immunodeficiency 26

Term ID

DOID:0111961

Synonyms

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

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. (2)

References

• NCI:C176795
• OMIM:615966
• ORDO:317425
• UMLS_CUI:C4014833

Ontology

Human Disease   ( DOID:0111961 )