Haploinsufficiency of A20 causes autoinflammatory and autoimmune disorders

• Published in: Journal of allergy and clinical immunology Vol. 141; no. 4; pp. 1485 - 1488.e11
• Main Authors: Kadowaki, Tomonori, Ohnishi, Hidenori, Kawamoto, Norio, Hori, Tomohiro, Nishimura, Kenichi, Kobayashi, Chie, Shigemura, Tomonari, Ogata, Shohei, Inoue, Yuzaburo, Kawai, Tomoki, Hiejima, Eitaro, Takagi, Masatoshi, Imai, Kohsuke, Nishikomori, Ryuta, Ito, Shuichi, Heike, Toshio, Ohara, Osamu, Morio, Tomohiro, Fukao, Toshiyuki, Kanegane, Hirokazu
• Format: Journal Article
• Language: English
• Published: United States Elsevier Inc 01.04.2018; Elsevier Limited
• Subjects: Adolescent; Adult; Aged; Aging; Arthritis; Autoimmune diseases; Autoimmune Diseases - genetics; Autoimmune Diseases - immunology; Child; Child, Preschool; Cytokines; Female; Fever; Genotype & phenotype; Haploinsufficiency; Haploinsufficiency - genetics; Haploinsufficiency - immunology; Humans; Infant; Infant, Newborn; Inflammation; Inflammation - genetics; Inflammation - immunology; Lupus; Male; Mutation; Patients; Psoriasis; Tumor Necrosis Factor alpha-Induced Protein 3 - genetics; Tumor Necrosis Factor alpha-Induced Protein 3 - immunology; Tumor necrosis factor-TNF; Ulcers; Young Adult
• ISSN: 0091-6749; 1097-6825; 1097-6825
• DOI: 10.1016/j.jaci.2017.10.039

[...]the refractory cases in our cohort were treated with anti–TNF-α agents, and it successfully induced the remission. [...]our study demonstrated that HA20 showed unexpected variation in clinical manifestations. [...]he was identified as having a heterozygous c.2088+5G>C mutation in TNFAIP3 (Fig E2). At the age of 1 year, colonoscopy revealed the ulceration of rectum and colon. [...]he was diagnosed as having nonspecific inflammatory bowel disease and treated with mesalazine.