Autosomal Dominant Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Ifngammar1 Deficiency

Description

Autosomal dominant (AD) mendelian susceptibility to mycobacterial diseases (MSMD) due to partial interferon gamma receptor 1 (IFN-gammaR1) deficiency is a genetic variant of MSMD (see this term) characterized by a partial deficiency leading to impaired IFN-gamma immunity and, consequently, recurrent, moderately severe infections with bacillus Calmette-Guérin (BCG) and other environmental mycobacteria (EM).

Clinical Features

Phenotypes and symptoms related to Autosomal Dominant Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Ifngammar1 Deficiency

  • Pain
  • Immunodeficiency
  • Pneumonia
  • Osteomyelitis
  • Hip pain
  • Generalized lymphadenopathy
  • Recurrent mycobacterial infections
  • Salmonella osteomyelitis

Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Alternative names

Autosomal Dominant Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Ifngammar1 Deficiency Is also known as autosomal dominant msmd due to partial interferon gamma receptor 1 deficiency, immunodeficiency 27b, mycobacteriosis, autosomal dominant, autosomal dominant msmd due to partial ifngammar1 deficiency, autosomal dominant mendelian susceptibility to mycobacteri.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


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Autosomal Dominant Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Ifngammar1 Deficiency Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Interferon-gamma Receptor Deficiency: IFNGR1 (Full Gene Sequencing).

By Molecular Diagnostic Laboratory University of Alberta (Canada).

IFNGR1
Specificity
100 %
Genes
100 %
Interferon-gamma Receptor Deficiency: IFNGR1 (Known Mutation).

By Molecular Diagnostic Laboratory University of Alberta (Canada).

IFNGR1
Specificity
100 %
Genes
100 %
Interferon-gamma Receptor Deficiency: Two-gene Profile (IFNGR1, IFNGR2) (Full Gene Sequencing).

By Molecular Diagnostic Laboratory University of Alberta (Canada).

IFNGR1, IFNGR2
Specificity
50 %
Genes
100 %
IFNGR1 Sequencing.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).

IFNGR1
Specificity
100 %
Genes
100 %
IFNGR1 Deletion/duplication analysis.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).

IFNGR1
Specificity
100 %
Genes
100 %
Immunodeficiency 27A, mycobacteriosis AR (sequence analysis of IFNGR1 gene).

By CGC Genetics (Portugal).

IFNGR1
Specificity
100 %
Genes
100 %
Mycobacterial infection, atypical, familial disseminated.

By Centogene AG - the Rare Disease Company (Germany).

IFNGR1
Specificity
100 %
Genes
100 %
Defects of phagocytosis Panel.

By CeGaT GmbH (Germany).

STAT1, TAZ, TCIRG1, TCN2, TERT, WAS, WIPF1, ACTB, VPS45, HPS3, HPS4, HAX1, HPS5, DTNBP1, CEBPE, HPS6, SBDS, SLC35C1, BLOC1S3, VPS13B , (...)

View the complete list with 39 more genes
Specificity
2 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

OMIM ORPHANET Rare Disease Symptoms Checker

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