immunodeficiency 56 (DOID:0111982)
Alliance: disease page
Synonyms: combined immunodeficiency due to IL21R deficiency; IL21R immunodeficiency; IMD56
Alt IDs: OMIM:615207, ORDO:357329, UMLS_CUI:C3554687
Definition: A combined T cell and B cell immunodeficiency characterized by B- and T-cell defects including defective class-switched B cells, low IgG, defective antibody response, and defective T-cell responses to certain antigens, and variable dysfunction of NK cells that has_material_basis_in homozygous or compound heterozygous mutation in the IL21R gene on chromosome 16p12.1.