FADD-related immunodeficiency
Findings
No curated finding names FADD-related immunodeficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A rare genetic immunological disease reported in a single consanguineous Pakistani family with several affected members presenting with severe bacterial and viral infections, recurrent hepatopathy (portal inflammation, fibrosis), and recurrent, stereotypical febrile episodes, sometimes lasting several days, with encephalopathy and difficult-to-control seizures. Variable cardiac malformations were also reported. Although there were autoimmune lymphoproliferative syndrome (ALPS)-like biological features, clinical ALPS was not present. A homozygous missense mutation in the FADD gene (11q13.3) was found in the family and the disease is thought to follow an autosomal recessive pattern of inheritance.
Definition from the Mondo Disease Ontology (MONDO:0013408), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Death in childhood
HPO, annotations 2026-09-02
Features
15 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Cerebral atrophyHPOHP:0002059
- 3 of 3 reported patients
- Frequent (30% to 79% of cases)
- Decreased liver functionHPOHP:0001410
- Obligate (100% of cases)
- Elevated circulating alanine aminotransferase concentrationHPOHP:0031964
- 2 of 2 reported patients
- EncephalopathyHPOHP:0001298
- 4 of 4 reported patients
- Obligate (100% of cases)
- Howell-Jolly bodiesHPOHP:0032550
- 2 of 2 reported patients
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- FADDHGNC:3573
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · ClinGen · Autosomal recessive · 2026
- Supportive · Orphanet · Autosomal recessive · 2021
- Limited · Ambry Genetics · Autosomal recessive · 2020
Where it sits
- A kind of
Other names
1 name
Resolves to: FADD-related immunodeficiency
- Also called
- immunodeficiency 90 with encephalopathy, functional hyposplenia, and hepatic dysfunction