Condition: IMMUNODEFICIENCY 26 WITH OR WITHOUT NEUROLOGIC ABNORMALITIES
rs587777685
in
PRKDC
gene and
IMMUNODEFICIENCY 26 WITH OR WITHOUT NEUROLOGIC ABNORMALITIES
PMID 19075392
2009 A DNA-PKcs mutation in a radiosensitive T-B- SCID patient inhibits Artemis activation and nonhomologous end-joining.
PMID 23722905
2013 PRKDC mutations in a SCID patient with profound neurological abnormalities.