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

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 pathogeni...

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Bibliografiske detaljer
Udgivet i:Arthritis Res Ther
Main Authors: Kadowaki, Saori, Hashimoto, Kunio, Nishimura, Toyoki, Kashimada, Kenichi, Kadowaki, Tomonori, Kawamoto, Norio, Imai, Kohsuke, Okada, Satoshi, Kanegane, Hirokazu, Ohnishi, Hidenori
Format: Artigo
Sprog:Inglês
Udgivet: BioMed Central 2021
Fag:
Research Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC7866758/
https://ncbi.nlm.nih.gov/pubmed/33549127
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13075-021-02434-w
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