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Genotype and Phenotype of Adenosine Deaminase 2 Deficiency: a Report from Saudi Arabia
AbstractAdenosine deaminase 2 deficiency (DADA2), a rare and potentially fatal systemic autoinflammatory disease, is characterized by low or lack of ADA2 activity due toADA2 mutations. DADA2 symptoms are variable and include vasculitis, immunodeficiency, and cytopenia. Minimal data are available from Saudi Arabia. This retrospective study conducted at seven major tertiary medical centers examined the phenotypic and genotypic variabilities, clinical and diagnostic findings, and treatment outcomes among 20 Saudi patients with DADA2 from 14 families. The median age of the study cohort was 9.5  years (4–26 years). The clin...
Source: Journal of Clinical Immunology - October 14, 2022 Category: Allergy & Immunology Source Type: research

Deficiency of Human Adenosine Deaminase Type 2 – A Diagnostic Conundrum for the Hematologist
Deficiency of adenosine deaminase type 2 (DADA2) was first described in 2014 as a monogenic cause of polyartertitis nodosa (PAN), early onset lacunar stroke and livedo reticularis. The clinical phenotype of DADA2 is, however, very broad and may involve several organ systems. Apart from vasculitis, children may present with i) Hematological manifestations (ii) Lymphoproliferation and iii) Immunodeficiencies. Patients with DADA2 can have variable patterns of cytopenias and bone marrow failure syndromes. Patients with DADA2 who have predominant haematological manifestations are associated with ADA2 gene variants that result i...
Source: Frontiers in Immunology - May 3, 2022 Category: Allergy & Immunology Source Type: research