Functional analysis of novel A20 variants in patients with atypical inflammatory diseases

Functional analysis of novel A20 variants in patients with atypical inflammatory diseases

Abstract Background A20 haploinsufficiency (HA20) is an early-onset autoinflammatory disease caused by mutations in the TNFAIP3 gene, which encodes the protein A20. Numerous truncating mutations in the TNFAIP3 gene have been reported in HA20 patients, whereas fewer missense variants have had their p...

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Bibliographic Details
Main Authors: Saori Kadowaki, Kunio Hashimoto, Toyoki Nishimura, Kenichi Kashimada, Tomonori Kadowaki, Norio Kawamoto, Kohsuke Imai, Satoshi Okada, Hirokazu Kanegane, Hidenori Ohnishi
Format: Article
Language:English
Published: BMC 2021-02-01
Series:Arthritis Research & Therapy
Subjects:
A20 haploinsufficiency
In vitro assay
Missense variant
TNFAIP3 gene
Variant classification
Online Access:https://doi.org/10.1186/s13075-021-02434-w

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