immunodeficiency 26

Summary

DOID:0111961 - immunodeficiency 26

Disease 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 the PRKDC gene on chromosome 8q11.21.

Synonyms: IMD26, SCID due to DNA-PKcs deficiency, immunodeficiency 26, with or without neurologic abnormalities, severe combined immunodeficiency due to DNA-PKcs deficiency,

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: prkdc

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal recessive disease (is_a), severe combined immunodeficiency (is_a)