FADD-related immunodeficiency
ORPHA: 306550
Overview
gene (11q13.3) was found in the family and the disease is thought to follow an autosomal recessive pattern of inheritance.
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 FADD-related immunodeficiency, sourced from HPO and Orphanet clinical annotations.
SeizureEncephalopathyDecreased liver functionHepatic fibrosisCerebral atrophyVentricular septal defectPulmonary artery atresiaAutoimmune antibody positivity
Classification & Codes
Orphanet Code
ORPHA:306550FADD-related immunodeficiency
| Orphanet | ORPHA:306550 |
| Treatments | 0 drug(s) |
| Symptoms on record | 8 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO