artemis deficiency
ORPHA: 275
Overview
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
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with artemis deficiency, sourced from HPO and Orphanet clinical annotations.
Decreased total T cell countDecreased total B cell countAutoimmune hemolytic anemiaBronchiectasisRecurrent bacterial infectionsDecreased circulating IgA concentrationDecreased circulating IgG concentrationRecurrent opportunistic infectionsCutaneous abscessVerrucaeRecurrent upper and lower respiratory tract infectionsCutaneous granulomaOtitis mediaSkin rashVitiligoFailure to thriveAutoimmune thrombocytopeniaIntractable diarrheaNeoplasmAutoimmunityRecurrent viral infectionsJuvenile rheumatoid arthritisChronic oral candidiasisRecurrent aphthous stomatitisRecurrent mycobacterial infectionsRecurrent gastroenteritisHashimoto thyroiditis
Classification & Codes
Orphanet Code
ORPHA:275artemis deficiency
| Orphanet | ORPHA:275 |
| Treatments | 0 drug(s) |
| Symptoms on record | 27 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO