Living with FADD-related immunodeficiency
A rare inherited immune condition with severe infections, liver problems, and fever episodes with seizures.
Understanding FADD-related immunodeficiency
People have severe bacterial and viral infections, repeated liver problems, and repeated fever episodes that can last days, with brain illness and seizures that are hard to control. Heart differences have also been reported.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Severe bacterial and viral infections
- Seizures
- Brain illness (encephalopathy)
- Reduced liver function
- Scarring of the liver (fibrosis)
- Shrinking of the brain (cerebral atrophy)
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include allergy and immune system specialists, cancer specialists and genetic specialists.
- 3Consider genetic testing
Changes in FADD are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
Immune Deficiency Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Allergy and immune system specialists (allergists / immunologists); Cancer specialists (oncologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: Immune Deficiency Foundation
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Immune Deficiency Foundation
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in the FADD gene cause this condition. It is autosomal recessive, which means a child inherits a changed copy of the gene from each parent.
Also known as: fadd deficiency; immunodeficiency 90 with encephalopathy, functional hyposplenia, and hepatic dysfunction; infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations
Patient organizations
- Immune Deficiency FoundationPrimary immunodeficiency · United States
Broader rare-disease groups
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with FADD-related immunodeficiency.
Explore research for FADD-related immunodeficiency
Explore actively recruiting FADD-related immunodeficiency studies with HealthSpark.
Find actively recruiting studies for FADD-related immunodeficiency with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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