{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,20]],"date-time":"2026-10-20T18:46:11Z","timestamp":1792521971674,"version":"4.5.0"},"reference-count":45,"publisher":"Elsevier BV","issue":"6","license":[{"start":{"date-parts":[[2026,6,1]],"date-time":"2026-06-01T00:00:00Z","timestamp":1780272000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2026,6,1]],"date-time":"2026-06-01T00:00:00Z","timestamp":1780272000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"funder":[{"DOI":"10.13039\/501100012151","name":"Sanming Project of Medicine in Shenzhen","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100012151","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100013290","name":"National Key Research and Development Program of China Stem Cell and Translational Research","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100013290","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100001245","name":"Jeffrey Modell Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100001245","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100004312","name":"Eli Lilly and Company","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100004312","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100006260","name":"Rheumatology Research Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100006260","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100012602","name":"Startup Foundation for Hundred-Talent Program of Zhejiang University","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100012602","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002858","name":"China Postdoctoral Science Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100002858","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100017054","name":"National Natural Science Foundation of China Zhejiang Joint Fund for the Integration of Industrialization and Informatization","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100017054","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"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":[[2026,6]]},"DOI":"10.1016\/j.jaci.2026.02.002","type":"journal-article","created":{"date-parts":[[2026,2,13]],"date-time":"2026-02-13T16:06:13Z","timestamp":1770998773000},"page":"1395-1410","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":5,"title":["Multicenter international cohort study of haploinsufficiency of A20 reveals novel genetic architecture and phenotypic evolution"],"prefix":"10.1016","volume":"157","author":[{"given":"Tingyan","family":"He","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jun","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Manuel","family":"Carpio Tumba","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shihao","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Youyou","family":"Luo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jie","family":"Chen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Guomin","family":"Li","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhou","family":"Shu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Song","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Deborah L.","family":"Stone","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yanyan","family":"Huang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Qianying","family":"Lv","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wen","family":"Xiong","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jinbo","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhongxun","family":"Yu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Charlotte Vera","family":"Cuff","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elizabeth","family":"Kairis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Akuti","family":"Kethri","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Atif","family":"Towheed","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kyr","family":"Goyette","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Urekha","family":"Karri","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jiebiao","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chen","family":"Liu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tina","family":"Romeo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laia","family":"Alsina","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniel L.","family":"Rosenberg","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniel","family":"Clemente","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Juan Carlos","family":"L\u00f3pez-Robledillo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zanhua","family":"Rong","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xue","family":"Zhao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lijun","family":"Jiang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Juan Carlos","family":"Aldave-Becerra","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ana Beatriz","family":"Mu\u00f1oz-Urribarri","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Prasad