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

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

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).

Genes related to Autosomal Dominant Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Ifngammar1 Deficiency

IFNGR1

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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.

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 Panel complete gene list STAT1, TAZ, TCIRG1, TCN2, TERT, WAS, WIPF1, ACTB, VPS45, HPS3, HPS4, HAX1, HPS5, DTNBP1, CEBPE, HPS6, SBDS, SLC35C1, BLOC1S3, VPS13B, FERMT3, CSF2RA, CSF3R, G6PC3, CTSC, CXCR4, CYBA, CYBB, USB1, JAGN1, MLPH, DNM2, LAMTOR2, SLC46A1, ELANE, FCGR3B, FPR1, ACKR1, ISG15, SLC37A4, GATA1, GATA2, GFI1, HFE, HPS1, IRF8, IFNGR1, IFNGR2, AP3B1, IL12B, IL12RB1, ITGB2, MPO, MYO5A, NCF1, NCF2, NCF4, RAB27A, RAC2 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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