Search Ontology:
Human Disease
immunodeficiency 56
- Term ID
- DOID:0111982
- Synonyms
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- 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. https://pubmed.ncbi.nlm.nih.gov/23440042/
- References
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- MIM:615207
- ORDO:357329
- UMLS_CUI:C3554687
- Ontology
- Human Disease ( DOID:0111982 )
- is a type of
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Other Pages
Genes Involved
Zebrafish Models