Article

Dominant negative<i>ADA2</i>mutations cause ADA2 deficiency in heterozygous carriers

2024-12-11

Abstract excerpt

Human ADA2 deficiency (DADA2) is an inborn error of immunity with a broad clinical phenotype which encompasses vasculopathy including livedo racemosa and lacunar strokes, as well as hemato-immunological features. Diagnosis is based on the combination of decreased serum ADA2 activity and the identification of biallelic deleterious alleles in the ADA2 gene. DADA2 carriers harbor a single pathogenic variant in ADA2 a...

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Literature Corpus work: a99145bb-5100-5556-a8c9-a84b138ffb85
DOI: 10.1101/2024.12.09.24317629

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