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severe combined immunodeficiency with sensitivity to ionizing radiation
Summary
- Synonym
-
- SCID due to DCLRE1C deficiency
- SCID due to artemis deficiency
- SCID, Athabascan type
- SCID, Athabaskan type
- Severe combined immunodeficiency due to DCLRE1C deficiency
- Severe combined immunodeficiency due to artemis deficiency
- Severe combined immunodeficiency, Athabascan type
- Severe combined immunodeficiency, Athabaskan type
- artemis deficiency
- Definition
- A severe combined immunodeficiency characterized by being T cell-negative, B cell-negative and natural killer cell-positive with sensitivity to ionizing radiation and that has_material_basis_in mutation in the DCLRE1C gene on chromosome 10p13.
- Super Class
- autosomal recessive disease severe combined immunodeficiency
External Links
- Disease Ontology
- DOID:0090012
- Mondo Disease Ontology
- MeSH
- ORDO
- OMIM
- MGI genotype (from TogoID)
