Haploinsufficiency of A20 caused by a novel nonsense variant or entire deletion of TNFAIP3 is clinically distinct from Behçet’s disease

Haploinsufficiency of A20 caused by a novel nonsense variant or entire deletion of TNFAIP3 is clinically distinct from Behçet’s disease

Abstract Background Haploinsufficiency of A20 (HA20) is caused by loss-of-function TNFAIP3 variants. Phenotypic and genetic features of HA20 remain uncertain; therefore, the clinical distinction between HA20 and Behçet’s disease (BD) requires clarification. Methods We have collected 12 Japanese BD-l...

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Bibliographic Details
Main Authors: Naomi Tsuchida, Yohei Kirino, Yutaro Soejima, Masafumi Onodera, Katsuhiro Arai, Eiichiro Tamura, Takashi Ishikawa, Toshinao Kawai, Toru Uchiyama, Shigeru Nomura, Daisuke Kobayashi, Masataka Taguri, Satomi Mitsuhashi, Takeshi Mizuguchi, Atsushi Takata, Noriko Miyake, Hideaki Nakajima, Satoko Miyatake, Naomichi Matsumoto
Format: Article
Language:English
Published: BMC 2019-06-01
Series:Arthritis Research & Therapy
Subjects:
TNFAIP3
Haploinsufficiency of A20
Behçet’s disease
Whole exome sequencing
Autoinflammatory
Online Access:http://link.springer.com/article/10.1186/s13075-019-1928-5

Internet

http://link.springer.com/article/10.1186/s13075-019-1928-5

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