Additional Resources

Section

NORD State Resource Center Sidebar photo.

Get Information about a Rare Disease

Use the form below to explore NORD's comprehensive rare disease database. Search for detailed information on rare diseases, including NORD's authoritative Rare Disease Reports and data from other reliable sources.
* = NORD Rare Disease Report

Interested in exploring the database in detail?
Click here to explore the database in alphabetical order.

autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 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.

Print

Disease Overview

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

Synonyms

  • IFNGR1 autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency
  • IFNGR1 deficiency, autosomal dominant
  • IMD27B
  • autosomal dominant MSMD due to partial IFNgammaR1 deficiency
  • autosomal dominant MSMD due to partial interferon gamma receptor 1 deficiency
  • autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency caused by mutation in IFNGR1
  • autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 1 deficiency
  • immunodeficiency 27B
  • immunodeficiency 27B, Mycobacteriosis, autosomal dominant
  • immunodeficiency 27B, mycobacteriosis, AD
  • immunodeficiency type 27B
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.

View report
OMIM

Online Mendelian Inheritance In Man (OMIM) has a summary of published research about this condition and includes references from the medical literature. The summary contains medical and scientific terms, so we encourage you to share and discuss this information with your doctor. OMIM is authored and edited at the McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine.

View report
Sign Up for NORD News