immunodeficiency due to ficolin3 deficiency
MONDO:0013467Mondo
Findings
No curated finding names immunodeficiency due to ficolin3 deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
5 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.
- Necrotizing enterocolitisHPOHP:0033165
- 2 of 2 reported patients · Neonatal onset
- Recurrent Staphylococcus aureus infectionHPOHP:0002726
- 1 of 2 reported patients
- Recurrent abscess formationHPOHP:0002722
- Recurrent lower respiratory tract infectionsHPOHP:0002783
- VerrucaeHPOHP:0200043
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.
- FCN3HGNC:3625
- Moderate · PanelApp Australia · Autosomal recessive · 2025
- Limited · Ambry Genetics · Autosomal recessive · 2018