Overview
Combined immunodeficiency due to TFRC deficiency is a very rare inherited disease that affects the immune system. TFRC stands for Transferrin Receptor 1, a protein that helps cells absorb iron. When this protein does not work properly, certain immune cells — especially T cells and B cells, which are the body's infection-fighting soldiers — cannot develop or function normally. This leaves the body poorly equipped to fight off bacteria, viruses, and fungi. People with this condition typically experience serious, repeated infections starting in infancy or early childhood. These infections can affect the lungs, gut, skin, and other organs. Because the immune system is so weakened, even germs that would not normally cause illness in healthy people can become life-threatening. The condition is sometimes grouped under the broader category of combined immunodeficiencies (CID), meaning both T cells and B cells are affected. Treatment focuses on protecting the patient from infections using preventive antibiotics and antifungal medicines, replacing missing antibodies through infusions (immunoglobulin therapy), and potentially curing the disease through a bone marrow or stem cell transplant. Early diagnosis and treatment are critical to improving outcomes and survival.
Key symptoms:
Repeated and severe infections (lung, gut, skin, blood)Infections caused by unusual or opportunistic germsFailure to thrive or poor weight gain in infancyChronic diarrheaSkin rashes or infectionsSwollen lymph nodesLow levels of protective antibodies in the bloodReduced number or function of T cells and B cellsFever that keeps coming backLung infections such as pneumonia
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 Combined immunodeficiency due to TFRC deficiency.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for Combined immunodeficiency due to TFRC deficiency at this time.
New trials open frequently. Follow this disease to get notified.
Specialists
View all specialists →No specialists are currently listed for Combined immunodeficiency due to TFRC deficiency.
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 Combined immunodeficiency due to TFRC deficiency.
Community
No community posts yet. Be the first to share your experience with Combined immunodeficiency due to TFRC deficiency.
Start the conversation →Latest news about Combined immunodeficiency due to TFRC deficiency
No recent news articles for Combined immunodeficiency due to TFRC deficiency.
Follow this condition to be notified when news becomes available.
Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
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.Is my child a candidate for a stem cell transplant, and how soon should we consider it?,What infections should I watch for most closely, and when should I go to the emergency room?,How often does my child need immunoglobulin infusions, and can these be done at home?,Are there any clinical trials or research studies we could join?,Should other family members be tested for the TFRC gene change?,What vaccinations are safe for my child, and which ones should be avoided?,What support services are available to help our family manage day-to-day care?
Common questions about Combined immunodeficiency due to TFRC deficiency
What is Combined immunodeficiency due to TFRC deficiency?
Combined immunodeficiency due to TFRC deficiency is a very rare inherited disease that affects the immune system. TFRC stands for Transferrin Receptor 1, a protein that helps cells absorb iron. When this protein does not work properly, certain immune cells — especially T cells and B cells, which are the body's infection-fighting soldiers — cannot develop or function normally. This leaves the body poorly equipped to fight off bacteria, viruses, and fungi. People with this condition typically experience serious, repeated infections starting in infancy or early childhood. These infections can af
How is Combined immunodeficiency due to TFRC deficiency inherited?
Combined immunodeficiency due to TFRC deficiency follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Combined immunodeficiency due to TFRC deficiency typically begin?
Typical onset of Combined immunodeficiency due to TFRC deficiency is infantile. Age of onset can vary across affected individuals.