Article

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

2026-01-04

Abstract excerpt

<h4>ABSTRACT</h4> <h4>Background</h4> Haploinsufficiency 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. <h4>Methods</h4> A cross-sectional, retrospective analysis was conducted in HA20 patients with pathogenic or likely pathogenic TNFAIP3 variants...

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Literature Corpus work: f25737a4-dc86-52b8-aca8-186e9aa726d7
DOI: 10.64898/2026.01.01.25342105

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