Literature DB >> 11335768

Recurrent Mycobacterium avium osteomyelitis associated with a novel dominant interferon gamma receptor mutation.

A Villella1, C Picard, E Jouanguy, S Dupuis, S Popko, N Abughali, H Meyerson, J L Casanova, R W Hostoffer.   

Abstract

Mycobacterium avium causes infections in immunocompromised individuals. Recurrent infection with this organism has been associated with a deletion at the 818 residue of the interferon-gamma receptor (IFN-gammaR). This mutation produces a truncated receptor without an intracytoplasmic tail, resulting in diminished signaling. We describe a substitution at the 832 residue of the IFN-gammaR causing a similar truncated receptor in a 7-year-old girl with recurrent M avium osteomyelitis.

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Year:  2001        PMID： 11335768     DOI： 10.1542/peds.107.4.e47

Source DB:  PubMed          Journal:  Pediatrics        ISSN： 0031-4005            Impact factor:   7.124


  11 in total

1.  A novel internalization motif regulates human IFN-γ R1 endocytosis.

Authors:  Judith Yancoski; Mohammed A Sadat; Nadia Aksentijevich; Andrea Bernasconi; Steven M Holland; Sergio D Rosenzweig
Journal:  J Leukoc Biol       Date:  2012-05-17       Impact factor: 4.962

2.  Inherited interleukin-12 deficiency: IL12B genotype and clinical phenotype of 13 patients from six kindreds.

Authors:  Capucine Picard; Claire Fieschi; Frédéric Altare; Suliman Al-Jumaah; Sami Al-Hajjar; Jacqueline Feinberg; Stéphanie Dupuis; Claire Soudais; Ibrahim Zaid Al-Mohsen; Emmanuelle Génin; David Lammas; Dinakantha S Kumararatne; Tony Leclerc; Arash Rafii; Husn Frayha; Belinda Murugasu; Lee Bee Wah; Raja Sinniah; Michael Loubser; Emi Okamoto; Abdulaziz Al-Ghonaium; Haysam Tufenkeji; Laurent Abel; Jean-Laurent Casanova
Journal:  Am J Hum Genet       Date:  2001-12-17       Impact factor: 11.025

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

Authors:  Jacinta Bustamante; Stéphanie Boisson-Dupuis; Laurent Abel; Jean-Laurent Casanova
Journal:  Semin Immunol       Date:  2014-10-26       Impact factor: 11.130

Review 4.  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
Journal:  J Clin Immunol       Date:  2013-11-20       Impact factor: 8.317

Review 5.  Laboratory evaluation of the IFN-γ circuit for the molecular diagnosis of Mendelian susceptibility to mycobacterial disease.

Authors:  Ana Esteve-Solé; Ithaisa Sologuren; María Teresa Martínez-Saavedra; Àngela Deyà-Martínez; Carmen Oleaga-Quintas; Rubén Martinez-Barricarte; Andrea Martin-Nalda; Manel Juan; Jean-Laurent Casanova; Carlos Rodriguez-Gallego; Laia Alsina; Jacinta Bustamante
Journal:  Crit Rev Clin Lab Sci       Date:  2018-03-04       Impact factor: 6.250

Review 6.  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

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

Authors:  Xiao-Fei Kong; Guillaume Vogt; Ariane Chapgier; Christophe Lamaze; Jacinta Bustamante; Carolina Prando; Anny Fortin; Anne Puel; Jacqueline Feinberg; Xin-Xin Zhang; Pauline Gonnord; Ulla M Pihkala-Saarinen; Mikko Arola; Petra Moilanen; Laurent Abel; Matti Korppi; Stéphanie Boisson-Dupuis; Jean-Laurent Casanova
Journal:  Hum Mol Genet       Date:  2009-10-31       Impact factor: 6.150

Review 8.  Heterogeneity in the granulomatous response to mycobacterial infection in patients with defined genetic mutations in the interleukin 12-dependent interferon-gamma production pathway.

Authors:  David A Lammas; E De Heer; J D Edgar; V Novelli; A Ben-Smith; R Baretto; P Drysdale; J Binch; C MacLennan; D S Kumararatne; S Panchalingam; T H M Ottenhoff; J-L Casanova; J F Emile
Journal:  Int J Exp Pathol       Date:  2002-02       Impact factor: 1.925

9.  The novel IFNGR1 mutation 774del4 produces a truncated form of interferon-gamma receptor 1 and has a dominant-negative effect on interferon-gamma signal transduction.

Authors:  Satoshi Okada; Nobutsune Ishikawa; Ken'ichiro Shirao; Hiroshi Kawaguchi; Miyuki Tsumura; Yoshinori Ohno; Shin'ichiro Yasunaga; Motoaki Ohtsubo; Yoshihiro Takihara; Masao Kobayashi
Journal:  J Med Genet       Date:  2007-05-18       Impact factor: 6.318

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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