Living with Immunodeficiency due to MASP-2 deficiency
A rare inherited immune condition with low MASP-2 levels; some people have infections or autoimmune disease and some have no symptoms.
Understanding Immunodeficiency due to MASP-2 deficiency
Susceptibility to bacterial infections varies, including tuberculosis of the lungs, pneumococcal pneumonia, skin abscesses, and sepsis. Autoimmune disease may occur. In many cases there are no symptoms.
Signs & symptoms
Symptoms vary from person to person, and many people have none. GARD lists these:
- Repeated pneumonia
- Low complement levels in the blood
- Lupus (systemic lupus erythematosus)
- Ulcerative colitis
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include allergy and immune system specialists and genetic specialists.
- 3Consider genetic testing
Changes in MASP2 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
Immune Deficiency Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Allergy and immune system specialists (allergists / immunologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: Immune Deficiency Foundation
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Immune Deficiency Foundation
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in the MASP2 gene cause this condition. It is inherited in an autosomal recessive pattern, meaning a child inherits a changed copy of the gene from each parent.
Also known as: lectin complement activation pathway, defect in, 2; masp2 deficiency
Patient organizations
- Immune Deficiency FoundationPrimary immunodeficiency · United States
Broader rare-disease groups
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Immunodeficiency due to MASP-2 deficiency.
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