Genotype and functional correlates of disease phenotype in deficiency of adenosine deaminase 2 (DADA2).

ABSTRACT:

Background

Deficiency of adenosine deaminase 2 (DADA2) is a syndrome with pleiotropic manifestations including vasculitis and hematologic compromise. A systematic definition of the relationship between adenosine deaminase 2 (ADA2) mutations and clinical phenotype remains unavailable.

Objective

We sought to test whether the impact of ADA2 mutations on enzyme function correlates with clinical presentation.

Methods

Patients with DADA2 with severe hematologic manifestations were compared with vasculitis-predominant patients. Enzymatic activity was assessed using expression constructs reflecting all 53 missense, nonsense, insertion, and deletion genotypes from 152 patients across the DADA2 spectrum.

Results

We identified patients with DADA2 presenting with pure red

SUBMITTER: Lee PY 

PROVIDER: S-EPMC7282972 | biostudies-literature | 2020 Jun

REPOSITORIES: biostudies-literature