Details of Disease

General Information of Disease (ID: DISGPSAD)

Disease Name Severe combined immunodeficiency due to DNA-PKcs deficiency
Synonyms IMD26; immunodeficiency 26 with or without neurologic abnormalities; immunodeficiency 26, with or without neurologic abnormalities; SCID due to DNA-PKcs deficiency
Definition
Severe combined immunodeficiency (SCID) due to DNA-PKcs deficiency is an extremely rare type of SCID characterized by the classical signs of SCID (severe and recurrent infections, diarrhea, failure to thrive), absence of T and B lymphocytes, and cell sensitivity to ionizing radiation.
Disease Hierarchy
DIS225UQ: T-B- severe combined immunodeficiency
DISGPSAD: Severe combined immunodeficiency due to DNA-PKcs deficiency
Disease Identifiers
MONDO ID
MONDO_0014423
UMLS CUI
C4014833
OMIM ID
615966
MedGen ID
863270
Orphanet ID
317425

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
PRKDC TTK3PY9 moderate Genetic Variation [1]
PRKDC TTK3PY9 Definitive Autosomal recessive [2]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
PRKDC OTJVS4EG Definitive Autosomal recessive [2]
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References

1 PRKDC mutations in a SCID patient with profound neurological abnormalities.J Clin Invest. 2013 Jul;123(7):2969-80. doi: 10.1172/JCI67349. Epub 2013 Jun 3.
2 Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.