/severe combined immunodeficiency due to DCLRE1C deficiency

severe combined immunodeficiency due to DCLRE1C deficiency

Rare Disease

MONDO:0011225

Also Known As

DCLRE1C severe combined immunodeficiency (disease)SCID due to ARTEMIS deficiencySCID due to DCLRE1C deficiencySCID due to artemis deficiencySCID, Athabascan typeSCID, Athabaskan typesevere combined immunodeficiency (disease) caused by mutation in DCLRE1Csevere combined immunodeficiency due to ARTEMIS deficiencysevere combined immunodeficiency due to DCLRE1C deficiencysevere combined immunodeficiency due to artemis deficiencyAthabaskan Severe combined immunodeficiencyRS-SCIDSCID, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive, with sensitivity to ionising radiationSCID, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive, with sensitivity to ionizing radiationartemis deficiencysevere combined immunodeficiency with sensitivity to ionising radiationsevere combined immunodeficiency with sensitivity to ionizing radiationsevere combined immunodeficiency, Athabascan typesevere combined immunodeficiency, Athabaskan typesevere combined immunodeficiency, Athabaskan-typesevere combined immunodeficiency, partial

Definition

Severe combined immunodeficiency (SCID) due to DCLRE1C deficiency is a type of SCID characterized by severe and recurrent infections, diarrhea, failure to thrive, and cell sensitivity to ionizing radiation.