Cernunnos deficiency
MeSH: C566970ORPHA: 169079
Overview
Cernunnos-XLF deficiency is a rare form of combined immunodeficiency characterized by microcephaly, growth retardation, and T and B cell lymphopenia
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 Cernunnos deficiency, sourced from HPO and Orphanet clinical annotations.
MicrocephalyBird-like faciesSloping foreheadBulbous noseConvex nasal ridgeGrowth delayThrombocytopeniaDecreased total lymphocyte countAnemiaRecurrent bacterial infectionsImmunodeficiencyAutoimmunityDecreased circulating immunoglobulin concentrationRecurrent viral infectionsDecreased total T cell countDecreased total B cell count
Classification & Codes
MeSH Code
C566970Orphanet Code
ORPHA:169079Cernunnos deficiency
| MeSH | C566970 |
| Orphanet | ORPHA:169079 |
| Treatments | 0 drug(s) |
| Symptoms on record | 16 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO