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Disease Profile

Mendelian susceptibility to mycobacterial diseases

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.

Unknown

Age of onset

All ages

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ICD-10

D84.8

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

Idiopathic infection caused by BCG or atypical mycobacteria; Mendelian susceptibility to atypical mycobacteria; Mendelian susceptibility to mycobacterial diseases;

Summary

Mendelian susceptibility to mycobacterial diseases (MSMD) is a rare immunodeficiency syndrome, with susceptibility to mycobacteria, such as the vaccine against tuberculosis (bacillus Calmette-Guérin (BCG) and environmental mycobacteria. It is characterized by severe, recurrent infections, either systemic (widespread) or localized. It has many subtypes. The most serious types are the autosomal recessive complete interferon gamma receptor 1 (IFN-gammaR1) and receptor 2 (IFN-gammaR2) deficiencies. MSMD due to partial IFN-gammaR1, partial IFN-gammaR2, complete IL-12R-beta1, complete IL12B, complete ISG15, partial STAT1 and partial IRF8 deficiencies and MSMD due to partial X-linked recessive (XR) mutations are less severe subtypes. Only about half of patients with MSMD have an identified genetic cause. Nine genes are known to be responsible for MSMD. Seven of them are inherited in an autosomal recessive or autosomal dominant pattern (IFNGR1, IFNGR2, STAT1, IL12B, IL12RB1, IRF8 and ISG15 genes) and 2 are X-linked (IKBKG and CYBB genes). BCG vaccination should be avoided in those with MSMD. Treatment includes antibiotics and surgery for lymph node removal in some cases. Hematopoietic stem cell transplantation (HSCT) may be considered in specific cases. Prognosis depends on the specific mutation and the associated disorder.[1][2] 

    Learn more

    These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

    In-Depth Information

    • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.

    References

    1. Mendelian susceptibility to mycobacterial diseases: Specific defects. UpToDate. April 17, 2015; https://www.uptodate.com/contents/mendelian-susceptibility-to-mycobacterial-diseases-specific-defects.
    2. Mendelian susceptibility to mycobacterial diseases. Orphanet. 2013; https://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=8746.