Familial Reticular Dysgenesis Due to Adenylate Cyclase 2 (AK2) Deficiency: Insights from a Three-Sibling Case Series
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Reticular dysgenesis (RD) is a rare, severe form of severe combined immunodeficiency (SCID) caused by biallelic AK2 mutations, leading to profound defects in lymphoid and myeloid maturation. Unlike other SCID phenotypes,...
LCC LCC:Immunologic diseases. AllergyIdioma eng
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