complement factor b deficiency
MONDO:0014255Mondo
Findings
No curated finding names complement factor b deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Childhood onset
HPO, annotations 2026-09-02
Features
6 features
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.
- Decreased circulating complement factor B concentrationHPOHP:0005416
- MeningitisHPOHP:0001287
- PeritonitisHPOHP:0002586
- PneumoniaHPOHP:0002090
- Recurrent bacterial infectionsHPOHP:0002718
- Recurrent Neisseria meningitidis infectionHPOHP:0005381
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.
- CFBHGNC:1037
- Moderate · Ambry Genetics · Autosomal recessive · 2023
Where it sits
- A kind of