Overview
Immunodeficiency due to a complement cascade component deficiency is a group of rare inherited conditions in which one or more proteins of the complement system are missing or do not work properly. The complement system is a set of about 30 proteins in the blood that work together as part of your immune defense. These proteins help your body fight infections by tagging bacteria and other germs for destruction, directly killing some germs, and helping clear dead cells. When one of these complement proteins is deficient, the immune system cannot fully protect the body. People with complement deficiencies are more prone to serious and recurrent bacterial infections, particularly those caused by encapsulated bacteria such as Neisseria meningitidis (which causes meningitis and sepsis), Streptococcus pneumoniae, and Haemophilus influenzae. Depending on which complement component is missing, some individuals may also develop autoimmune conditions such as systemic lupus erythematosus (SLE or lupus), kidney inflammation, or recurrent skin infections. Symptoms can range from mild to life-threatening. Treatment focuses on preventing and promptly treating infections. This includes vaccinations against common encapsulated bacteria, prophylactic antibiotics in some cases, and rapid antibiotic treatment when infections occur. There is no cure that replaces the missing complement protein on a long-term basis, though research continues. Early diagnosis and a strong prevention plan can significantly improve quality of life and reduce the risk of dangerous infections.
Key symptoms:
Recurrent bacterial infections, especially meningitisRepeated episodes of blood poisoning (sepsis)Frequent sinus infectionsRecurrent ear infectionsRecurrent pneumoniaSkin infections or abscessesLupus-like symptoms such as joint pain and skin rashesKidney inflammationSwelling episodes (in some types)Slow wound healingFatigue and general feeling of being unwellFever with no clear causeUnusual susceptibility to Neisseria infections (meningococcal disease)
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 cascade component deficiency.
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Specialists
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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 cascade component 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 component is deficient, and what does that mean for my risk of infections and autoimmune disease?,What vaccinations do I need, and how often should they be updated?,Should I take daily preventive antibiotics?,What are the warning signs that I should go to the emergency room immediately?,Should my family members be tested for this condition?,Are there any activities, travel destinations, or medications I should avoid?,What is the long-term outlook for someone with my specific complement deficiency?
Common questions about Immunodeficiency due to a complement cascade component deficiency
What is Immunodeficiency due to a complement cascade component deficiency?
Immunodeficiency due to a complement cascade component deficiency is a group of rare inherited conditions in which one or more proteins of the complement system are missing or do not work properly. The complement system is a set of about 30 proteins in the blood that work together as part of your immune defense. These proteins help your body fight infections by tagging bacteria and other germs for destruction, directly killing some germs, and helping clear dead cells. When one of these complement proteins is deficient, the immune system cannot fully protect the body. People with complement de