Term Name: | immunodeficiency 56 |
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Synonyms: | combined immunodeficiency due to IL21R deficiency, IL21R immunodeficiency, IMD56 |
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. |
Ontology: | Human Disease [DOID:0111982] ( DOID:0111982 ) |