Features include always present findings: Encephalopathy, Seizure, Elevated circulating alanine aminotransferase concentration, and Howell-Jolly bodies and others; and common findings: Brain shrinkage (cerebral atrophy) and Liver scarring (fibrosis) (hepatic fibrosis). 15 total HPO annotations.

FADD encodes Fas associated via death domain (208 aa). Apoptotic adapter molecule that recruits caspases CASP8 or CASP10 to the activated FAS/CD95 or TNFRSF1A/TNFR-1 receptors. Highest expression in Cells Cultured fibroblasts (31.3 TPM) and Cells EBV-transformed lymphocytes (24.6 TPM).

FADD-related immunodeficiency is associated with mutations in the FADD gene on chromosome 11.

FADD is classified as a druggable target with score 8.7.

Genetic testing for FADD is available. Testing is considered confirmatory for diagnosis.

Phenotype severity distribution: 6 always present features, 2 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

No clinical trials have been registered for FADD-related immunodeficiency.

2 publications have been identified in PubMed for FADD-related immunodeficiency. Research spans Case Report / Case Series (50%) and Basic Science / Preclinical (50%).

Recent Publications

• Lu J (2025). [PMID: 40658608](https://pubmed.ncbi.nlm.nih.gov/40658608/). *Cancer Res*. [Basic Science / Preclinical]

• Giovannini G (2024). [PMID: 38752438](https://pubmed.ncbi.nlm.nih.gov/38752438/). *Epilepsia*. [Case Report / Case Series]