Article
DNA-PKcs deficiency in human: long predicted, finally found.
Current opinion in allergy and clinical immunology - 1 Dec 2009
van der Burg Mirjam, van Dongen Jacques J M, van Gent Dik C
Abstract excerpt
PURPOSE OF REVIEW: To describe new immunological and molecular findings of DNA-dependent protein kinase catalytic subunit (DNA-PKcs) as a new candidate gene for radiosensitive T-B-severe combined immunodeficiency (SCID), which has implications for the diagnostic strategy of T-B-SCID. RECENT FINDINGS: The first human mutation in the gene encoding DNA-PKcs (PRKDC) has been identified in a radiosensitive T-B-SCID...
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