Literature DB >> 30719685

A Novel Recessive Mutation of Interferon-γ Receptor 1 in a Patient with Mycobacterium tuberculosis in Bone Marrow Aspirate.

Mahsima Shabani1,2, Soheila Aleyasin3, Sara Kashef4, Samaneh Zoghi5,6,7, Caroline Deswarte8,9, Jean-Laurent Casanova8,9,10,11,12, Jacinta Bustamante8,9,12,13, Nima Rezaei14,15,16.   

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Year:  2019        PMID： 30719685     DOI： 10.1007/s10875-019-00595-7

Source DB:  PubMed          Journal:  J Clin Immunol        ISSN： 0271-9142            Impact factor:   8.317


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  7 in total

1.  Hemophagocytic lymphohistiocytosis in 2 patients with underlying IFN-γ receptor deficiency.

Authors:  Bianca Tesi; Elena Sieni; Conceição Neves; Francesca Romano; Valentina Cetica; Ana Isabel Cordeiro; Samuel Chiang; Heinrich Schlums; Luisa Galli; Stefano Avenali; Annalisa Tondo; Clementina Canessa; Jan-Inge Henter; Magnus Nordenskjöld; Amy P Hsu; Steven M Holland; João F Neves; Chiara Azzari; Yenan T Bryceson
Journal:  J Allergy Clin Immunol       Date:  2015-01-13       Impact factor: 10.793

Review 2.  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

3.  Clinical features of dominant and recessive interferon gamma receptor 1 deficiencies.

Authors:  Susan E Dorman; Capucine Picard; David Lammas; Klaus Heyne; Jaap T van Dissel; Richard Baretto; Sergio D Rosenzweig; Melanie Newport; Michael Levin; Joachim Roesler; Dinakantha Kumararatne; Jean-Laurent Casanova; Steven M Holland
Journal:  Lancet       Date:  2004 Dec 11-17       Impact factor: 79.321

4.  High levels of interferon gamma in the plasma of children with complete interferon gamma receptor deficiency.

Authors:  C Fieschi; S Dupuis; C Picard; C I Smith; S M Holland; J L Casanova
Journal:  Pediatrics       Date:  2001-04       Impact factor: 7.124

Review 5.  Hemophagocytic Lymphohistiocytosis in Children: Pathogenesis and Treatment.

Authors:  Eiichi Ishii
Journal:  Front Pediatr       Date:  2016-05-13       Impact factor: 3.418

6.  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

7.  Multifocal Recurrent Osteomyelitis and Hemophagocytic Lymphohistiocytosis in a Boy with Partial Dominant IFN-γR1 Deficiency: Case Report and Review of the Literature.

Authors:  Aidé Tamara Staines-Boone; Caroline Deswarte; Edna Venegas Montoya; Luz María Sánchez-Sánchez; Jorge Alberto García Campos; Teodoro Muñiz-Ronquillo; Jacinta Bustamante; Francisco J Espinosa-Rosales; Saul Oswaldo Lugo Reyes
Journal:  Front Pediatr       Date:  2017-05-03       Impact factor: 3.418
  7 in total
  5 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

2.  Inherited human IFN-γ deficiency underlies mycobacterial disease.

Authors:  Gaspard Kerner; Jérémie Rosain; Antoine Guérin; Ahmad Al-Khabaz; Carmen Oleaga-Quintas; Franck Rapaport; Michel J Massaad; Jing-Ya Ding; Taushif Khan; Fatima Al Ali; Mahbuba Rahman; Caroline Deswarte; Rubén Martinez-Barricarte; Raif S Geha; Valentine Jeanne-Julien; Diane Garcia; Chih-Yu Chi; Rui Yang; Manon Roynard; Bernhard Fleckenstein; Flore Rozenberg; Stéphanie Boisson-Dupuis; Cheng-Lung Ku; Yoann Seeleuthner; Vivien Béziat; Nico Marr; Laurent Abel; Waleed Al-Herz; Jean-Laurent Casanova; Jacinta Bustamante
Journal:  J Clin Invest       Date:  2020-06-01       Impact factor: 14.808

Review 3.  Mendelian susceptibility to mycobacterial disease: recent discoveries.

Authors:  Jacinta Bustamante
Journal:  Hum Genet       Date:  2020-02-05       Impact factor: 4.132

4.  LINE-1-Mediated AluYa5 Insertion Underlying Complete Autosomal Recessive IFN-γR1 Deficiency.

Authors:  Jérémie Rosain; Caroline Deswarte; Gonca Hancioglu; Carmen Oleaga-Quintas; Seyhan Kutlug; Ibrahim Kartal; Isinsu Kuzu; Laurie Toullec; Maud Tusseau; Jean-Laurent Casanova; Alisan Yildiran; Jacinta Bustamante
Journal:  J Clin Immunol       Date:  2019-08-03       Impact factor: 8.317

5.  Complete IFN-γR1 Deficiency in a Boy Due to UPD(6)mat with IFNGR1 Novel Splicing Variant.

Authors:  Ping Zhang; Wenjing Ying; Bingbing Wu; Renchao Liu; Huijun Wang; Xiaochuan Wang; Yulan Lu
Journal:  J Clin Immunol       Date:  2021-01-27       Impact factor: 8.317
  5 in total

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