" /> Immunodeficiency 48 - CISMeF





Preferred Label : Immunodeficiency 48;

Symbol : IMD48;

CISMeF acronym : IMD48; STCD;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : STCD; Selective t-cell defect;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the zeta-chain-associated protein kinase 70 gene (ZAP70, 176947.0001);

Laboratory abnormalities : Panhypogammaglobulinemia; Defective (Ca2 ) mobilization in T cells;

Prefixed ID : #269840;

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30/07/2025


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