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.