Severe combined immunodeficiency due to DNA-PKcs deficiency
Severe combined immunodeficiency due to DNA-PKcs deficiency
Definition
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.
Also known as SCID due to DNA-PKcs deficiency — per MONDO