OBO ID: DOID:0111951 |
Term Name: | immunodeficiency 40 | Search Ontology: | |
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Definition: | A combined T cell and B cell immunodeficiency characterized by reduced T-cell number and function, with variable defects in B-cell and NK-cell function resulting in onset in early childhood of invasive bacterial and viral infections that has_material_basis_in homozygous or compound heterozygous mutation in the DOCK2 gene on chromosome 5q35.1. https://pubmed.ncbi.nlm.nih.gov/26083206/ | ||
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Ontology: | Human Disease ( DOID:0111951 ) |
OTHER immunodeficiency 40 PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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