Ethnic Genotype: Phenotype Correlation and Treatment of DADA2. A Single-center Cohort.

Abstract excerpt

BACKGROUND: Deficiency of adenosine deaminase 2 (DADA2) is a rare autosomal recessive disorder caused by loss-of-function mutations in the ADA2 gene, with a broad phenotype spanning systemic vasculitis, hematologic, immune deficiency, and autoinflammatory manifestations. OBJECTIVES: To describe a decade of DADA2 management within a uniquely diverse population. METHODS: We conducted a single-center retrospective...

Topics

• Humans
• Female
• Jews
• Retrospective Studies
• Male
• Phenotype
• Arabs