Thomas","family":"Oommen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Priscilla","family":"Campbell-Stokes","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Meifang","family":"Zhu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peng","family":"Liu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Li","family":"Guo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yiping","family":"Xu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zihua","family":"Yu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Huajuan","family":"Tong","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiaojian","family":"Qiu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yazhi","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hongbo","family":"Chen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Changming","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Junbin","family":"Ou","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Congcong","family":"Liu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jinxiang","family":"Liu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yunyan","family":"Shen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jianshe","family":"Cao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xinping","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kangkang","family":"Yang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ying","family":"Bao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhijuan","family":"Li","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jie","family":"Cao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuanhui","family":"Duan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fujuan","family":"Liu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Buyun","family":"Shi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Min","family":"Sun","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Li","family":"Ma","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yongxing","family":"Chen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wei","family":"Yang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xu","family":"Han","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shuangyue","family":"Ma","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jie","family":"Luo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Weiyue","family":"Gu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Guoliang","family":"Yu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Weina","family":"Shi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ruiqin","family":"Zhao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lei","family":"Sun","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wenhui","family":"Li","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yunfei","family":"An","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xuemei","family":"Tang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiaodong","family":"Zhao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tongxin","family":"Han","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jing","family":"Ma","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yan","family":"Li","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yurong","family":"Piao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fei","family":"Sun","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dongfeng","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Meina","family":"Yin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shaoling","family":"Zheng","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tianwang","family":"Li","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Huizhong","family":"Niu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Li","family":"Lin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shiyue","family":"Mei","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fang","family":"Zhou","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sirui","family":"Yang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Danlu","family":"Li","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mei","family":"Yan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Huasong","family":"Zeng","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ping","family":"Zeng","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wenjie","family":"Zheng","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiaozhong","family":"Li","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiaolin","family":"Li","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuling","family":"Liu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lijuan","family":"Huang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Haiguo","family":"Yu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhidan","family":"Fan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Min","family":"Shen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Meiping","family":"Lu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhihao","family":"Fang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Casey Allison","family":"Rimland","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hongmei","family":"Song","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lance W.","family":"Peterson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maryam Ali","family":"Yousuf Al-Nesf","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sami","family":"Aqel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dalal Sideeg","family":"Mudawi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nikita","family":"Raje","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Voytek","family":"Slowik","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julia G.","family":"Harris","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Brenda","family":"Snyder","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Selma","family":"Scheffler-Mendoza","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marco Antonio","family":"Yamazaki-Nakashimada","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Megan