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immunodeficiency due to MASP-2 deficiency - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

immunodeficiency due to MASP-2 deficiency

MONDO:0013423

Also known as:MASP2 deficiencylectin complement activation pathway, defect in, 2

Overview

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.

GeneticsAutosomal recessive · MASP2 (chr 1)

ResearchLimited published research (1 article)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Ulcerative colitis, Reduced circulating complement concentration, Systemic lupus erythematosus, and Recurrent pneumonia.

Organ System	Phenotype Count	Example Features
Digestive system	1	Ulcerative colitis

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

MASP2 encodes MBL associated serine protease 2 (686 aa). Precursor of a serum protease that activates the lectin pathway of the complement system, a cascade of proteins that leads to phagocytosis and breakdown of pathogens and signaling that strengthens the adaptive immune system. Highest expression in Liver (119.6 TPM) and Brain Cerebellar Hemisphere (18.0 TPM).

Immunodeficiency due to MASP-2 deficiency is associated with mutations in the MASP2 gene on chromosome 1.

The MASP2 protein participates in SERPING1 variant is not secreted and Activated MASP2-1 pathways.

MASP2 is classified as a druggable target (Druggable Genome, Enzyme, and Protease categories) with score 104.4.

Diagnosis

Genetic testing for MASP2 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 4 always present features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for immunodeficiency due to MASP-2 deficiency.

1 publication has been identified in PubMed for immunodeficiency due to MASP-2 deficiency. Research spans Review / Meta-Analysis (100%).

Recent Publications

García-Soidán A (2025). [PMID: 40513623](https://pubmed.ncbi.nlm.nih.gov/40513623/). *The Journal of allergy and clinical immunology*. [Review / Meta-Analysis]

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 5:37 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:613791

Orphanet

European rare disease database

Orphanet:331187

GARD

Genetic and Rare Diseases Info Center

GARD:17512

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
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immunodeficiency due to MASP-2 deficiency

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

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Questions for Your Care Team

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