Abstract Deficiency of ADA2 (DADA2) is the first molecularly described monogenic vasculitis
syndrome. DADA2 is caused by biallelic hypomorphic mutations in the ADA2 gene that …

Aplastic Anemia | New England Journal of Medicine Skip to main content The New England
Journal of Medicine homepage Advanced Search SEARCH The New England Journal of …

Background Deficiency of adenosine deaminase 2 (DADA2) is a syndrome with pleiotropic
manifestations including vasculitis and hematologic compromise. A systematic definition of …

Reduction of adenosine deaminase 2 (ADA2) activity due to autosomal-recessive loss-of-
function mutations in the ADA2 gene (previously known as CECR1) results in a systemic …

Deficiency of adenosine deaminase 2 (DADA2) is a monogenic disease caused by biallelic
mutations in ADA2 gene (previously CECR1). The aim of this review was to describe the …

Abstract Purpose of Review We aim to describe the pathophysiology, clinical findings,
diagnosis, and treatment of deficiency of adenosine deaminase 2 (DADA2). Recent Findings …

Objective. Deficiency of adenosine deaminase 2 (DADA2) is an autosomal recessive
autoinflammatory disorder associated with ADA2 mutations. We aimed to investigate the …

Background Deficiency of adenosine deaminase 2 (DADA2) is an autoinflammatory disease
caused by deleterious ADA2 variants. The frequency of these variants in the general …

Aplastic anaemia is a rare, previously fatal condition with a significantly improved survival
rate owing to advances in understanding of the pathophysiology and improved treatment …

Human adenosine deaminase 1 deficiency was described in the 1970s to cause severe
combined immunodeficiency. The residual adenosine deaminase activity in these patients …