Living with C1Q deficiency
A rare immune condition linked to skin sores, repeated infections, and lupus-like disease.
Understanding C1Q deficiency
It is linked to recurrent skin sores, chronic infections, systemic lupus erythematosus (SLE) or SLE-like diseases, and sometimes kidney disease (mesangial proliferative glomerulonephritis). The complement system is a group of proteins that work with the immune system. About 93% of cases are associated with lupus.
Signs & symptoms
Symptoms vary from person to person. GARD lists these:
- Repeated infections (ear, urinary tract, mouth, meningitis)
- Skin lesions that worsen in light
- Lupus (SLE) or lupus-like disease
- Cataracts
- Loss of eyelashes, eyebrows, and scalp hair
- Blood in urine and kidney inflammation
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
Your doctor may refer you to a specialist who knows rare conditions.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
Immune Deficiency Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- A doctor familiar with rare conditions, plus specialists as needed
- 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 C1QA, C1QB, or C1QC genes cause this condition. It is autosomal recessive, which means a child inherits a changed copy of the gene from each parent.
Also known as: c1qd
Patient organizations
- Immune Deficiency FoundationC1Q deficiency · United States
You are more than your diagnosis
Perspectives from people navigating life with C1Q deficiency.
Explore research for C1Q deficiency
Explore actively recruiting C1Q deficiency studies with HealthSpark.
Find actively recruiting studies for C1Q deficiency 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
Powered by HealthSpark, our AI chat helper
I can help you find recruiting C1Q deficiency studies. Enter a ZIP code, address or city below and I'll look within 50 miles.
Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
Get Signals for C1Q deficiency
Stay in the loop with community stories and updates from medical researchers.
Create a living journal that talks back
HealthStory evolves private journaling with a living AI journal that talks back and asks thoughtful questions, helping you capture your C1Q deficiency experiences more deeply and prepare for better conversations with your doctors and care team.
Your journal is private. Sharing your story publicly is a separate choice, made with Share your story above.