Article

Genotype and Phenotype of Adenosine Deaminase 2 Deficiency: The Experience From Saudi Arabia

2022-03-15

Abstract excerpt

<title>Abstract</title> <p><bold>Purpose</bold>DADA2 is a rare and potentially fatal systemic autoinflammatory disease characterized by reduced or absence of ADA2 enzyme activity resulting from mutations in the ADA2 gene. Symptoms of DADA2 are variable and include vasculitis, immune dysregulation, and cytopenia. Scattered Saudi cases of DADA2 have been reported. We describe clinical, molecular, and outcome charac...

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Literature Corpus work: 2168d560-7854-5e9a-805a-e1f8a12b294a
DOI: 10.21203/rs.3.rs-1409523/v1

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