Combined Immunodeficiencies Associated with Syndromic Features

**Semantic type:** Disease or Syndrome

**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.

**Synonyms:** - Combined Cellular and Humoral Immunodeficiencies Associated with Syndromic Features - Immunodeficiencies Affecting Cellular and Humoral Immunity Associated with Syndromic Features