Overview
FADD-related immunodeficiency is an extremely rare genetic disorder caused by mutations in the FADD gene (also known as Fas-Associated Death Domain protein deficiency). The FADD protein plays a critical role in the immune system by helping control a process called apoptosis, which is the body's way of removing damaged or unnecessary cells. When this protein does not work properly, the immune system cannot function normally, leading to a primary immunodeficiency. Children with this condition typically develop recurrent and severe bacterial and viral infections starting in early life. They may also experience episodes of a condition called functional asplenia, where the spleen does not work properly, making them especially vulnerable to certain types of bacterial infections. Recurrent fevers, sometimes triggered by infections, are common. Some patients also develop features that overlap with autoimmune lymphoproliferative syndrome (ALPS), including enlarged lymph nodes and an enlarged spleen. Seizures, particularly febrile seizures, and brain-related complications have also been reported. There is currently no cure for FADD-related immunodeficiency. Treatment focuses on preventing and managing infections through antibiotics, antiviral medications, and sometimes immunoglobulin replacement therapy. Hematopoietic stem cell transplantation (bone marrow transplant) has been considered in severe cases. Early diagnosis and close monitoring by immunology specialists are essential to improve outcomes.
Key symptoms:
Recurrent severe bacterial infectionsRecurrent viral infectionsRecurrent fevers or episodes of high feverFebrile seizures or other seizuresEnlarged lymph nodesEnlarged spleenFunctional asplenia (spleen not working properly)Liver enlargementBrain inflammation or encephalopathyFailure to thrive or poor growthLow blood cell countsHeart defects in some casesAutoimmune-like symptoms
Clinical phenotype terms (8)— hover any for plain English
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Infantile
Begins in infancy, roughly 1 month to 2 years old
Treatments
No FDA-approved treatments are currently listed for FADD-related immunodeficiency.
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Specialists
View all specialists →No specialists are currently listed for FADD-related immunodeficiency.
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to FADD-related immunodeficiency.
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Caregiver Resources
NORD Caregiver Resources
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Mental Health Support
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Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.How severe is my child's immune deficiency, and what infections are they most at risk for?,What preventive medications should my child take, and how often?,Is immunoglobulin replacement therapy recommended for my child?,Should we consider bone marrow transplantation, and what are the risks and benefits?,What vaccines are safe for my child, and which ones should be avoided?,What should I do if my child develops a fever or seizure at home?,Are there any clinical trials or new treatments being studied for this condition?
Common questions about FADD-related immunodeficiency
What is FADD-related immunodeficiency?
FADD-related immunodeficiency is an extremely rare genetic disorder caused by mutations in the FADD gene (also known as Fas-Associated Death Domain protein deficiency). The FADD protein plays a critical role in the immune system by helping control a process called apoptosis, which is the body's way of removing damaged or unnecessary cells. When this protein does not work properly, the immune system cannot function normally, leading to a primary immunodeficiency. Children with this condition typically develop recurrent and severe bacterial and viral infections starting in early life. They may
How is FADD-related immunodeficiency inherited?
FADD-related immunodeficiency follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does FADD-related immunodeficiency typically begin?
Typical onset of FADD-related immunodeficiency is infantile. Age of onset can vary across affected individuals.