IFNGR1 gene related symptoms and diseases

All the information presented here about the IFNGR1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,ORPHANET,HGNC,NCBIGENE, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to IFNGR1 gene

Symptoms // Phenotype % Cases
Pain Uncommon - Between 30% and 50% cases
Fever Uncommon - Between 30% and 50% cases
Immunodeficiency Uncommon - Between 30% and 50% cases
Night sweats Rare - less than 30% cases
Chronic infection Rare - less than 30% cases

Other less frequent symptoms and clinical features

Patients with IFNGR1 gene alterations may also develop some of the following symptoms and phenotypes:
  • Rarely - Less than 30% cases

  • Pneumonia
  • Splenomegaly
  • Salmonella osteomyelitis
  • Weight loss
  • Fulminant hepatitis
  • Nausea
  • Hepatomegaly
  • Generalized lymphadenopathy

And 39 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to IFNGR1 gene

Here you will find a list of rare diseases related to the IFNGR1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO


Description

Mycobacterium tuberculosis latently infects approximately one-third of humanity and is comparable only to human immunodeficiency virus (HIV; see {609423}) as a leading infectious cause of mortality worldwide. Obstacles for controlling TB infection include lengthy treatment regimens of 6 to 9 months, drug resistance, lack of a highly efficacious vaccine, and incomplete understanding of the factors that control infectivity and disease progression. Although only 10% of individuals infected with M. tuberculosis develop active disease, the immune responses associated with TB susceptibility or resistance are not known. In addition, it is not known why some individuals have disseminated TB that spreads to the meninges and central nervous system, while most people have localized disease in the lungs. A number of studies suggest that host genetic factors influence susceptibility and resistance to TB (review by Berrington and Hawn, 2007).

Most common symptoms of MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO

  • Pain
  • Fever
  • Fatigue
  • Immunodeficiency
  • Weight loss


More info about MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO

SOURCES: OMIM MESH

MENDELIAN SUSCEPTIBILITY TO MYCOBACTERIAL DISEASES DUE TO COMPLETE IFNGAMMAR1 DEFICIENCY


Alternate names

MENDELIAN SUSCEPTIBILITY TO MYCOBACTERIAL DISEASES DUE TO COMPLETE IFNGAMMAR1 DEFICIENCY Is also known as msmd due to complete interferon gamma receptor 1 deficiency, mendelian susceptibility to mycobacterial diseases due to complete interferon gamma receptor 1 deficiency, msmd due to complete ifngammar1 deficiency

Description

Mendelian susceptibility to mycobacterial diseases (MSMD) due to complete interferon gamma receptor 1 (IFN-gammaR1) deficiency is a genetic variant of MSMD (see this term) characterized by a complete deficiency in IFN-gammaR1, leading to impaired IFN-gamma immunity 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 IFNGAMMAR1 DEFICIENCY

SOURCES: ORPHANET MESH

IMMUNODEFICIENCY 27A; IMD27A


Alternate names

IMMUNODEFICIENCY 27A; IMD27A Is also known as ifngr1 deficiency, autosomal recessive, immunodeficiency 27a, mycobacteriosis, autosomal recessive

Description

Immunodeficiency-27A results from autosomal recessive (AR) IFNGR1 deficiency. Patients with complete IFNGR1 deficiency have a severe clinical phenotype characterized by early and often fatal mycobacterial infections. bacillus Calmette-Guerin (BCG) and environmental mycobacteria are the most frequent pathogens, and infection typically begins before the age of 3 years. Plasma from patients with complete AR IFNGR1 deficiency usually contains large amounts of IFNG (OMIM ), and their cells do not respond to IFNG in vitro. In contrast, cells from patients with partial AR IFNGR1 deficiency, which is caused by a specific mutation in IFNGR1, retain residual responses to high IFNG concentrations. Patients with partial AR IFNGR1 deficiency are susceptible to BCG and environmental mycobacteria, but they have a milder clinical disease and better prognosis than patients with complete AR IFNGR1 deficiency. The clinical features of children with complete AR IFNGR1 deficiency are usually more severe than those in individuals with AD IFNGR1 deficiency (IMD27B), and mycobacterial infection often occurs earlier (mean age of 1.3 years vs 13.4 years), with patients having shorter mean disease-free survival. Salmonellosis is present in about 5% of patients with AR or AD IFNGR1 deficiency, and other infections have been reported in single patients (review by Al-Muhsen and Casanova, 2008).

Most common symptoms of IMMUNODEFICIENCY 27A; IMD27A

  • Anemia
  • Fever
  • Diarrhea
  • Splenomegaly
  • Immunodeficiency


More info about IMMUNODEFICIENCY 27A; IMD27A

SOURCES: OMIM

HELICOBACTER PYLORI INFECTION, SUSCEPTIBILITY TO


Description

Helicobacter pylori is a microaerophilic, gram-negative bacterium that colonizes the gastric mucosa of approximately 50% of the world's population, and is a primary pathogenic factor in benign and malignant gastroduodenal disease (Warren and Marshall, 1983; Blaser and Parsonnet, 1994). Tomb et al. (1997) reported the complete sequence of the circular genome of H. pylori. The 1,667,867-bp genome contains 1,590 predicted coding sequences (genes). Sequence analysis of these genes indicated that the organism has systems for motility, for scavenging iron, and for DNA restriction and modification. Its survival in acid conditions depends, in part, on its ability to establish a positive inside-membrane potential in low pH.

