|OBO ID: DOID:0111961|
|Term Name:||immunodeficiency 26||Search Ontology:|
|Definition:||A severe combined immunodeficiency characterized by virtually absent peripheral B and T cells but normal numbers of NK cells, complete block in B-cell differentiation, and a defect in slow repair of DNA double-strand breaks in fibroblasts, that has_material_basis_in homozygous or compound heterozygous mutation in PRKDC on chromosome 8q11.21. (2)|
|Ontology:||Human Disease (DOID:0111961)|
|is a type of:||
OTHER immunodeficiency 26 PAGES
ZEBRAFISH MODELS No data available
PHENOTYPE No data available
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