A.","family":"Cooper","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yu Lung","family":"Lau","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kader","family":"Cetin Gedik","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wenjie","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wenjing","family":"Ying","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jia","family":"Hou","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Qinhua","family":"Zhou","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bijun","family":"Sun","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jinqiao","family":"Sun","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiaochuan","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amanda K.","family":"Ombrello","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ying","family":"Huang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hai-Lin","family":"Wu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Li","family":"Sun","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Huawei","family":"Mao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiaomin","family":"Yu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhihong","family":"Liu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ivona","family":"Aksentijevich","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniel L.","family":"Kastner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniella M.","family":"Schwartz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jun","family":"Yang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Qing","family":"Zhou","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.jaci.2026.02.002_bib1","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"},{"key":"10.1016\/j.jaci.2026.02.002_bib2","doi-asserted-by":"crossref","first-page":"574992","DOI":"10.3389\/fimmu.2020.574992","article-title":"Association of clinical phenotypes in haploinsufficiency A20 (HA20) with disrupted domains of A20","volume":"11","author":"Chen","year":"2020","journal-title":"Front Immunol"},{"key":"10.1016\/j.jaci.2026.02.002_bib3","doi-asserted-by":"crossref","first-page":"575","DOI":"10.1007\/s12519-019-00288-6","article-title":"Haploinsufficiency of A20 (HA20): updates on the genetics, phenotype, pathogenesis and treatment","volume":"16","author":"Yu","year":"2020","journal-title":"World J Pediatr"},{"key":"10.1016\/j.jaci.2026.02.002_bib4","doi-asserted-by":"crossref","first-page":"76","DOI":"10.1007\/s10875-024-01681-1","article-title":"The complexity of being A20: from biological functions to genetic associations","volume":"44","author":"Karri","year":"2024","journal-title":"J Clin Immunol"},{"key":"10.1016\/j.jaci.2026.02.002_bib5","doi-asserted-by":"crossref","first-page":"124","DOI":"10.1186\/s12881-019-0856-1","article-title":"Expanding the spectrum of A20 haploinsufficiency in two Chinese families: cases report","volume":"20","author":"Li","year":"2019","journal-title":"BMC Med Genet"},{"key":"10.1016\/j.jaci.2026.02.002_bib6","doi-asserted-by":"crossref","first-page":"82","DOI":"10.3345\/cep.2022.00500","article-title":"Haploinsufficiency A20 misdiagnosed as PFAPA (periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis) syndrome with Kikuchi disease","volume":"66","author":"Jo","year":"2023","journal-title":"Clin Exp Pediatr"},{"key":"10.1016\/j.jaci.2026.02.002_bib7","doi-asserted-by":"crossref","first-page":"1527","DOI":"10.3389\/fimmu.2018.01527","article-title":"A Case of adult-onset Still\u2019s disease caused by a novel splicing mutation in TNFAIP3 successfully treated with tocilizumab","volume":"9","author":"Lawless","year":"2018","journal-title":"Front Immunol"},{"key":"10.1016\/j.jaci.2026.02.002_bib8","doi-asserted-by":"crossref","first-page":"1894","DOI":"10.1111\/liv.14935","article-title":"Chronic hepatic involvement in the clinical spectrum of A20 haploinsufficiency","volume":"41","author":"Deshayes","year":"2021","journal-title":"Liver Int"},{"key":"10.1016\/j.jaci.2026.02.002_bib9","doi-asserted-by":"crossref","first-page":"1914","DOI":"10.1016\/j.jaci.2016.09.038","article-title":"Haploinsufficiency of TNFAIP3 (A20) by germline mutation is involved in autoimmune lymphoproliferative syndrome","volume":"139","author":"Takagi","year":"2017","journal-title":"J Allergy Clin Immunol"},{"key":"10.1016\/j.jaci.2026.02.002_bib10","doi-asserted-by":"crossref","first-page":"91","DOI":"10.1297\/cpe.28.91","article-title":"Autosomal dominant Hashimoto\u2019s thyroiditis with a mutation in TNFAIP3","volume":"28","author":"Hori","year":"2019","journal-title":"Clin Pediatr Endocrinol"},{"key":"10.1016\/j.jaci.2026.02.002_bib11","doi-asserted-by":"crossref","DOI":"10.3389\/fendo.2023.1131437","article-title":"Case Report: a novel mutation in TNFAIP3 in a patient with type 1 diabetes mellitus and haploinsufficiency of A20","volume":"14","author":"Cao","year":"2023","journal-title":"Front Endocrinol"},{"key":"10.1016\/j.jaci.2026.02.002_bib12","doi-asserted-by":"crossref","first-page":"780689","DOI":"10.3389\/fimmu.2021.780689","article-title":"A20 haploinsufficiency in East Asia","volume":"12","author":"Kadowaki","year":"2021","journal-title":"Front Immunol"},{"key":"10.1016\/j.jaci.2026.02.002_bib13","doi-asserted-by":"crossref","first-page":"728","DOI":"10.1136\/annrheumdis-2017-212403","article-title":"A20 haploinsufficiency (HA20): clinical phenotypes and disease course of patients with a newly recognised NF-\u03baB\u2013mediated autoinflammatory disease","volume":"77","author":"Aeschlimann","year":"2018","journal-title":"Ann Rheum