Literature DB >> 16715106

Successful hematopoietic stem cell transplantation in a child with active disseminated Mycobacterium fortuitum infection and interferon-gamma receptor 1 deficiency.

C F Chantrain, A Bruwier, B Brichard, V Largent, A Chapgier, J Feinberg, J-L Casanova, J-P Stalens, C Vermylen.   

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Year:  2006        PMID： 16715106     DOI： 10.1038/sj.bmt.1705399

Source DB:  PubMed          Journal:  Bone Marrow Transplant        ISSN： 0268-3369            Impact factor:   5.483


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  15 in total

1.  Disseminated Mycobacterium Avium Infection in a Child with Complete Interferon-γ Receptor 1 Deficiency due to Compound Heterozygosis of IFNGR1 for a Subpolymorphic Copy Number Variation and a Novel Splice-Site Variant.

Authors:  Grazia Bossi; Edoardo Errichiello; Orsetta Zuffardi; Piero Marone; Vincenzina Monzillo; Daniela Barbarini; Antonio Vergori; Lorenzo Andrea Bassi; Gaetana Anna Rispoli; Mara De Amici; Marco Zecca
Journal:  J Pediatr Genet       Date:  2019-11-04

Review 2.  Diagnostic and therapeutic challenges in a child with complete interferon-γ receptor 1 deficiency.

Authors:  Peter Olbrich; Maria Teresa Martínez-Saavedra; José Maria Perez-Hurtado; Cristina Sanchez; Berta Sanchez; Caroline Deswarte; Ignacio Obando; Jean-Laurent Casanova; Carsten Speckmann; Jacinta Bustamante; Carlos Rodriguez-Gallego; Olaf Neth
Journal:  Pediatr Blood Cancer       Date:  2015-07-14       Impact factor: 3.167

3.  Partial recessive IFN-γR1 deficiency: genetic, immunological and clinical features of 14 patients from 11 kindreds.

Authors:  Ithaisa Sologuren; Stéphanie Boisson-Dupuis; Jose Pestano; Quentin Benoit Vincent; Leandro Fernández-Pérez; Ariane Chapgier; María Cárdenes; Jacqueline Feinberg; M Isabel García-Laorden; Capucine Picard; Esther Santiago; Xiaofei Kong; Lucile Jannière; Elena Colino; Estefanía Herrera-Ramos; Adela Francés; Carmen Navarrete; Stéphane Blanche; Emilia Faria; Pawel Remiszewski; Ana Cordeiro; Alexandra Freeman; Steven Holland; Katia Abarca; Mónica Valerón-Lemaur; José Gonçalo-Marques; Luisa Silveira; José Manuel García-Castellano; José Caminero; José Luis Pérez-Arellano; Jacinta Bustamante; Laurent Abel; Jean-Laurent Casanova; Carlos Rodríguez-Gallego
Journal:  Hum Mol Genet       Date:  2011-01-25       Impact factor: 6.150

Review 4.  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 5.  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 6.  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

7.  Adjunctive treatment of disseminated Mycobacterium avium complex infection with interferon alpha-2b in a patient with complete interferon-gamma receptor R1 deficiency.

Authors:  Carla M Ward; Harumi Jyonouchi; Sergei V Kotenko; Sergey V Smirnov; Rakesh Patel; Helen Aguila; George McSherry; Barry Dashefsky; Steven M Holland
Journal:  Eur J Pediatr       Date:  2006-11-21       Impact factor: 3.183

8.  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

9.  Partial IFN-γR2 deficiency is due to protein misfolding and can be rescued by inhibitors of glycosylation.

Authors:  Marcela Moncada-Vélez; Rubén Martinez-Barricarte; Dusan Bogunovic; Xiao-Fei Kong; Lizbeth Blancas-Galicia; Cengiz Tirpan; Guzide Aksu; Quentin B Vincent; Bertrand Boisson; Yuval Itan; Noé Ramírez-Alejo; Satoshi Okada; Alexandra Y Kreins; Vanessa L Bryant; Jose Luis Franco; Mélanie Migaud; Sara Espinosa-Padilla; Marco Yamazaki-Nakashimada; Francisco Espinosa-Rosales; Necil Kutukculer; Laurent Abel; Jacinta Bustamante; Guillaume Vogt; Jean-Laurent Casanova; Stéphanie Boisson-Dupuis
Journal:  Blood       Date:  2013-08-20       Impact factor: 22.113

10.  IFN-gamma mediates the rejection of haematopoietic stem cells in IFN-gammaR1-deficient hosts.

Authors:  Martin Rottman; Claire Soudais; Guillaume Vogt; Laurent Renia; Jean-François Emile; Hélène Decaluwe; Jean-Louis Gaillard; Jean-Laurent Casanova
Journal:  PLoS Med       Date:  2008-01-29       Impact factor: 11.069
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