severe combined immunodeficiency with sensitivity to ionizing radiation

Term ID

DOID:0090012

Synonyms

• artemis deficiency
• SCID due to artemis deficiency
• SCID due to DCLRE1C deficiency
• SCID, Athabascan type
• SCID, Athabaskan type
• Severe combined immunodeficiency due to artemis deficiency
• Severe combined immunodeficiency due to DCLRE1C deficiency
• Severe combined immunodeficiency, Athabascan type
• Severe combined immunodeficiency, Athabaskan type

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. https://www.ncbi.nlm.nih.gov/pubmed/11336668

References

• ICD10CM:D81.1
• MESH:C537589
• OMIM:602450
• ORDO:275

Ontology

Human Disease   ( DOID:0090012 )