Haploinsufficiency of A20 causes autoinflammatory and autoimmune disorders

[...]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 (Fi...

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Veröffentlicht in:	Journal of allergy and clinical immunology 2018-04, Vol.141 (4), p.1485-1488.e11
Hauptverfasser:	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:	Artikel
Sprache:	eng
Schlagworte:	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
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Zusammenfassung:	[...]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.
ISSN:	0091-6749 1097-6825
DOI:	10.1016/j.jaci.2017.10.039