caspase-8 deficiency

ORPHA: 275517

Overview

autoimmune lymphoproliferative syndrome that has material basis in homozygous mutation in the CASP8 gene on chromosome 2q33

Available Treatments (0)

No treatments linked yet

Clinical trials or compassionate use may be available — consult a specialist.

Classification & Codes

Orphanet Code

ORPHA:275517
caspase-8 deficiency
OrphanetORPHA:275517
Treatments0 drug(s)
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO