Severe combined immunodeficiency due to DNA-PKcs deficiency

Orpha code: 317425OMIM code: 615966

Definition

Severe combined immunodeficiency (SCID) due to DNA-PKcs deficiency is an extremely rare type of SCID (see this term) 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.

Disease data
Classification

Disease

Synonyms
SCID due to DNA-PKcs deficiency
SCID z powodu niedoboru DNA-PKcs
ORPHA code
317425
OMIM code
615966
ICD10 code
D81.1
ICD11 code
-

No additional description.

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