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Article

Haploinsufficiency of A20 and other paediatric inflammatory disorders with mucosal involvement.

Current opinion in rheumatology - 1 Sept 2018

Aeschlimann Florence A, Laxer Ronald M

Abstract excerpt

PURPOSE OF REVIEW: This review aims at summarizing the current knowledge of A20 haploinsufficiency and other paediatric inflammatory disorders with mucosal involvement. RECENT FINDINGS: A20 haploinsufficiency is a newly described autoinflammatory disease caused by loss-of-function mutations in TNFAIP3 that result in the activation of the nuclear factor (NF)-kB pathway. Patients may present with dominantly...

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Source

Identifiers

PMID: 29916847
DOI: 10.1097/BOR.0000000000000532

Genes

TNFAIP3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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