OBO ID: DOID:0111982 |
Term Name: | immunodeficiency 56 | Search Ontology: | |
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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/ | ||
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Ontology: | Human Disease ( DOID:0111982 ) |
OTHER immunodeficiency 56 PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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