Living with Inherited susceptibility to mycobacterial diseases
A rare immune condition that makes people prone to infections from certain bacteria (mycobacteria).
Understanding Inherited susceptibility to mycobacterial diseases
People get severe, repeated infections, either widespread or localized. The most serious types are complete interferon gamma receptor 1 and 2 deficiencies. Only about half of people with MSMD have an identified genetic cause. Nine genes are known.
Signs & symptoms
GARD doesn't list specific symptoms for this condition yet. Its summary describes:
- Severe, repeated mycobacterial infections
- Infections spread through the body or limited to one area
- Infection from the BCG vaccine
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.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 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
Nine genes are known to be responsible. Seven are inherited in an autosomal recessive or dominant pattern (IFNGR1, IFNGR2, STAT1, IL12B, IL12RB1, IRF8, ISG15) and two are X-linked (IKBKG, CYBB).
Also known as: idiopathic infection caused by bcg or atypical mycobacteria; mammalian susceptibility to mycobacterial disease; mendelian susceptibility to atypical mycobacteria; mendelian susceptibility to mycobacterial diseases; mendelian susceptibility to mycobacterial infections; msmd
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 Inherited susceptibility to mycobacterial diseases.
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