Living with Properdin deficiency, X-linked
A rare inherited immune condition in males that makes some serious bacterial infections more likely.
Understanding Properdin deficiency, X-linked
It strongly raises the chance of infections from Neisseria bacteria. It affects only males. It typically shows up as a severe, fast-moving meningococcal infection.
Signs & symptoms
GARD doesn't list specific symptoms for this condition yet. The summary describes this feature:
- Much higher risk of Neisseria infections
- Severe meningococcal disease
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
Specialists who may be involved include allergy and immune system specialists and genetic specialists.
- 3Consider genetic testing
Changes in CFP are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
Immune Deficiency Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Allergy and immune system specialists (allergists / immunologists); Genetic specialists (geneticists)
- 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
This condition is caused by changes in the CFP gene. It is X-linked, so it affects males.
Also known as: cfpd; complement factor properdin deficiency; properdin deficiency; properdin deficiency, type 1; properdin deficiency, type i; properdin deficiency, x-linked, x-linked recessive
Patient organizations
- Immune Deficiency FoundationPrimary immunodeficiency · United States
Broader rare-disease groups
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Properdin deficiency, X-linked.
Explore research for Properdin deficiency, X-linked
Explore actively recruiting Properdin deficiency, X-linked studies with HealthSpark.
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- Recruiting studies from ClinicalTrials.gov
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- Eligibility is confirmed by the study team
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