Dis"},{"key":"10.1016\/j.jaci.2026.02.002_bib14","doi-asserted-by":"crossref","first-page":"2027","DOI":"10.1093\/ckj\/sfac130","article-title":"Novel loss-of-function mutations in TNFAIP3 gene in patients with lupus nephritis","volume":"15","author":"Zhang","year":"2022","journal-title":"Clin Kidney J"},{"key":"10.1016\/j.jaci.2026.02.002_bib15","doi-asserted-by":"crossref","first-page":"1420","DOI":"10.1007\/s10875-021-01048-w","article-title":"Complicated diagnosis and treatment of HA20 due to contiguous gene deletions involving 6q23.3","volume":"41","author":"Wu","year":"2021","journal-title":"J Clin Immunol"},{"key":"10.1016\/j.jaci.2026.02.002_bib16","doi-asserted-by":"crossref","first-page":"731","DOI":"10.1038\/s41556-019-0324-3","article-title":"A20 prevents inflammasome-dependent arthritis by inhibiting macrophage necroptosis through its ZnF7 ubiquitin-binding domain","volume":"21","author":"Polykratis","year":"2019","journal-title":"Nat Cell Biol"},{"key":"10.1016\/j.jaci.2026.02.002_bib17","doi-asserted-by":"crossref","first-page":"422","DOI":"10.1038\/s41590-020-0634-4","article-title":"Non-catalytic ubiquitin binding by A20 prevents psoriatic arthritis\u2013like disease and inflammation","volume":"21","author":"Razani","year":"2020","journal-title":"Nat Immunol"},{"key":"10.1016\/j.jaci.2026.02.002_bib18","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.jaci.2026.02.002_bib19","doi-asserted-by":"crossref","first-page":"1485","DOI":"10.1016\/j.jaci.2017.10.039","article-title":"Haploinsufficiency of A20 causes autoinflammatory and autoimmune disorders","volume":"141","author":"Kadowaki","year":"2018","journal-title":"J Allergy Clin Immunol"},{"key":"10.1016\/j.jaci.2026.02.002_bib20","series-title":"GeneReviews. Seattle (Wash)","article-title":"Haploinsufficiency of A20","author":"Deuitch","year":"2024"},{"key":"10.1016\/j.jaci.2026.02.002_bib21","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1038\/gim.2015.30","article-title":"Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology","volume":"17","author":"Richards","year":"2015","journal-title":"Genet Med"},{"key":"10.1016\/j.jaci.2026.02.002_bib22","doi-asserted-by":"crossref","first-page":"338","DOI":"10.1111\/jdv.12107","article-title":"The International Criteria for Beh\u00e7et\u2019s Disease (ICBD): a collaborative study of 27 countries on the sensitivity and specificity of the new criteria","volume":"28","author":"Davatchi","year":"2014","journal-title":"J Eur Acad Dermatol Venerol"},{"key":"10.1016\/j.jaci.2026.02.002_bib23","first-page":"390","article-title":"International League of Associations for Rheumatology classification of juvenile idiopathic arthritis: second revision, Edmonton, 2001","volume":"31","author":"Petty","year":"2004","journal-title":"J Rheumatol"},{"key":"10.1016\/j.jaci.2026.02.002_bib24","doi-asserted-by":"crossref","first-page":"190","DOI":"10.3899\/jrheum.180168","article-title":"Toward new classification criteria for juvenile idiopathic arthritis: first steps, Pediatr Rheumatol International Trials Organization International Consensus","volume":"46","author":"Martini","year":"2019","journal-title":"J Rheumatol"},{"key":"10.1016\/j.jaci.2026.02.002_bib25","doi-asserted-by":"crossref","first-page":"1725","DOI":"10.1002\/art.1780400928","article-title":"Updating the American College of Rheumatology revised criteria for the classification of systemic lupus erythematosus","volume":"40","author":"Hochberg","year":"1997","journal-title":"Arthritis Rheum"},{"key":"10.1016\/j.jaci.2026.02.002_bib26","doi-asserted-by":"crossref","first-page":"2677","DOI":"10.1002\/art.34473","article-title":"Derivation and validation of the Systemic Lupus International Collaborating Clinics classification criteria for systemic lupus erythematosus","volume":"64","author":"Petri","year":"2012","journal-title":"Arthritis Rheum"},{"key":"10.1016\/j.jaci.2026.02.002_bib27","first-page":"440","article-title":"Performance of the new SLICC classification criteria in childhood systemic lupus erythematosus: a multicentre study","volume":"32","author":"Sag","year":"2014","journal-title":"Clin Exp Rheumatol"},{"key":"10.1016\/j.jaci.2026.02.002_bib28","doi-asserted-by":"crossref","first-page":"31","DOI":"10.1186\/s12969-020-00424-x","article-title":"Consensus treatment plans for periodic fever, aphthous stomatitis, pharyngitis and adenitis syndrome (PFAPA): a framework to evaluate treatment responses from the Childhood Arthritis and Rheumatology Research Alliance (CARRA) PFAPA work group","volume":"18","author":"Amarilyo","year":"2020","journal-title":"Pediatr Rheumatol Online J"},{"key":"10.1016\/j.jaci.2026.02.002_bib29","doi-asserted-by":"crossref","first-page":"1614","DOI":"10.1136\/ard-2024-225851","article-title":"EULAR\/PReS recommendations for the diagnosis and management of Still\u2019s disease, comprising systemic juvenile idiopathic arthritis and adult-onset Still\u2019s disease","volume":"83","author":"Fautrel","year":"2024","journal-title":"Ann Rheum Dis"},{"key":"10.1016\/j.jaci.2026.02.002_bib30","doi-asserted-by":"crossref","first-page":"22","DOI":"10.1016\/j.it.2013.10.005","article-title":"A20 in inflammation and autoimmunity","volume":"35","author":"Catrysse","year":"2014","journal-title":"Trends Immunol"},{"key":"10.1016\/j.jaci.2026.02.002_bib31","doi-asserted-by":"crossref","DOI":"10.1073\/pnas.2316551121","article-title":"Inhibition of NLRP3 inflammasome activation by A20 through modulation of NEK7","volume":"121","author":"Yu","year":"2024","journal-title":"Proc Natl Acad Sci U S