OBO ID: DOID:0111957 |
Term Name: | immunodeficiency 11A | Search Ontology: | |
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Definition: | A severe combined immunodeficiency characterized by defective intracellular signaling in T and B cells, increased numbers of transitional B cells, hypogammaglobulinemia, decreased numbers of regulatory T cells and defects in T-cell function that has_material_basis_in homozygous or compound heterozygous mutation in the CARD11 gene on chromosome 7p22.2. (2) | ||
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Ontology: | Human Disease ( DOID:0111957 ) |
OTHER immunodeficiency 11A PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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