A Mutation in the Interferon-γ –Receptor Gene and Susceptibility to Mycobacterial Infection

Newport, Melanie J.; Huxley, Clare; Huston, Sara L.; Hawrylowicz, Catherine M.; Oostra, Ben A.; Williamson, Robert; Levin, Michael

doi:10.1056/nejm199612263352602

Cited by 1,097 publications

(691 citation statements)

References 30 publications

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“…Studies in man have identified mutations in the gene IFNGR1 in Mendelian inheritance of susceptibility to disseminated atypical mycobacterial infection. 13 Results presented here suggest that polymorphism at IFNGR1 is associated with susceptibility to PKDL but not to underlying VL. Again, further work is required to verify this result and to identify the diseaseassociated mutation/polymorphism in this population.…”

Section: Discussionmentioning

confidence: 55%

Genetic susceptibility to visceral leishmaniasis in The Sudan: linkage and association with IL4 and IFNGR1

et al. 2003

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Longitudinal studies in Sudan show ethnic differences in incidence and clinical phenotypes associated with Leishmania donovani. Immunologically, bias in type 1 vs type 2 cytokine responses is important. To determine whether polymorphisms at IL4/IL9 or IFNGR1 contribute to susceptibility, we examined 59 multicase families of visceral leishmaniasis (VL) with/without post Kala-azar dermal leishmaniasis (PKDL). Multipoint nonparametric analysis (Allegro) linked IL4/IL9 to VL per se (P ¼ 0.002). Transmission disequilibrium testing with robust variance estimates confirmed association in the presence of linkage between VL per se and IL4 (P ¼ 0.008) but not IL9. Stepwise logistic regression analysis showed both IL4RP2 and IL4RP1 markers contributed significantly to the association, suggesting a common disease-associated haplotype. In contrast, IFNGR1 was linked (P ¼ 0.031) and associated (P ¼ 0.007) to PKDL but not VL or VL per se. Hence, polymorphism in a type 2 cytokine gene influences underlying susceptibility to VL, whereas IFNGR1 is specifically related to susceptibility to PKDL.

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Section: Discussionmentioning

confidence: 55%

Genetic susceptibility to visceral leishmaniasis in The Sudan: linkage and association with IL4 and IFNGR1

et al. 2003

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“…26,27 Individuals homozygous for the mutation have a greatly enhanced susceptibility to mycobacterial infection.…”

Section: Discussionmentioning

confidence: 99%

Variation in immune response genes and chronic Q fever. Concepts: preliminary test with post-Q fever fatigue syndrome

Helbig¹,

Heatley

Harris³

et al. 2003

Genes Immun

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Acute primary Q fever is followed by various chronic sequelae. These include subacute Q fever endocarditis, granulomatous reactions in various organs or a prolonged debilitating post-infection fatigue syndrome (QFS). The causative organism, Coxiella burnetii, persists after an initial infection. The differing chronic outcomes may reflect variations within cytokine and accessory immune control genes which affect regulation of the level of persistence. As a preliminary test of the concept we have genotyped QFS patients and controls for gene variants spanning 15 genes and also examined HLA-B and DR frequencies. QFS patients exhibited a significantly increased frequency of HLA-DR-11 compared with controls and also significant differences in allelic variant frequencies within the NRAMP, and IFNg genes. These results indicate a possible genetic role in the expression of overt chronic Q fever. Further studies will be undertaken to increase sample sizes, to survey other forms of chronic Q fever and to examine Q fever patients who have recovered without sequelae.

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“…Several Salmonella serotypes have been identified and include Salmonella Paratyphi 139,140 or non-typhoid Salmonella serotypes such as Salmonella Typhimurium, 140 Salmonella Enteritidis, 139,[141][142][143] Salmonella group B 139,140 or untyped Salmonella. 139,144,145 Host resistance loci identified using QTL analysis…”

Section: Cytokines: Tnf Ifng and Il12mentioning

confidence: 99%

Genetic regulation of host responses to Salmonella infection in mice

Malo

2002

Genes Immun

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Salmonella spp are Gram-negative bacteria capable of infecting a wide range of host species, including humans, domesticated and wild mammals, reptiles, birds and insects. The outcome of an encounter between Salmonella and its host is dependent upon multiple factors including the host genetic background. To facilitate the study of the genetic factors involved in resistance to this pathogen, mouse models of Salmonella infection have been developed and studied for years, allowing identification of several genes and pathways that may influence the disease outcome. In this review, we will cover some of the genes involved in mouse resistance to Salmonella that were identified through the study of congenic mouse strains, cloning of spontaneous mouse mutations, use of site-directed mutagenesis or quantitative trait loci analysis. In parallel, the relevant information pertaining to genes involved in resistance to Salmonella in humans will be discussed.

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A Mutation in the Interferon-γ –Receptor Gene and Susceptibility to Mycobacterial Infection

Cited by 1,097 publications

References 30 publications

Genetic susceptibility to visceral leishmaniasis in The Sudan: linkage and association with IL4 and IFNGR1

Genetic susceptibility to visceral leishmaniasis in The Sudan: linkage and association with IL4 and IFNGR1

Variation in immune response genes and chronic Q fever. Concepts: preliminary test with post-Q fever fatigue syndrome

Genetic regulation of host responses to Salmonella infection in mice

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