severe combined immunodeficiency due to DNA-PKcs deficiency
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.
MONDO:0017855
T-B- severe combined immunodeficiency
is_a
IMD26
related
SCID due to DNA-PKcs deficiency
exact
immunodeficiency 26 with or without neurologic abnormalities
related