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Article

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

Arthritis research & therapy - 6 Feb 2021

Kadowaki Saori, Hashimoto Kunio, Nishimura Toyoki, Kashimada Kenichi, Kadowaki Tomonori, Kawamoto Norio, Imai Kohsuke, Okada Satoshi, Kanegane Hirokazu, Ohnishi Hidenori

Abstract excerpt

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 pathogenicity confirmed. Here, we evaluated the pathogenic significance of three previously unreported missense variants of...

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Identifiers

PMID: 33549127
DOI: 10.1186/s13075-021-02434-w
PMCID: PMC7866758

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