Version: 8.0.0
Date: Tue Jan 28 2025
immunodeficiency 26
DOID:0111961
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

immunodeficiency 26

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
  • immunodeficiency 26, with or without neurologic abnormalities
Cross References
Parent Terms
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