immunodeficiency due to MASP-2 deficiency
Findings
No curated finding names immunodeficiency due to MASP-2 deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Immunodeficiency due to MASP-2 deficiency is a rare, genetic immunodeficiency due to a complement cascade protein anomaly characterized by low serum levels of MASP-2 and a variable susceptibility to bacterial infections (e.g. pulmonary tuberculosis, pneumococcal pneumonia, skin abscesses and sepsis), and autoimmune diseases (e.g. inflammatory lung disease, cystic fibrosis, systemic lupus erythematosus). In many cases it remains asymptomatic.
Definition from the Mondo Disease Ontology (MONDO:0013423), read 2026-09-29. CC BY 4.0.
Features
4 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.
- Recurrent pneumoniaHPOHP:0006532
- 1 of 1 reported patient
- Reduced circulating complement concentrationHPOHP:0004431
- 1 of 1 reported patient
- Systemic lupus erythematosusHPOHP:0002725
- 1 of 1 reported patient
- Ulcerative colitisHPOHP:0100279
- 1 of 1 reported patient
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.
- MASP2HGNC:6902
- Strong · Laboratory for Molecular Medicine · Autosomal recessive · 2020
- Limited · PanelApp Australia · Autosomal recessive · 2025