" /> Combined Immunodeficiencies Associated with Syndromic Features - CISMeF





Preferred Label : Combined Immunodeficiencies Associated with Syndromic Features;

NCIt synonyms : Combined Cellular and Humoral Immunodeficiencies Associated with Syndromic Features;

NCIt related terms : Immunodeficiencies Affecting Cellular and Humoral Immunity Associated with Syndromic Features;

NCIt definition : A group of genetic immunodeficiency syndromes with unique clinical features and well-characterized underlying immune defects, comprised of: CID with congenital thrombocytopenia; CID due to DNA repair defects other than forms of SCID in category I; CID due to thymic defects with additional congenital anomalies; CID with immunoosseous dysplasias; Hyper-IgE syndromes (HIES); CID due to defects of vitamin B12 and folate metabolism; Anhidrotic ectodermal dysplasia with immunodeficiency; CID due to calcium channel defects; and various other CID with unique clinical phenotypes.;

NCI Metathesaurus CUI : CL1642661;

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31/07/2025


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