immune functions","volume":"15","author":"Caama\u00f1o","year":"2002","journal-title":"Clin Microbiol Rev"},{"issue":"7340","key":"10.1016\/j.autrev.2025.103901_bb0370","doi-asserted-by":"crossref","first-page":"591","DOI":"10.1038\/nature09816","article-title":"Linear ubiquitination prevents inflammation and regulates immune signalling","volume":"471","author":"Gerlach","year":"2011","journal-title":"Nature"},{"issue":"6","key":"10.1016\/j.autrev.2025.103901_bb0375","doi-asserted-by":"crossref","first-page":"939","DOI":"10.1084\/jem.20141130","article-title":"Human HOIP and LUBAC deficiency underlies autoinflammation, immunodeficiency, amylopectinosis, and lymphangiectasia","volume":"212","author":"Boisson","year":"2015","journal-title":"J Exp Med"},{"issue":"12","key":"10.1016\/j.autrev.2025.103901_bb0380","doi-asserted-by":"crossref","first-page":"1178","DOI":"10.1038\/ni.2457","article-title":"Immunodeficiency, autoinflammation and amylopectinosis in humans with inherited HOIL-1 and LUBAC deficiency","volume":"13","author":"Boisson","year":"2012","journal-title":"Nat Immunol"},{"key":"10.1016\/j.autrev.2025.103901_bb0385","doi-asserted-by":"crossref","first-page":"479","DOI":"10.3389\/fimmu.2019.00479","article-title":"Second case of HOIP deficiency expands clinical features and defines inflammatory transcriptome regulated by LUBAC","volume":"10","author":"Oda","year":"2019","journal-title":"Front Immunol"},{"issue":"6404","key":"10.1016\/j.autrev.2025.103901_bb0390","doi-asserted-by":"crossref","first-page":"810","DOI":"10.1126\/science.aar2641","article-title":"Biallelic RIPK1 mutations in humans cause severe immunodeficiency, arthritis, and intestinal inflammation","volume":"361","author":"Cuchet-Louren\u00e7o","year":"2018","journal-title":"Science"},{"issue":"3","key":"10.1016\/j.autrev.2025.103901_bb0395","doi-asserted-by":"crossref","first-page":"970","DOI":"10.1073\/pnas.1813582116","article-title":"Human RIPK1 deficiency causes combined immunodeficiency and inflammatory bowel diseases","volume":"116","author":"Li","year":"2019","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1016\/j.autrev.2025.103901_bb0400","doi-asserted-by":"crossref","DOI":"10.3389\/fimmu.2022.1041315","article-title":"RIPK1 mutations causing infantile-onset IBD with inflammatory and fistulizing features","volume":"13","author":"Sultan","year":"2022","journal-title":"Front Immunol"},{"issue":"6","key":"10.1016\/j.autrev.2025.103901_bb0405","doi-asserted-by":"crossref","first-page":"445","DOI":"10.3109\/08830185.2015.1055331","article-title":"EDA-ID and IP, two faces of the same coin: how the same IKBKG \/ NEMO mutation affecting the NF-\u03baB pathway can cause immunodeficiency and\/or inflammation","volume":"34","author":"Fusco","year":"2015","journal-title":"Int Rev Immunol"},{"issue":"6","key":"10.1016\/j.autrev.2025.103901_bb0410","doi-asserted-by":"crossref","DOI":"10.1172\/JCI128808","article-title":"Genetically programmed alternative splicing of NEMO mediates an autoinflammatory disease phenotype","volume":"132","author":"Lee","year":"2022","journal-title":"J Clin Invest"},{"issue":"2","key":"10.1016\/j.autrev.2025.103901_bb0415","doi-asserted-by":"crossref","first-page":"285","DOI":"10.1007\/s10875-020-00953-w","article-title":"Immune dysfunction in Mendelian disorders of POLA1 deficiency","volume":"41","author":"Starokadomskyy","year":"2021","journal-title":"J Clin Immunol"},{"issue":"6","key":"10.1016\/j.autrev.2025.103901_bb0420","doi-asserted-by":"crossref","DOI":"10.1016\/j.celrep.2020.107633","article-title":"Systemic