Deficiency of Adenosine Deaminase 2 in Adults and Children: Experience From India.

ABSTRACT:

Objective

Deficiency of adenosine deaminase 2 (DADA2) is a potentially fatal monogenic syndrome characterized by variable manifestations of systemic vasculitis, bone marrow failure, and immunodeficiency. Most cases are diagnosed by pediatric care providers, given the typical early age of disease onset. This study was undertaken to describe the clinical phenotypes and treatment response both in adults and in children with DADA2 in India.

Methods

A retrospective analysis of pediatric and adult patients with DADA2 diagnosed at various rheumatology centers across India was conducted. Clinical characteristics, diagnostic findings, and treatment responses were analyzed in all subjects.

Results

In total, 33 cases of DADA2 were confirmed in this cohort between April 2017 and

SUBMITTER: Sharma A 

PROVIDER: S-EPMC7902299 | biostudies-literature | 2021 Feb

REPOSITORIES: biostudies-literature