A"},{"key":"10.1016\/j.jaci.2026.02.002_bib32","doi-asserted-by":"crossref","first-page":"69","DOI":"10.1038\/nature13322","article-title":"Negative regulation of the NLRP3 inflammasome by A20 protects against arthritis","volume":"512","author":"Vande Walle","year":"2014","journal-title":"Nature"},{"key":"10.1016\/j.jaci.2026.02.002_bib33","doi-asserted-by":"crossref","first-page":"8217","DOI":"10.1074\/jbc.R800032200","article-title":"A20: central gatekeeper in inflammation and immunity","volume":"284","author":"Coornaert","year":"2009","journal-title":"J Biol Chem"},{"key":"10.1016\/j.jaci.2026.02.002_bib34","doi-asserted-by":"crossref","first-page":"2227","DOI":"10.1182\/blood-2010-09-306019","article-title":"B cells lacking the tumor suppressor TNFAIP3\/A20 display impaired differentiation and hyperactivation and cause inflammation and autoimmunity in aged mice","volume":"117","author":"Chu","year":"2011","journal-title":"Blood"},{"key":"10.1016\/j.jaci.2026.02.002_bib35","doi-asserted-by":"crossref","DOI":"10.1126\/sciadv.adl3975","article-title":"A20 haploinsufficiency disturbs immune homeostasis and drives the transformation of lymphocytes with permissive antigen receptors","volume":"10","author":"Schulthei\u00df","year":"2024","journal-title":"Sci Adv"},{"key":"10.1016\/j.jaci.2026.02.002_bib36","doi-asserted-by":"crossref","first-page":"429","DOI":"10.1136\/annrheumdis-2019-215918","article-title":"Type I interferon signature predicts response to JAK inhibition in haploinsufficiency of A20","volume":"79","author":"Schwartz","year":"2020","journal-title":"Ann Rheum Dis"},{"key":"10.1016\/j.jaci.2026.02.002_bib37","doi-asserted-by":"crossref","first-page":"4068","DOI":"10.1182\/blood-2013-05-503383","article-title":"Germline and somatic genetic variations of TNFAIP3 in lymphoma complicating primary Sj\u00f6gren\u2019s syndrome","volume":"122","author":"Nocturne","year":"2013","journal-title":"Blood"},{"key":"10.1016\/j.jaci.2026.02.002_bib38","first-page":"313","article-title":"Frequent inactivation of A20 through gene mutation in B-cell lymphomas","volume":"52","author":"Kato","year":"2011","journal-title":"Rinsho Ketsueki"},{"key":"10.1016\/j.jaci.2026.02.002_bib39","doi-asserted-by":"crossref","first-page":"26","DOI":"10.1016\/j.canlet.2021.04.017","article-title":"The dual roles of A20 in cancer","volume":"511","author":"Shi","year":"2021","journal-title":"Cancer Lett"},{"key":"10.1016\/j.jaci.2026.02.002_bib40","doi-asserted-by":"crossref","first-page":"8275","DOI":"10.3390\/ijms25158275","article-title":"Genetic mutations associated with TNFAIP3 (A20) haploinsufficiency and their impact on inflammatory diseases","volume":"25","author":"Bagyinszky","year":"2024","journal-title":"Int J Mol Sci"},{"key":"10.1016\/j.jaci.2026.02.002_bib41","doi-asserted-by":"crossref","first-page":"44","DOI":"10.1016\/j.clim.2018.03.009","article-title":"TNFAIP3 haploinsufficiency is the cause of autoinflammatory manifestations in a patient with a deletion of 13 Mb on chromosome 6","volume":"191","author":"Franco-Jarava","year":"2018","journal-title":"Clin Immunol"},{"key":"10.1016\/j.jaci.2026.02.002_bib42","doi-asserted-by":"crossref","DOI":"10.1002\/jgc4.70079","article-title":"The attitudes of individuals with or at risk of adult-onset genetic conditions on reproductive genetic testing: a systematic review","volume":"34","author":"Allen","year":"2025","journal-title":"J Genet Couns"},{"key":"10.1016\/j.jaci.2026.02.002_bib43","doi-asserted-by":"crossref","first-page":"177","DOI":"10.3390\/ijerph22010117","article-title":"\u201cLack\u201d and \u201cfinally\u201d: a qualitative analysis of barriers and facilitators in rare disease healthcare","volume":"22","author":"Hemmesch","year":"2025","journal-title":"Int J Environ Res Public Health"},{"key":"10.1016\/j.jaci.2026.02.002_bib44","doi-asserted-by":"crossref","first-page":"863","DOI":"10.1016\/j.jaci.2019.05.026","article-title":"Janus kinase 1\/2 inhibition for the treatment of autoinflammation associated with heterozygous TNFAIP3 mutation","volume":"144","author":"Mulhern","year":"2019","journal-title":"J Allergy Clin Immunol"},{"key":"10.1016\/j.jaci.2026.02.002_bib45","doi-asserted-by":"crossref","first-page":"585","DOI":"10.1038\/s41584-024-01145-1","article-title":"The past 25 years in paediatric rheumatology: insights from monogenic diseases","volume":"20","author":"Ozen","year":"2024","journal-title":"Nat Rev Rheumatol"}],"container-title":["Journal of Allergy and Clinical Immunology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0091674926000837?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0091674926000837?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2026,6,4]],"date-time":"2026-06-04T09:56:01Z","timestamp":1780566961000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0091674926000837"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,6]]},"references-count":45,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2026,6]]}},"alternative-id":["S0091674926000837"],"URL":"https:\/\/doi.org\/10.1016\/j.jaci.2026.02.002","relation":{},"ISSN":["0091-6749"],"issn-type":[{"value":"0091-6749","type":"print"}],"subject":[],"published":{"date-parts":[[2026,6]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Multicenter international cohort study of haploinsufficiency of A20 reveals novel genetic architecture and phenotypic evolution","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.2026.02.002","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2026 American Academy of Allergy, Asthma & Immunology","name":"copyright","label":"Copyright"}]}}