type I IFN inflammation in human ISG15 deficiency leads to necrotizing skin lesions","volume":"31","author":"Martin-Fernandez","year":"2020","journal-title":"Cell Rep"},{"issue":"2","key":"10.1016\/j.autrev.2025.103901_bb0425","doi-asserted-by":"crossref","first-page":"803","DOI":"10.1016\/j.jaip.2020.11.007","article-title":"Overview of STING-associated vasculopathy with onset in infancy (SAVI) among 21 patients","volume":"9","author":"Fr\u00e9mond","year":"2021","journal-title":"J Allergy Clin Immunol Pract"},{"key":"10.1016\/j.autrev.2025.103901_bb0430","doi-asserted-by":"crossref","DOI":"10.3389\/fimmu.2021.750537","article-title":"Molecular tuning of actin dynamics in leukocyte migration as revealed by immune-related actinopathies","author":"Kamnev","year":"2021","journal-title":"Front Immunol"},{"issue":"1","key":"10.1016\/j.autrev.2025.103901_bb0435","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1007\/s10875-022-01343-0","article-title":"Clinical and therapeutic aspects of Sideroblastic Anaemia with B-cell immunodeficiency, periodic fever and developmental delay (SIFD) syndrome: a systematic review","volume":"43","author":"Maccora","year":"2023","journal-title":"J Clin Immunol"},{"issue":"6","key":"10.1016\/j.autrev.2025.103901_bb0440","doi-asserted-by":"crossref","first-page":"301","DOI":"10.1097\/MD.0b013e318190cfb7","article-title":"Long-term follow-up, clinical features, and quality of life in a series of 103 patients with hyperimmunoglobulinemia D syndrome","volume":"87","author":"Van der Hilst","year":"2008","journal-title":"Medicine (Baltimore)"},{"issue":"1","key":"10.1016\/j.autrev.2025.103901_bb0445","doi-asserted-by":"crossref","first-page":"e152","DOI":"10.1542\/peds.2010-3639","article-title":"Mevalonate kinase deficiency: a survey of 50 patients","volume":"128","author":"Bader-Meunier","year":"2011","journal-title":"Pediatrics"},{"key":"10.1016\/j.autrev.2025.103901_bb0450","doi-asserted-by":"crossref","DOI":"10.7554\/eLife.04494","article-title":"Phenotypic complementation of genetic immunodeficiency by chronic herpesvirus infection","volume":"4","author":"MacDuff","year":"2015","journal-title":"eLife"},{"issue":"4","key":"10.1016\/j.autrev.2025.103901_bb0455","doi-asserted-by":"crossref","first-page":"1669","DOI":"10.1172\/JCI129301","article-title":"Distinct interferon signatures and cytokine patterns define additional systemic autoinflammatory diseases","volume":"130","author":"De Jesus","year":"2020","journal-title":"J Clin Invest"},{"issue":"5","key":"10.1016\/j.autrev.2025.103901_bb0460","doi-asserted-by":"crossref","first-page":"764","DOI":"10.1038\/s41590-024-01817-w","article-title":"Biallelic human SHARPIN loss of function induces autoinflammation and immunodeficiency","volume":"25","author":"Oda","year":"2024","journal-title":"Nat Immunol"},{"issue":"15","key":"10.1016\/j.autrev.2025.103901_bb0465","doi-asserted-by":"crossref","first-page":"4369","DOI":"10.3390\/jcm11154369","article-title":"Variant in the PLCG2 gene May cause a phenotypic overlap of APLAID\/PLAID: case series and literature review","volume":"11","author":"Welzel","year":"2022","journal-title":"J Clin Med"},{"issue":"1","key":"10.1016\/j.autrev.2025.103901_bb0470","doi-asserted-by":"crossref","first-page":"230","DOI":"10.1016\/j.jaci.2023.08.036","article-title":"PLCG2-associated immune dysregulation (PLAID) comprises broad and distinct clinical presentations related to functional classes of genetic