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.
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severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
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short-limb skeletal dysplasia with severe combined immunodeficiency
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combined immunodeficiency with skin granulomas
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reticular dysgenesis
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severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
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severe combined immunodeficiency due to DCLRE1C deficiency
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