OBO ID: DOID:0111997 |
Term Name: | immunodeficiency 63 | Search Ontology: | |
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Definition: | A T cell and NK cell immunodeficiency characterized by increased numbers but impaired differentiation of NK cells, T cell abnormalities, recurrent infections, and abnormal immune pathway activation resulting in lymphoid proliferation, dermatitis, enteropathy, and hypergammaglobulinemia that has_material_basis_in homozygous or compound heterozygous mutation in the IL2RB gene on chromosome 22q12.3. (2) | ||
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Ontology: | Human Disease ( DOID:0111997 ) |
OTHER immunodeficiency 63 PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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