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severe combined immunodeficiency due to DNA-PKcs deficiency

Disease Summary
Associated Targets (1)
Tchem

1


Mondo Description 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.
Uniprot Description A form of severe combined immunodeficiency characterized by reduced or absent T and B cells, recurrent candidiasis, and lower respiratory tract infections. Some patients show dysmorphic features, severe growth failure, microcephaly, seizures, and impaired neurological functions.
Mondo Term and Equivalent IDs
MONDO:0014423:  severe combined immunodeficiency due to DNA-PKcs deficiency
Orphanet:317425: 
SCTID:716871006: 
UMLS:C4014833: