severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, Nk cell-positive
ORPHA: 1691542 Treatments Available
Overview
human disease
Available Treatments (2)
| Drug | Form | Status | Countries | Lead Time |
|---|---|---|---|---|
| Fludarabine Orphan Cold Chain | IV infusion, 25mg/mL; Oral tablet, 10mg | FDA Approved | 6 | 10d |
| Busulfan Orphan | IV infusion, 6mg/mL; Oral tablet, 2mg | FDA Approved | 5 | 14d |
Clinical Presentation
Signs and symptoms associated with severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, Nk cell-positive, sourced from HPO and Orphanet clinical annotations.
Recurrent infectionsFailure to thriveDecreased total lymphocyte countRecurrent viral infectionsDecreased total T cell countDecreased CD8+ T cell proportionDecreased mitogen-induced T-cell proliferationDecreased CD4+ T cell proportionOral ulcerErythrodermaHepatosplenomegalyAlopeciaDecreased total neutrophil countIncreased total eosinophil countFeverAutoimmune thrombocytopeniaChronic diarrheaLymphadenopathyRecurrent lower respiratory tract infectionsRecurrent upper respiratory tract infectionsIncreased circulating IgE concentrationIncreased circulating IgG concentrationIncreased circulating IgA concentrationRecurrent candida infectionsIncreased circulating immunoglobulin concentrationPsoriasiform lesionNeonatal sepsisIncreased total lymphocyte count
Classification & Codes
Orphanet Code
ORPHA:169154severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, Nk cell-positive
| Orphanet | ORPHA:169154 |
| Treatments | 2 drug(s) |
| Symptoms on record | 28 signs |
| Status | published |
Treatment Summary
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO