Literature DB >> 31980906

The genetic basis of pneumococcal and staphylococcal infections: inborn errors of human TLR and IL-1R immunity.

Bertrand Boisson1,2,3.   

Abstract

Many bacteria can cause pyogenic lesions in humans. Most of these bacteria are harmless in most individuals, but they, nevertheless, cause significant morbidity and mortality worldwide. The inherited and acquired immunodeficiencies underlying these pyogenic infections differ between bacteria. This short review focuses on two emblematic pyogenic bacteria: pneumococcus (Streptococcus pneumoniae) and Staphylococcus, both of which are Gram-positive encapsulated bacteria. We will discuss the contribution of human genetic studies to the identification of germline mutations of the TLR and IL-1R pathways.

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Year:  2020        PMID: 31980906      PMCID: PMC7275878          DOI: 10.1007/s00439-020-02111-z

Source DB:  PubMed          Journal:  Hum Genet        ISSN: 0340-6717            Impact factor:   4.132


  106 in total

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Authors:  Matthew S Hayden; Sankar Ghosh
Journal:  Genes Dev       Date:  2012-02-01       Impact factor: 11.361

2.  Dominant-negative mutations in the DNA-binding domain of STAT3 cause hyper-IgE syndrome.

Authors:  Yoshiyuki Minegishi; Masako Saito; Shigeru Tsuchiya; Ikuya Tsuge; Hidetoshi Takada; Toshiro Hara; Nobuaki Kawamura; Tadashi Ariga; Srdjan Pasic; Oliver Stojkovic; Ayse Metin; Hajime Karasuyama
Journal:  Nature       Date:  2007-08-05       Impact factor: 49.962

3.  Clinical features and outcome of patients with IRAK-4 and MyD88 deficiency.

Authors:  Capucine Picard; Horst von Bernuth; Pegah Ghandil; Maya Chrabieh; Ofer Levy; Peter D Arkwright; Douglas McDonald; Raif S Geha; Hidetoshi Takada; Jens C Krause; C Buddy Creech; Cheng-Lung Ku; Stephan Ehl; László Maródi; Saleh Al-Muhsen; Sami Al-Hajjar; Abdulaziz Al-Ghonaium; Noorbibi K Day-Good; Steven M Holland; John I Gallin; Helen Chapel; David P Speert; Carlos Rodriguez-Gallego; Elena Colino; Ben-Zion Garty; Chaim Roifman; Toshiro Hara; Hideto Yoshikawa; Shigeaki Nonoyama; Joseph Domachowske; Andrew C Issekutz; Mimi Tang; Joanne Smart; Simona Eva Zitnik; Cyrille Hoarau; Dinakantha S Kumararatne; Adrian J Thrasher; E Graham Davies; Claire Bethune; Nicolas Sirvent; Dominique de Ricaud; Yildiz Camcioglu; Júlia Vasconcelos; Margarida Guedes; Artur Bonito Vitor; Carlos Rodrigo; Francisco Almazán; Maria Méndez; Juan Ignacio Aróstegui; Laia Alsina; Claudia Fortuny; Janine Reichenbach; James W Verbsky; Xavier Bossuyt; Rainer Doffinger; Laurent Abel; Anne Puel; Jean-Laurent Casanova
Journal:  Medicine (Baltimore)       Date:  2010-11       Impact factor: 1.889

4.  Polyglucosan body myopathy caused by defective ubiquitin ligase RBCK1.

Authors:  Johanna Nilsson; Benedikt Schoser; Pascal Laforet; Ognian Kalev; Christopher Lindberg; Norma B Romero; Marcela Dávila López; Hasan O Akman; Karim Wahbi; Stephan Iglseder; Christian Eggers; Andrew G Engel; Salvatore Dimauro; Anders Oldfors
Journal:  Ann Neurol       Date:  2013-12       Impact factor: 10.422

Review 5.  Mendelian traits that confer predisposition or resistance to specific infections in humans.

Authors:  Capucine Picard; Jean-Laurent Casanova; Laurent Abel
Journal:  Curr Opin Immunol       Date:  2006-06-12       Impact factor: 7.486

Review 6.  Current concepts in the pathogenesis of meningitis caused by Streptococcus pneumoniae.

Authors:  Damian N Meli; Stephan Christen; Stephen L Leib; Martin G Täuber
Journal:  Curr Opin Infect Dis       Date:  2002-06       Impact factor: 4.915

Review 7.  The role of nasal carriage in Staphylococcus aureus infections.

