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autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency

The information provided on this page is for informational purposes only. The National Organization for Rare Disorders (NORD) does not endorse the information presented. The content has been gathered in partnership with the MONDO Disease Ontology. Please consult with a healthcare professional for medical advice and treatment.

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Disease Overview

A genetic variant of mendelian susceptibility to mycobacterial diseases characterized by a partial deficiency in IFN-gammaR2, leading to impaired response to IFN-gamma and, consequently, to recurrent, moderately severe infections with bacillus Calmette-Guerin (BCG) and other environmental mycobacteria (EM).

Synonyms

  • IFNGR2 autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency
  • autosomal dominant MSMD due to partial IFNgammaR2 deficiency
  • autosomal dominant MSMD due to partial interferon gamma receptor 2 deficiency
  • autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency caused by mutation in IFNGR2
  • autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 2 deficiency
Orphanet

Orphanet has a summary about this condition that may include information on the diagnosis, care, and treatment as well as other resources. Some of the information and resources are available in languages other than English. The summary may include medical terms, so we encourage you to share and discuss this information with your doctor. Orphanet is the French National Institute for Health and Medical Research and the Health Programme of the European Union.

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