severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, Nk cell-positive
ORPHA: 331206
Overview
severe combined immunodeficiency characterized by being T cell-negative, B cell-negative and natural killer cell-positive and that has material basis in mutation in the RAG1 and RAG2 genes on chromosome 11p12
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 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, Nk cell-positive, sourced from HPO and Orphanet clinical annotations.
Decreased circulating IgA concentrationDecreased circulating total IgMDecreased circulating immunoglobulin concentrationDecreased circulating IgG concentrationRecurrent viral infectionsAbnormal B cell countAbnormal total T cell countFailure to thriveDecreased total lymphocyte countFeverRecurrent bacterial infectionsRecurrent enteroviral infectionsRecurrent fungal infectionsProtracted diarrheaDecreased mitogen-induced T-cell proliferationReduced antigen-specific T cell proliferationDecreased total T cell countRecurrent upper and lower respiratory tract infectionsPallorSkin rashHepatosplenomegalyThrombocytopeniaIncreased total eosinophil countAutoimmune hemolytic anemiaHepatomegalyLymphadenitisElevated circulating hepatic transaminase concentrationAutoimmunityAbnormal total natural killer cell count
Classification & Codes
Orphanet Code
ORPHA:331206severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, Nk cell-positive
| Orphanet | ORPHA:331206 |
| Treatments | 0 drug(s) |
| Symptoms on record | 29 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO