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| Term | immunodeficiency 56 | ID (Ontology) | DOID:0111982 (Human Disease) |
| 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. | ||
| Also Known As | "combined immunodeficiency due to IL21R deficiency" ; "IL21R immunodeficiency" ; "IMD56" | ||
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autosomal genetic disease |__autosomal recessive disease__________________ combined immunodeficiency | |__combined T cell and B cell immunodeficiency__| immunodeficiency 56 |
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| Is a |
autosomal recessive disease combined T cell and B cell immunodeficiency |
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MIM:615207 ORDO:357329 UMLS_CUI:C3554687 |
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