Article

How Rare is Rare? <i>TNFAIP3</i> Variants and the High Collective Burden of Haploinsufficiency

2026-04-29

Abstract excerpt

<h4>Background</h4> Monogenic diseases are considered rare, yet many remain underdiagnosed when clinical manifestations are heterogeneous. A20 haploinsufficiency (HA20) is an early-onset inborn error of immunity (IEI) caused by heterozygous germline TNFAIP3 variants, resulting in dysregulated inflammatory signaling and diverse immune phenotypes. <h4>Methods</h4> We analyzed variants in all human haploinsuffici...

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Literature Corpus work: 91761b99-871a-5f77-a97e-03dd4e2c2b63
DOI: 10.64898/2026.04.20.26350987

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