Most common symptoms of HELICOBACTER PYLORI INFECTION, SUSCEPTIBILITY TO

  • Helicobacter pylori infection


More info about HELICOBACTER PYLORI INFECTION, SUSCEPTIBILITY TO

SOURCES: OMIM

HEPATITIS B VIRUS, SUSCEPTIBILITY TO


Alternate names

HEPATITIS B VIRUS, SUSCEPTIBILITY TO Is also known as hbv, susceptibility to

Description

HBV is a DNA virus that enters the liver via the bloodstream, and replication occurs only in liver tissue. Transmission occurs by percutaneous or mucosal exposure to infected blood or other body fluids. Approximately one third of all cases of cirrhosis and half of all cases of hepatocellular carcinoma (HCC ) can be attributed to chronic HBV infection. Worldwide, 2 billion people have been infected with HBV, 360 million have chronic infection, and 600,000 die each year from HBV-related liver disease or HCC. However, there is marked geographic variability in HBV prevalence, with chronic infection affecting less than 2% of the populations of North America and western and northern Europe; between 2 and 7% of the populations of eastern and central Europe, the Amazon basin, the Middle East, and the Indian subcontinent; and more than 8% of the populations of Asia, sub-Saharan Africa, and the Pacific (Seeff and Hoofnagle, 2006; Shepard et al., 2006).

Most common symptoms of HEPATITIS B VIRUS, SUSCEPTIBILITY TO

  • Pain
  • Hepatomegaly
  • Fever
  • Vomiting
  • Splenomegaly


More info about HEPATITIS B VIRUS, SUSCEPTIBILITY TO

SOURCES: OMIM

AUTOSOMAL DOMINANT MENDELIAN SUSCEPTIBILITY TO MYCOBACTERIAL DISEASES DUE TO PARTIAL IFNGAMMAR1 DEFICIENCY


Alternate 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

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).

Most common symptoms of AUTOSOMAL DOMINANT MENDELIAN SUSCEPTIBILITY TO MYCOBACTERIAL DISEASES DUE TO PARTIAL IFNGAMMAR1 DEFICIENCY

  • Pain
  • Immunodeficiency
  • Pneumonia
  • Osteomyelitis
  • Hip pain


More info about AUTOSOMAL DOMINANT MENDELIAN SUSCEPTIBILITY TO MYCOBACTERIAL DISEASES DUE TO PARTIAL IFNGAMMAR1 DEFICIENCY

SOURCES: OMIM ORPHANET

AUTOSOMAL RECESSIVE MENDELIAN SUSCEPTIBILITY TO MYCOBACTERIAL DISEASES DUE TO PARTIAL IFNGAMMAR1 DEFICIENCY


Alternate names

AUTOSOMAL RECESSIVE MENDELIAN SUSCEPTIBILITY TO MYCOBACTERIAL DISEASES DUE TO PARTIAL IFNGAMMAR1 DEFICIENCY Is also known as autosomal recessive msmd due to partial interferon gamma receptor 1 deficiency, autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 1 deficiency, autosomal recessive msmd due to partial ifngammar1

Description

Autosomal recessive (AR) mendelian susceptibility to mycobacterial diseases (MSMD) due to partial IFN-gammaR1 deficiency is a genetic variant of MSMD (see this term) characterized by a partial deficiency in IFN-gammaR1, 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 IFNGAMMAR1 DEFICIENCY

SOURCES: ORPHANET


Potential gene panels for IFNGR1 gene

Interferon-gamma Receptor Deficiency: IFNGR1 (Full Gene Sequencing) Panel

Canada.

By Molecular Diagnostic Laboratory University of Alberta

This panel specifically test the IFNGR1 gene.

More info about this panel

Interferon-gamma Receptor Deficiency: IFNGR1 (Known Mutation) Panel

Canada.

By Molecular Diagnostic Laboratory University of Alberta

This panel specifically test the IFNGR1 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

IFNGR1 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 IFNGR1 gene.

More info about this panel

IFNGR1 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 IFNGR1 gene.

More info about this panel

Immunodeficiency 27A, mycobacteriosis AR (sequence analysis of IFNGR1 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the IFNGR1 gene.

More info about this panel

Mycobacterial infection, atypical, familial disseminated Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the IFNGR1 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

IFNGR1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the IFNGR1 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

Severe Combined Immunodeficiency Panel Panel

Finland.

By Blueprint Genetics Severe Combined Immunodeficiency Panel that also includes the following genes: RMRP BLM SH2D1A SMARCAL1 STAT1 STAT2 STAT3 STAT5B STIM1 STK4

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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