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Article

Case Report: A novel mutation in TNFAIP3 in a patient with type 1 diabetes mellitus and haploinsufficiency of A20.

Frontiers in endocrinology - 1 Jan 2023

Cao Conghui, Fu Xue, Wang Xiaoli

Abstract excerpt

Background: Haploinsufficiency of A20 (HA20) is a monogenic autosomal-dominant genetic autoinflammatory disease caused by loss of function mutations in the TNFAIP3 gene. The predominant autoimmune phenotype associated with HA20 varies significantly, presenting with fever, recurrent oral and genital ulcers, skin rash, gastrointestinal and musculoskeletal symptoms, and other clinical manifestations, all of which...

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Identifiers

PMID: 37324276
DOI: 10.3389/fendo.2023.1131437
PMCID: PMC10266219

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Case Report: A novel mutation in TNFAIP3 in a patient with type 1 diabetes mellitus and haploinsufficiency of A20.PMID 37324276Read ↗

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Multicenter international cohort study of HA20 reveals novel genetic architecture and phenotypic evolutionSemantic proximity Read ↗

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