FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term immunodeficiency 26 ID (Ontology) DOID:0111961 (Human Disease)
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.
Also Known As "IMD26" ; "immunodeficiency 26, with or without neurologic abnormalities" ; "SCID due to DNA-PKcs deficiency" (for all, see Synonyms field below)
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 Genes
 immunodeficiency 26       1
 for disease ribbon | immunodeficiency 26       1
 model of | immunodeficiency 26       1
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease_______
combined immunodeficiency             |
 |__severe combined immunodeficiency__|
                                      immunodeficiency 26  1 rec.
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Is a autosomal recessive disease
severe combined immunodeficiency
Part of
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Synonyms
  • "IMD26" EXACT OMO:0003012
    "immunodeficiency 26, with or without neurologic abnormalities" EXACT
    "SCID due to DNA-PKcs deficiency" EXACT
    "severe combined immunodeficiency due to DNA-PKcs deficiency" EXACT
Secondary IDs
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MIM:615966
NCI:C176795
ORDO:317425
UMLS_CUI:C4014833