Literature DB >> 16867158

Novel mutation in the interferon-gamma-receptor gene and susceptibility to mycobacterial infections.

M Storgaard1, K Varming, T Herlin, N Obel.   

Abstract

In 1981 we presented a patient with Mycobacterium intracellulare osteomyelitis and depressed monocyte cytotoxicity. It is now demonstrated that the molecular defect was a never-before-described nucleotide deletion at position 794 (794delT) in the interferon-gamma-receptor alpha-1 gene. The genetic defect was passed on to his daughter who was diagnosed with non-tuberculous mycobacterial osteomyelitis at the age of 7 years.

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Year:  2006        PMID： 16867158     DOI： 10.1111/j.1365-3083.2006.01775.x

Source DB:  PubMed          Journal:  Scand J Immunol        ISSN： 0300-9475            Impact factor:   3.487


  13 in total

1.  Genetic and environmental influences on risk of death due to infections assessed in Danish twins, 1943-2001.

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Review 3.  Mendelian susceptibility to mycobacterial disease: genetic, immunological, and clinical features of inborn errors of IFN-γ immunity.

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Review 4.  Paternal uniparental isodisomy of chromosome 6 causing a complex syndrome including complete IFN-gamma receptor 1 deficiency.

Authors:  Carolina Prando; Stéphanie Boisson-Dupuis; Audrey V Grant; Xiao-Fei Kong; Jacinta Bustamante; Jacqueline Feinberg; Ariane Chapgier; Yoann Rose; Lucile Jannière; Elena Rizzardi; Qiuping Zhang; Catherine M Shanahan; Louis Viollet; Stanislas Lyonnet; Laurent Abel; Ezia Maria Ruga; Jean-Laurent Casanova
Journal:  Am J Med Genet A       Date:  2010-03       Impact factor: 2.802

Review 5.  Intact IFN-γR1 expression and function distinguishes Langerhans cell histiocytosis from mendelian susceptibility to mycobacterial disease.

Authors:  Willemijn T Quispel; Janine A Stegehuis-Kamp; Susy J Santos; Annelies van Wengen; Edward Dompeling; R Maarten Egeler; Esther van de Vosse; Astrid G S van Halteren
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Review 6.  Laboratory evaluation of the IFN-γ circuit for the molecular diagnosis of Mendelian susceptibility to mycobacterial disease.

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Review 7.  Molecular immunity to mycobacteria: knowledge from the mutation and phenotype spectrum analysis of Mendelian susceptibility to mycobacterial diseases.

Authors:  Hui-Qi Qu; Susan P Fisher-Hoch; Joseph B McCormick
Journal:  Int J Infect Dis       Date:  2011-02-16       Impact factor: 3.623

8.  A novel form of cell type-specific partial IFN-gammaR1 deficiency caused by a germ line mutation of the IFNGR1 initiation codon.

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Journal:  Hum Mol Genet       Date:  2009-10-31       Impact factor: 6.150

Review 9.  Clinical implications of interferon-γ genetic and epigenetic variants.

Authors:  Nicola L D Smith; David W Denning
Journal:  Immunology       Date:  2014-12       Impact factor: 7.397

10.  Non-tuberculous mycobacterial osteomyelitis: an unusual cause of hip pain in immunocompetent children.

Authors:  Luciana Breda; Giuseppina de Michele; Manuela Nozzi; Sara De Sanctis; Daniele Di Marzio; Francesco Chiarelli
Journal:  Rheumatol Int       Date:  2009-01-21       Impact factor: 2.631
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