OBO ID: DOID:0111959 |
Term Name: | immunodeficiency 15B | Search Ontology: | |
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Definition: | A severe combined immunodeficiency characterized by onset in infancy of life-threatening bacterial, fungal, and viral infections, failure to thrive, impaired differentiation and activation of immune cells, and hypo- or agammaglobulinemia but relatively normal B and T cell numbers that has_material_basis_in homozygous or compound heterozygous mutation in the IKBKB gene on chromosome 8p11.21. https://pubmed.ncbi.nlm.nih.gov/24369075/ | ||
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Ontology: | Human Disease ( DOID:0111959 ) |
OTHER immunodeficiency 15B PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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