Article

Environmental and genetic disease modifiers of haploinsufficiency of A20

2022-03-20

Abstract excerpt

<h4>ABSTRACT</h4> Monogenic diseases can often manifest diverse clinical phenotypes and cause diagnostic dilemmas. While monoallelic loss-of-function variants in TNFAIP3 (Haploinsufficiency of A20; HA20) cause a highly penetrant autoinflammatory disease, the variable expressivity suggest a role for additional genetic and environmental disease modifiers. Here, we identify critically ill children who inherited a f...

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Literature Corpus work: 3763263d-cf2c-51e2-abe1-9ead7cf9a282
DOI: 10.1101/2022.03.19.485004

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