variants","volume":"153","author":"Baysac","year":"2024","journal-title":"J Allergy Clin Immunol"},{"issue":"1","key":"10.1016\/j.autrev.2025.103901_bb0475","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":"4","key":"10.1016\/j.autrev.2025.103901_bb0480","doi-asserted-by":"crossref","first-page":"780","DOI":"10.1007\/s10875-023-01441-7","article-title":"Thalidomide as an effective treatment in Sideroblastic Anemia, immunodeficiency, periodic fevers, and developmental delay (SIFD)","volume":"43","author":"Li","year":"2023","journal-title":"J Clin Immunol"},{"issue":"1","key":"10.1016\/j.autrev.2025.103901_bb0485","doi-asserted-by":"crossref","first-page":"112","DOI":"10.1182\/blood-2012-08-439083","article-title":"A novel syndrome of congenital sideroblastic anemia, B-cell immunodeficiency, periodic fevers, and developmental delay (SIFD)","volume":"122","author":"Wiseman","year":"2013","journal-title":"Blood"},{"issue":"1","key":"10.1016\/j.autrev.2025.103901_bb0490","doi-asserted-by":"crossref","first-page":"128","DOI":"10.1016\/j.gendis.2020.01.005","article-title":"Novel biallelic TRNT1 mutations lead to atypical SIFD and multiple immune defects","volume":"7","author":"Yang","year":"2020","journal-title":"Genes Dis"},{"issue":"12","key":"10.1016\/j.autrev.2025.103901_bb0495","doi-asserted-by":"crossref","first-page":"5516","DOI":"10.1172\/JCI79100","article-title":"Inherited STING-activating mutation underlies a familial inflammatory syndrome with lupus-like manifestations","volume":"124","author":"Jeremiah","year":"2014","journal-title":"J Clin Invest"},{"issue":"6","key":"10.1016\/j.autrev.2025.103901_bb0500","doi-asserted-by":"crossref","first-page":"507","DOI":"10.1056\/NEJMoa1312625","article-title":"Activated STING in a vascular and pulmonary syndrome","volume":"371","author":"Liu","year":"2014","journal-title":"N Engl J Med"},{"issue":"8","key":"10.1016\/j.autrev.2025.103901_bb0505","doi-asserted-by":"crossref","first-page":"899","DOI":"10.1038\/90935","article-title":"Autoimmune disease: why and where it occurs","volume":"7","author":"Marrack","year":"2001","journal-title":"Nat Med"},{"issue":"2","key":"10.1016\/j.autrev.2025.103901_bb0510","volume":"22","author":"Bieber","year":"2023","journal-title":"Autoimmune Pre-Disease Autoimmun Rev"},{"issue":"3","key":"10.1016\/j.autrev.2025.103901_bb0515","doi-asserted-by":"crossref","first-page":"712","DOI":"10.3390\/jcm9030712","article-title":"New horizons in the genetic etiology of systemic lupus erythematosus and lupus-like disease: monogenic lupus and beyond","volume":"9","author":"Demirkaya","year":"2020","journal-title":"J Clin Med"},{"issue":"11","key":"10.1016\/j.autrev.2025.103901_bb0520","doi-asserted-by":"crossref","DOI":"10.1016\/j.heliyon.2022.e11741","article-title":"Interferon in systemic lupus erythematosus-a halfway between monogenic autoinflammatory and autoimmune disease","volume":"8","author":"Saulescu","year":"2022","journal-title":"Heliyon"},{"issue":"12","key":"10.1016\/j.autrev.2025.103901_bb0525","doi-asserted-by":"crossref","first-page":"2527","DOI":"10.1084\/jem.20161596","article-title":"Type I interferon-mediated monogenic autoinflammation: the type I interferonopathies, a conceptual overview","volume":"213","author":"Rodero","year":"2016","journal-title":"J Exp Med"},{"issue":"4","key":"10.1016\/j.autrev.2025.103901_bb0530","doi-asserted-by":"crossref","first-page":"853","DOI":"10.1002\/art.37821","article-title":"Disease mechanisms in rheumatology--tools and pathways: plasmacytoid dendritic cells