Disease Ontology:8 A severe combined immunodeficiency that is caused when the dclrei1, dna cross-link repair 1c gene contains mutations resulting in the inability to repair dna.
MalaCards based summary: Artemis Deficiency is related to severe immunodeficiency, autosomal recessive, t-cell negative, b-cell negative, nk cell-positive and inflammatory bowel disease. An important gene associated with Artemis Deficiency is DCLRE1C (DNA cross-link repair 1C), and among its related pathways is Non-homologous end-joining. Related mouse phenotypes are immune system and hematopoietic system.
Diseases related to Artemis Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:
Articles related to Artemis Deficiency:
Search GEO for disease gene expression data for Artemis Deficiency.
26ICD10 via Orphanet
34MESH via Orphanet
47OMIM via Orphanet
57SNOMED-CT via Orphanet
62UMLS via Orphanet