" /> Immunodeficiency 32a - CISMeF





Preferred Label : Immunodeficiency 32a;

Symbol : IMD32A;

CISMeF acronym : IMD32A;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Immunodeficiency 32a, mycobacteriosis, autosomal dominant; Irf8 deficiency, autosomal dominant; Cd11c-positive/cd1c-positive dendritic cell deficiency, autosomal dominant;

Description : Autosomal dominant IRF8 deficiency causes an abnormal peripheral blood myeloid phenotype with a marked loss of CD11C (ITGAX; 151510)-positive/CD1C (188340) dendritic cells, resulting in selective susceptibility to mycobacterial infections (Hambleton et al., 2011).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the interferon regulatory factor 8 gene (IRF8, 601565.0002);

Prefixed ID : #614893;

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31/07/2025


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