and their role in autoimmune rheumatic diseases","volume":"65","author":"Eloranta","year":"2013","journal-title":"Arthritis Rheum"},{"issue":"6","key":"10.1016\/j.autrev.2025.103901_bb0535","doi-asserted-by":"crossref","first-page":"654","DOI":"10.1038\/ng.3279","article-title":"COPA mutations impair ER-Golgi transport and cause hereditary autoimmune-mediated lung disease and arthritis","volume":"47","author":"Baylor-Hopkins Center for Mendelian Genomics","year":"2015","journal-title":"Nat Genet"},{"issue":"11","key":"10.1016\/j.autrev.2025.103901_bb0540","doi-asserted-by":"crossref","DOI":"10.1084\/jem.20200600","article-title":"Mutations in COPA lead to abnormal trafficking of STING to the Golgi and interferon signaling","volume":"217","author":"Lepelley","year":"2020","journal-title":"J Exp Med"},{"issue":"4","key":"10.1016\/j.autrev.2025.103901_bb0545","doi-asserted-by":"crossref","first-page":"296","DOI":"10.1097\/MPH.0000000000000212","article-title":"CANDLE syndrome: a recently described autoinflammatory syndrome","volume":"37","author":"T\u00fcfek\u00e7i","year":"2015","journal-title":"J Pediatr Hematol Oncol"},{"issue":"1","key":"10.1016\/j.autrev.2025.103901_bb0550","doi-asserted-by":"crossref","first-page":"75","DOI":"10.18176\/jiaci.0338","article-title":"Systemic autoimmunity in a patient with CANDLE syndrome","volume":"29","author":"Yamazaki-Nakashimada","year":"2019","journal-title":"J Investig Allergol Clin Immunol"},{"issue":"5","key":"10.1016\/j.autrev.2025.103901_bb0555","doi-asserted-by":"crossref","first-page":"1939","DOI":"10.1016\/j.jaci.2018.12.1012","article-title":"Novel proteasome assembly chaperone mutations in PSMG2\/PAC2 cause the autoinflammatory interferonopathy CANDLE\/PRAAS4","volume":"143","author":"De Jesus","year":"2019","journal-title":"J Allergy Clin Immunol"},{"issue":"7","key":"10.1016\/j.autrev.2025.103901_bb0560","doi-asserted-by":"crossref","first-page":"1937","DOI":"10.1084\/jem.20160724","article-title":"Human RELA haploinsufficiency results in autosomal-dominant chronic mucocutaneous ulceration","volume":"214","author":"Badran","year":"2017","journal-title":"J Exp Med"},{"issue":"9","key":"10.1016\/j.autrev.2025.103901_bb0565","doi-asserted-by":"crossref","DOI":"10.1084\/jem.20212276","article-title":"Human RELA dominant-negative mutations underlie type I interferonopathy with autoinflammation and autoimmunity","volume":"220","author":"Moriya","year":"2023","journal-title":"J Exp Med"},{"issue":"6","key":"10.1016\/j.autrev.2025.103901_bb0570","doi-asserted-by":"crossref","first-page":"1282","DOI":"10.1016\/j.jid.2023.12.007","article-title":"A20 Haploinsufficiency: a systematic review of 177 cases","volume":"144","author":"Elhani","year":"2024","journal-title":"J Invest Dermatol"},{"key":"10.1016\/j.autrev.2025.103901_bb0575","series-title":"GeneReviews\u00ae [internet]","article-title":"Adenosine deaminase 2 deficiency","author":"Aksentijevich","year":"1993"},{"issue":"4","key":"10.1016\/j.autrev.2025.103901_bb0580","doi-asserted-by":"crossref","first-page":"493","DOI":"10.3349\/ymj.2009.50.4.493","article-title":"Immunoglobulin VH chain gene analysis of peripheral blood IgM-producing B cells in patients with Kawasaki disease","volume":"50","author":"Lee","year":"2009","journal-title":"Yonsei Med J"},{"issue":"2","key":"10.1016\/j.autrev.2025.103901_bb0585","doi-asserted-by":"crossref","DOI":"10.26508\/lsa.202201700","article-title":"Inflammasome is a central player in B cell development and