severe combined immunodeficiency
ICD-10: D81.0MeSH: D016511ORPHA: 33355
Overview
combined T cell and B cell immunodeficiency that is caused by a defect in several genes encoding for B and T lymphocytes resulting in individuals with non-functional immune systems
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, sourced from HPO and Orphanet clinical annotations.
Hearing impairmentChronic otitis mediaSkin rashFailure to thriveWeight lossAbnormality of neutrophilsDecreased total leukocyte countAnemiaDehydrationFeverDiarrheaMalabsorptionRecurrent respiratory infectionsAbnormality of mitochondrial metabolismDecreased circulating immunoglobulin concentrationSevere combined immunodeficiencyCellular immunodeficiencyAplasia/Hypoplasia of the thymusSepsisSkin ulcerLymphopenia
Classification & Codes
ICD-10 Code
D81.0MeSH Code
D016511Orphanet Code
ORPHA:33355severe combined immunodeficiency
| ICD-10 | D81.0 |
| MeSH | D016511 |
| Orphanet | ORPHA:33355 |
| Treatments | 0 drug(s) |
| Symptoms on record | 21 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO