properdin deficiency, X-linked
Findings
No curated finding names properdin deficiency, X-linked yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A rare, hereditary, primary immunodeficiency due to a complement cascade protein anomaly characterized by significantly increased susceptibility to Neisseria species infections. It only affects males, typically presenting with severe or fulminant meningococcal disease.
Definition from the Mondo Disease Ontology (MONDO:0010713), read 2026-09-29. CC BY 4.0.
- Inheritance
- X-linked recessive inheritance
HPO, annotations 2026-09-02
Features
1 feature
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormal circulating properdin concentrationHPOHP:0031300
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- CFPHGNC:8864
- Strong · Labcorp Genetics (formerly Invitae) · X-linked · 2021
- Supportive · Orphanet · X-linked · 2021
Where it sits
Other names
1 name
Resolves to: properdin deficiency, X-linked
- Also called
- properdin deficiency, X-linked, X-linked recessive