homing","volume":"6","author":"Hsu","year":"2023","journal-title":"Life Sci Alliance"},{"key":"10.1016\/j.autrev.2025.103901_bb0590","doi-asserted-by":"crossref","first-page":"1232820","DOI":"10.3389\/fimmu.2023.1232820","article-title":"B cell metabolism in autoimmune diseases: signaling pathways and interventions","volume":"14","author":"Li","year":"2023","journal-title":"Front Immunol"},{"issue":"1","key":"10.1016\/j.autrev.2025.103901_bb0595","doi-asserted-by":"crossref","first-page":"34","DOI":"10.1016\/j.clim.2012.10.005","article-title":"The role of B lymphocytes in the progression from autoimmunity to autoimmune disease","volume":"146","author":"Salinas","year":"2013","journal-title":"Clin Immunol Orlando Fla"},{"issue":"3","key":"10.1016\/j.autrev.2025.103901_bb0600","doi-asserted-by":"crossref","DOI":"10.1016\/j.berh.2024.101975","article-title":"Interferonopathies: from concept to clinical practice","volume":"38","author":"Mendon\u00e7a","year":"2024","journal-title":"Best Pract Res Clin Rheumatol"},{"key":"10.1016\/j.autrev.2025.103901_bb0605","doi-asserted-by":"crossref","DOI":"10.3389\/fimmu.2023.1127085","article-title":"Case report: novel variants in RELA associated with familial Behcet\u2019s-like disease","volume":"14","author":"An","year":"2023","journal-title":"Front Immunol"},{"key":"10.1016\/j.autrev.2025.103901_bb0610","article-title":"Case report and literature review: clinical manifestations and treatment of human RelA deficiency","volume":"16","author":"Wang","year":"2025","journal-title":"Front Immunol"},{"issue":"4","key":"10.1016\/j.autrev.2025.103901_bb0615","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":"21","key":"10.1016\/j.autrev.2025.103901_bb0620","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"},{"issue":"1","key":"10.1016\/j.autrev.2025.103901_bb0625","doi-asserted-by":"crossref","first-page":"3","DOI":"10.1159\/000509717","article-title":"When actin is not actin\u2019 like it should: a new category of distinct primary immunodeficiency disorders","volume":"13","author":"Sprenkeler","year":"2021","journal-title":"J Innate Immun"},{"issue":"4","key":"10.1016\/j.autrev.2025.103901_bb0630","doi-asserted-by":"crossref","first-page":"389","DOI":"10.1111\/imcb.12243","article-title":"Human inborn errors of the actin cytoskeleton affecting immunity: way beyond WAS and WIP","volume":"97","author":"Tangye","year":"2019","journal-title":"Immunol Cell Biol"},{"issue":"1","key":"10.1016\/j.autrev.2025.103901_bb0635","doi-asserted-by":"crossref","first-page":"20","DOI":"10.1006\/excr.1998.4300","article-title":"The rho GTPases have multiple effects on the actin cytoskeleton","volume":"246","author":"Aspenstr\u00f6m","year":"1999","journal-title":"Exp Cell Res"},{"key":"10.1016\/j.autrev.2025.103901_bb0640","doi-asserted-by":"crossref","DOI":"10.1016\/j.cellsig.2023.110855","article-title":"Navigating the landscape of rho GTPase signalling system in autoimmunity: a bibliometric analysis spanning over three decades (1990 to 2023)","volume":"111","author":"Chong","year":"2023","journal-title":"Cell Signal"},{"issue":"4","key":"10.1016\/j.autrev.2025.103901_bb0645","doi-asserted-by":"crossref","first-page":"330","DOI":"10.1056\/NEJMoa1102140","article-title":"Cold urticaria, immunodeficiency, and autoimmunity related to PLCG2 deletions","volume":"366","author":"Ombrello","year":"2012","journal-title":"N Engl J Med"},{"issue":"6","key":"10.1016\/j.autrev.2025.103901_bb0650","doi-asserted-by":"crossref","first-page":"527","DOI":"10.1007\/s10875-015-0177-x","article-title":"PLAID: