Overview
Immunodeficiency due to a complement regulatory deficiency is a rare condition that affects the immune system's complement pathway. The complement system is a group of proteins in the blood that help the body fight infections and clear damaged cells. In a healthy person, special regulatory proteins keep the complement system in check so it doesn't attack the body's own tissues. In this condition, one or more of these regulatory proteins are missing or don't work properly. This means the complement system can become overactive, damaging the body's own cells, or underactive, leaving the person vulnerable to infections. People with this condition may experience frequent or severe bacterial infections, particularly from encapsulated bacteria like meningococcus and pneumococcus. They may also develop autoimmune-like symptoms, where the immune system mistakenly attacks healthy tissues. Some patients experience episodes of swelling, kidney problems, or destruction of red blood cells depending on which regulatory protein is affected. Treatment focuses on preventing and managing infections, often with antibiotics and vaccinations. In some cases, specific complement-targeted therapies such as eculizumab may be used. Plasma infusions or replacement therapy may also be considered. Management is lifelong and requires close coordination with immunology specialists. Early diagnosis and preventive care can significantly improve quality of life and reduce the risk of life-threatening infections.
Key symptoms:
Frequent or severe bacterial infectionsRecurrent meningitisSkin infectionsKidney problems or blood in the urineDestruction of red blood cells (hemolytic anemia)Episodes of unexplained swellingFatigue and weaknessFever that keeps coming backJoint pain or swellingRashes or skin changesAutoimmune-like symptomsSlow wound healingRespiratory infections such as pneumonia
Variable
Can be inherited in different ways depending on the underlying gene
Variable
Can begin at different ages, from infancy through adulthood
Treatments
No FDA-approved treatments are currently listed for Immunodeficiency due to a complement regulatory deficiency.
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Specialists
View all specialists →No specialists are currently listed for Immunodeficiency due to a complement regulatory 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 Immunodeficiency due to a complement regulatory deficiency.
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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.Which specific complement regulatory protein is affected in my case?,What vaccinations do I need, and how often should they be updated?,Should I take daily antibiotics to prevent infections?,Are complement-targeted therapies like eculizumab appropriate for me?,What are the warning signs that I should go to the emergency room?,Should my family members be tested for this condition?,How often do I need blood tests or other monitoring?
Common questions about Immunodeficiency due to a complement regulatory deficiency
What is Immunodeficiency due to a complement regulatory deficiency?
Immunodeficiency due to a complement regulatory deficiency is a rare condition that affects the immune system's complement pathway. The complement system is a group of proteins in the blood that help the body fight infections and clear damaged cells. In a healthy person, special regulatory proteins keep the complement system in check so it doesn't attack the body's own tissues. In this condition, one or more of these regulatory proteins are missing or don't work properly. This means the complement system can become overactive, damaging the body's own cells, or underactive, leaving the person v