" /> Reticular dysgenesis - CISMeF





Preferred Label : Reticular dysgenesis;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Severe combined immunodeficiency with leukopenia; Congenital aleukia; ALEUKOCYTOSIS; De vaal disease; Hematopoietic hypoplasia, generalized; Reticular dysgenesia;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the adenylate kinase-2 gene (AK2, 103020.0001);

Prefixed ID : #267500;

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27/07/2025


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