IFNGR1 gene related symptoms and diseases

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

SOURCES: OMIM MESH

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).

SOURCES: ORPHANET MESH

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

SOURCES: OMIM

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

SOURCES: OMIM

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

SOURCES: OMIM

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

SOURCES: OMIM ORPHANET

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).

SOURCES: ORPHANET