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Multicenter international cohort study of HA20 reveals novel genetic architecture and phenotypic evolution

2026-01-04 rheumatology Title + abstract only
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BackgroundHaploinsufficiency of A20 (HA20) is an immune dysregulation disorder caused by loss-of-function TNFAIP3 mutations. This international multicenter study aimed to delineate its clinical spectrum, genetic basis, and natural history. MethodsA cross-sectional, retrospective analysis was conducted in HA20 patients with pathogenic or likely pathogenic TNFAIP3 variants. Clinical, laboratory and treatment data were assessed. Clustering analysis was applied to evaluate clinical features and dis...

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