a syndrome of complex patterns of disease and unique phenotypes","volume":"35","author":"Milner","year":"2015","journal-title":"J Clin Immunol"},{"issue":"4","key":"10.1016\/j.autrev.2025.103901_bb0655","doi-asserted-by":"crossref","first-page":"713","DOI":"10.1016\/j.ajhg.2012.08.006","article-title":"A hypermorphic missense mutation in PLCG2, encoding phospholipase C\u03b32, causes a dominantly inherited autoinflammatory disease with immunodeficiency","volume":"91","author":"Zhou","year":"2012","journal-title":"Am J Hum Genet"},{"issue":"10","key":"10.1016\/j.autrev.2025.103901_bb0660","doi-asserted-by":"crossref","first-page":"911","DOI":"10.1056\/NEJMoa1307361","article-title":"Early-onset stroke and vasculopathy associated with mutations in ADA2","volume":"370","author":"Zhou","year":"2014","journal-title":"N Engl J Med"},{"issue":"10","key":"10.1016\/j.autrev.2025.103901_bb0665","doi-asserted-by":"crossref","first-page":"921","DOI":"10.1056\/NEJMoa1307362","article-title":"Mutant adenosine deaminase 2 in a polyarteritis nodosa vasculopathy","volume":"370","author":"Navon Elkan","year":"2014","journal-title":"N Engl J Med"},{"issue":"3","key":"10.1016\/j.autrev.2025.103901_bb0670","doi-asserted-by":"crossref","first-page":"220","DOI":"10.1007\/s10875-016-0252-y","article-title":"Spondyloenchondrodysplasia due to mutations in ACP5: a comprehensive survey","volume":"36","author":"Briggs","year":"2016","journal-title":"J Clin Immunol"},{"issue":"6","key":"10.1016\/j.autrev.2025.103901_bb0675","doi-asserted-by":"crossref","first-page":"522","DOI":"10.1034\/j.1399-0004.2003.00033.x","article-title":"A novel syndrome of combined immunodeficiency, autoimmunity and spondylometaphyseal dysplasia","volume":"63","author":"Roifman","year":"2003","journal-title":"Clin Genet"},{"issue":"2","key":"10.1016\/j.autrev.2025.103901_bb0680","doi-asserted-by":"crossref","first-page":"639","DOI":"10.1016\/j.jaci.2021.03.010","article-title":"Successful treatment of a novel type I interferonopathy due to a de novo PSMB9 gene mutation with a Janus kinase inhibitor","volume":"148","author":"Kataoka","year":"2021","journal-title":"J Allergy Clin Immunol"},{"issue":"12","key":"10.1016\/j.autrev.2025.103901_bb0685","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":"4","key":"10.1016\/j.autrev.2025.103901_bb0690","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.2025.103901_bb0695","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"},{"issue":"6","key":"10.1016\/j.autrev.2025.103901_bb0700","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":"12","key":"10.1016\/j.autrev.2025.103901_bb0705","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"},{"issue":"22","key":"10.1016\/j.autrev.2025.103901_bb0710","first-page":"2713","article-title":"DOCK11 deficiency in patients with X-linked actinopathy and autoimmunity","volume":"141","author":"Boussard","year":"2023","journal-title":"Blood"},{"key":"10.1016\/j.autrev.2025.103901_bb0715","doi-asserted-by":"crossref","first-page":"A329","DOI":"10.1016\/j.revmed.2023.10.014","article-title":"L\u2019haploinsuffisance en SHARPIN est responsable d\u2019un d\u00e9ficit partiel en LUBAC, de manifestations inflammatoires, d\u2019une auto-immunit\u00e9 et d\u2019un d\u00e9faut de production d\u2019anticorps","volume":"44","author":"Sorin","year":"2023","journal-title":"Rev M\u00e9d Intern"},{"issue":"1","key":"10.1016\/j.autrev.2025.103901_bb0720","doi-asserted-by":"crossref","first-page":"67","DOI":"10.1038\/ng.3459","article-title":"Loss-of-function