IFNGR2 gene related symptoms and diseases

All the information presented here about the IFNGR2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,OMIM,HGNC,ORPHANET, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to IFNGR2 gene

Symptoms // Phenotype % Cases
Immunodeficiency Rare - less than 30% cases
Recurrent mycobacterial infections Rare - less than 30% cases

Rare diseases associated to IFNGR2 gene

Here you will find a list of rare diseases related to the IFNGR2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


IMMUNODEFICIENCY 28; IMD28


Alternate names

IMMUNODEFICIENCY 28; IMD28 Is also known as ifngr2 deficiency, immunodeficiency 28, mycobacteriosis

Description

IMD28 is caused by autosomal recessive (AR) IFNGR2 deficiency, a rare molecular cause of susceptibility to mycobacterial disease. The clinical presentation of complete AR IFNGR2 deficiency resembles that of complete IFNGR1 deficiency (IMD27A ). The disease manifests early in life, with severe, often fatal, infection. The most commonly encountered pathogens include M. bovis bacillus Calmette-Guerin (BCG), M. avium, and M. fortuitum. Complete AR IFNGR2 deficiency is characterized by an undetectable cellular response to interferon-gamma (IFNG ). There is also a rare, partial form of AR IFNGR2 deficiency, reported in 1 child, who retained a residual cellular response to IFNG and presented with a relatively mild infection by M. bovis BCG and M. abscessus (review by Al-Muhsen and Casanova, 2008).

Most common symptoms of IMMUNODEFICIENCY 28; IMD28

  • Immunodeficiency
  • Recurrent mycobacterial infections


More info about IMMUNODEFICIENCY 28; IMD28

SOURCES: OMIM

MENDELIAN SUSCEPTIBILITY TO MYCOBACTERIAL DISEASES DUE TO COMPLETE IFNGAMMAR2 DEFICIENCY


Alternate names

MENDELIAN SUSCEPTIBILITY TO MYCOBACTERIAL DISEASES DUE TO COMPLETE IFNGAMMAR2 DEFICIENCY Is also known as msmd due to complete interferon gamma receptor 2 deficiency, msmd due to complete ifngammar2 deficiency, mendelian susceptibility to mycobacterial diseases due to complete interferon gamma receptor 2 deficiency

Description

Mendelian susceptibily to mycobacterial diseases (MSMD) due to complete interferon gamma receptor 2 (IFN-gammaR2) deficiency is a genetic variant of MSMD (see this term) characterized by a complete deficiency in IFN-gammaR2, leading to an undetectable response to IFN-gamma, and consequently, to severe and often fatal infections with bacillus Calmette-Guérin (BCG) and other environmental mycobacteria (EM).


More info about MENDELIAN SUSCEPTIBILITY TO MYCOBACTERIAL DISEASES DUE TO COMPLETE IFNGAMMAR2 DEFICIENCY

SOURCES: ORPHANET

AUTOSOMAL RECESSIVE MENDELIAN SUSCEPTIBILITY TO MYCOBACTERIAL DISEASES DUE TO PARTIAL IFNGAMMAR2 DEFICIENCY


Alternate names

AUTOSOMAL RECESSIVE MENDELIAN SUSCEPTIBILITY TO MYCOBACTERIAL DISEASES DUE TO PARTIAL IFNGAMMAR2 DEFICIENCY Is also known as autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 2 deficiency, autosomal recessive msmd due to partial ifngammar2 deficiency, autosomal recessive msmd due to partial interferon gamma receptor 2

Description

Autosomal recessive mendelian susceptibility to mycobacterial diseases (MSMD) due to partial IFNgammaR2 deficiency is a genetic variant of MSMD (see this term) characterized by a partial deficiency in IFN-gammaR2, leading to a residual response to IFN-gamma and consequently to recurrent, moderately severe infections with bacillus Calmette-Guérin (BCG) and other environmental mycobacteria (EM).


More info about AUTOSOMAL RECESSIVE MENDELIAN SUSCEPTIBILITY TO MYCOBACTERIAL DISEASES DUE TO PARTIAL IFNGAMMAR2 DEFICIENCY

SOURCES: ORPHANET

AUTOSOMAL DOMINANT MENDELIAN SUSCEPTIBILITY TO MYCOBACTERIAL DISEASES DUE TO PARTIAL IFNGAMMAR2 DEFICIENCY


Alternate names

AUTOSOMAL DOMINANT MENDELIAN SUSCEPTIBILITY TO MYCOBACTERIAL DISEASES DUE TO PARTIAL IFNGAMMAR2 DEFICIENCY Is also known as autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 2 deficiency, autosomal dominant msmd due to partial ifngammar2 deficiency, autosomal dominant msmd due to partial interferon gamma receptor 2 def

Description

Autosomal dominant (AD) mendelian susceptibility to mycobacterial diseases (MSMD) due to partial interferon gamma receptor 2 (IFN-gammaR2) deficiency is a genetic variant of MSMD (see this term) 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-Guérin (BCG) and other environmental mycobacteria (EM).


