IFNGR2 gene related symptoms and diseases

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

SOURCES: OMIM

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).

SOURCES: ORPHANET

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).

SOURCES: ORPHANET

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).

SOURCES: ORPHANET