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immunodeficiency 56
Summary
- Synonym
-
- IL21R immunodeficiency
- IMD56
- combined immunodeficiency due to IL21R deficiency
- 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.
- Super Class
- autosomal recessive disease combined T cell and B cell immunodeficiency
External Links
- Disease Ontology
- DOID:0111982
- Mondo Disease Ontology
- UMLS
- ORDO
- OMIM
