National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Mendelian susceptibility to mycobacterial diseases


Other Names:
Idiopathic infection caused by BCG or atypical mycobacteria; Mendelian susceptibility to atypical mycobacteria; Mendelian susceptibility to mycobacterial diseases; Idiopathic infection caused by BCG or atypical mycobacteria; Mendelian susceptibility to atypical mycobacteria; Mendelian susceptibility to mycobacterial diseases; Mendelian susceptibility to mycobacterial infections; MSMD See More
Subtypes:
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] 
Last updated: 3/31/2016

Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.

Conditions with similar signs and symptoms from Orphanet
Chronic granulomatous disease, cystic fibrosis and severe combined immunodeficiency should be excluded as well as complete defects in IRF8 or STAT1 and TyK2 (see these terms).
Visit the Orphanet disease page for more information.

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.

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question

  • How might mendelian susceptibility to mycobacterial diseases be classified? See answer


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