More info about AUTOSOMAL DOMINANT MENDELIAN SUSCEPTIBILITY TO MYCOBACTERIAL DISEASES DUE TO PARTIAL IFNGAMMAR2 DEFICIENCY

SOURCES: ORPHANET


Potential gene panels for IFNGR2 gene

Interferon-gamma Receptor Deficiency: IFNGR2 (Full Gene Sequencing) Panel

Canada.

By Molecular Diagnostic Laboratory University of Alberta

This panel specifically test the IFNGR2 gene.

More info about this panel

Interferon-gamma Receptor Deficiency: IFNGR2 (Known Mutation) Panel

Canada.

By Molecular Diagnostic Laboratory University of Alberta

This panel specifically test the IFNGR2 gene.

More info about this panel

Interferon-gamma Receptor Deficiency: Two-gene Profile (IFNGR1, IFNGR2) (Full Gene Sequencing) Panel

Canada.

By Molecular Diagnostic Laboratory University of Alberta Interferon-gamma Receptor Deficiency: Two-gene Profile (IFNGR1, IFNGR2) (Full Gene Sequencing) that also includes the following genes: IFNGR1 IFNGR2

More info about this panel

IFNGR2 Sequencing Panel

United States.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center

This panel specifically test the IFNGR2 gene.

More info about this panel

IFNGR2 Deletion/duplication analysis Panel

United States.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center

This panel specifically test the IFNGR2 gene.

More info about this panel

Immunodeficiency 28, mycobacteriosis (sequence analysis of IFNGR2 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the IFNGR2 gene.

More info about this panel

Defects of phagocytosis Panel Panel

Germany.

By CeGaT GmbH Defects of phagocytosis Panel that also includes the following genes: STAT1 TAZ TCIRG1 TCN2 TERT WAS WIPF1 ACTB VPS45 HPS3

More info about this panel

Invitae Mendelian Susceptibility to Mycobacterial Disease Panel Panel

United States.

By Invitae Invitae Mendelian Susceptibility to Mycobacterial Disease Panel that also includes the following genes: STAT1 STAT2 ACP5 TYK2 SAMHD1 IRAK4 ADAR CYBB ISG15 GATA2

More info about this panel

Invitae Primary Immunodeficiency Panel Panel

United States.

By Invitae Invitae Primary Immunodeficiency Panel that also includes the following genes: RMRP RORC SEMA3E SH2D1A SH3BP2 SLC7A7 SMARCAL1 BTK STAT1 STAT2

More info about this panel

IFNGR2 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the IFNGR2 gene.

More info about this panel

Primary Immunodeficiency Panel Panel

Finland.

By Blueprint Genetics Primary Immunodeficiency Panel that also includes the following genes: RMRP RORC CFB BLM SH2D1A SLC7A7 SMARCAL1 SMARCD2 SRP72 BTK

More info about this panel

Comprehensive Hematology Panel Panel

Finland.

By Blueprint Genetics Comprehensive Hematology Panel that also includes the following genes: RHAG RIT1 RPL11 RPL15 RPL35A RPL5 RPS10 RPS19 RPS24 RPS26

More info about this panel

Bone Marrow Failure Syndrome Panel Panel

Finland.

By Blueprint Genetics Bone Marrow Failure Syndrome Panel that also includes the following genes: RIT1 RPL11 RPL15 RPL35A RPL5 RPS10 RPS19 RPS24 RPS26 RPS29

More info about this panel

Congenital Neutropenia Panel Panel

Finland.

By Blueprint Genetics Congenital Neutropenia Panel that also includes the following genes: SMARCD2 SRP72 WAS WDR1 ACTB MRTFA VPS45 HAX1 SBDS LYST

More info about this panel

Tempus xT assay Panel

United States.

By Tempus Labs, Inc. Tempus xT assay that also includes the following genes: BCL6 RIT1 BCL7A BCR ROS1 RPL5 RPS15 RPS6KB1 RUNX1 RXRA

More info about this panel


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