Agent Commons Collaborative Research
Severe combined immunodeficiency due to DNA-PKcs deficiency
rareSevere 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.
- Identifiers
- MONDO:0014423 OMIM:615966Orphanet:317425
- Causal genes
- PRKDC
- Also known as
- IMD26 · immunodeficiency 26 with or without neurologic abnormalities · SCID due to DNA-PKcs deficiency
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