mutations in TNFAIP3 leading to A20 haploinsufficiency cause an early-onset autoinflammatory disease","volume":"48","author":"Zhou","year":"2016","journal-title":"Nat Genet"},{"issue":"5","key":"10.1016\/j.autrev.2025.103901_bb0725","doi-asserted-by":"crossref","first-page":"569","DOI":"10.1007\/s10875-018-0525-8","article-title":"Deficiency of adenosine deaminase 2 (DADA2): updates on the phenotype, genetics, pathogenesis, and treatment","volume":"38","author":"Meyts","year":"2018","journal-title":"J Clin Immunol"},{"issue":"4","key":"10.1016\/j.autrev.2025.103901_bb0730","doi-asserted-by":"crossref","first-page":"297","DOI":"10.1016\/j.revmed.2017.11.006","article-title":"Multiple facets of ADA2 deficiency: Vasculitis, auto-inflammatory disease and immunodeficiency: a literature review of 135 cases from literature","volume":"39","author":"Fayand","year":"2018","journal-title":"Rev Med Interne"},{"key":"10.1016\/j.autrev.2025.103901_bb0735","doi-asserted-by":"crossref","DOI":"10.3389\/fimmu.2022.935957","article-title":"Adenosine deaminase 2 deficiency (DADA2): a crosstalk between innate and adaptive immunity","volume":"13","author":"Signa","year":"2022","journal-title":"Front Immunol"},{"issue":"6","key":"10.1016\/j.autrev.2025.103901_bb0740","doi-asserted-by":"crossref","DOI":"10.1016\/j.waojou.2022.100657","article-title":"Allergic manifestations of inborn errors of immunity and their impact on the diagnosis: a worldwide study","volume":"15","author":"El-Sayed","year":"2022","journal-title":"World Allergy Organ J"},{"issue":"12","key":"10.1016\/j.autrev.2025.103901_bb0745","doi-asserted-by":"crossref","first-page":"6569","DOI":"10.4049\/jimmunol.1000674","article-title":"Cutting edge: lack of high affinity competition for peptide in polyclonal CD4+ responses unmasks IL-4 production","volume":"184","author":"Milner","year":"2010","journal-title":"J Immunol"},{"issue":"6","key":"10.1016\/j.autrev.2025.103901_bb0750","doi-asserted-by":"crossref","first-page":"788","DOI":"10.1136\/annrheumdis-2020-219137","article-title":"Systematic evaluation of nine monogenic autoinflammatory diseases reveals common and disease-specific correlations with allergy-associated features","volume":"80","author":"Schwartz","year":"2021","journal-title":"Ann Rheum Dis"}],"container-title":["Autoimmunity Reviews"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1568997225001624?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1568997225001624?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,11,21]],"date-time":"2025-11-21T23:52:47Z","timestamp":1763769167000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1568997225001624"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,11]]},"references-count":149,"journal-issue":{"issue":"11","published-print":{"date-parts":[[2025,11]]}},"alternative-id":["S1568997225001624"],"URL":"https:\/\/doi.org\/10.1016\/j.autrev.2025.103901","relation":{},"ISSN":["1568-9972"],"issn-type":[{"value":"1568-9972","type":"print"}],"subject":[],"published":{"date-parts":[[2025,11]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Systemic auto-inflammatory diseases, auto-immune diseases and immune deficiencies: From independent to overlapped diseases approach","name":"articletitle","label":"Article Title"},{"value":"Autoimmunity Reviews","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.autrev.2025.103901","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2025 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":"103901"}}