Authors:  Heiman F L Wertheim; Damian C Melles; Margreet C Vos; Willem van Leeuwen; Alex van Belkum; Henri A Verbrugh; Jan L Nouwen
Journal:  Lancet Infect Dis       Date:  2005-12       Impact factor: 25.071

8.  Paediatric, invasive pneumococcal disease in Switzerland, 1985-1994. Swiss Pneumococcal Study Group.

Authors:  I Venetz; K Schopfer; K Mühlemann
Journal:  Int J Epidemiol       Date:  1998-12       Impact factor: 7.196

Review 9.  Primary immunodeficiencies associated with pneumococcal disease.

Authors:  Capucine Picard; Anne Puel; Jacinta Bustamante; Cheng-Lung Ku; Jean-Laurent Casanova
Journal:  Curr Opin Allergy Clin Immunol       Date:  2003-12

10.  IRAK4 Deficiency in a Patient with Recurrent Pneumococcal Infections: Case Report and Review of the Literature.

Authors:  Karina Gobin; Mary Hintermeyer; Bertrand Boisson; Maya Chrabieh; Pegah Ghandil; Anne Puel; Capucine Picard; Jean-Laurent Casanova; John Routes; James Verbsky
Journal:  Front Pediatr       Date:  2017-04-28       Impact factor: 3.418

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  5 in total

1.  X-linked recessive TLR7 deficiency in ~1% of men under 60 years old with life-threatening COVID-19.

Authors:  Takaki Asano; Bertrand Boisson; Fanny Onodi; Daniela Matuozzo; Marcela Moncada-Velez; Majistor Raj Luxman Maglorius Renkilaraj; Peng Zhang; Laurent Meertens; Alexandre Bolze; Marie Materna; Richard P Lifton; Paul Bastard; Luigi D Notarangelo; Laurent Abel; Helen C Su; Emmanuelle Jouanguy; Ali Amara; Vassili Soumelis; Aurélie Cobat; Qian Zhang; Jean-Laurent Casanova; Sarantis Korniotis; Adrian Gervais; Estelle Talouarn; Benedetta Bigio; Yoann Seeleuthner; Kaya Bilguvar; Yu Zhang; Anna-Lena Neehus; Masato Ogishi; Simon J Pelham; Tom Le Voyer; Jérémie Rosain; Quentin Philippot; Pere Soler-Palacín; Roger Colobran; Andrea Martin-Nalda; Jacques G Rivière; Yacine Tandjaoui-Lambiotte; Khalil Chaïbi; Mohammad Shahrooei; Ilad Alavi Darazam; Nasrin Alipour Olyaei; Davood Mansouri; Nevin Hatipoğlu; Figen Palabiyik; Tayfun Ozcelik; Giuseppe Novelli; Antonio Novelli; Giorgio Casari; Alessandro Aiuti; Paola Carrera; Simone Bondesan; Federica Barzaghi; Patrizia Rovere-Querini; Cristina Tresoldi; Jose Luis Franco; Julian Rojas; Luis Felipe Reyes; Ingrid G Bustos; Andres Augusto Arias; Guillaume Morelle; Kyheng Christèle; Jesús Troya; Laura Planas-Serra; Agatha Schlüter; Marta Gut; Aurora Pujol; Luis M Allende; Carlos Rodriguez-Gallego; Carlos Flores; Oscar Cabrera-Marante; Daniel E Pleguezuelo; Rebeca Pérez de Diego; Sevgi Keles; Gokhan Aytekin; Ozge Metin Akcan; Yenan T Bryceson; Peter Bergman; Petter Brodin; Daniel Smole; C I Edvard Smith; Anna-Carin Norlin; Tessa M Campbell; Laura E Covill; Lennart Hammarström; Qiang Pan-Hammarström; Hassan Abolhassani; Shrikant Mane; Nico Marr; Manar Ata; Fatima Al Ali; Taushif Khan; András N Spaan; Clifton L Dalgard; Paolo Bonfanti; Andrea Biondi; Sarah Tubiana; Charles Burdet; Robert Nussbaum; Amanda Kahn-Kirby; Andrew L Snow; Jacinta Bustamante; Anne Puel; Stéphanie Boisson-Dupuis; Shen-Ying Zhang; Vivien Béziat
Journal:  Sci Immunol       Date:  2021-08-19

2.  Human OTULIN haploinsufficiency impairs cell-intrinsic immunity to staphylococcal α-toxin.

Authors:  Anna-Lena Neehus; Emmanuel Laplantine; Frederik Staels; Masato Ogishi; Yoann Seeleuthner; Franck Rapaport; Stéphanie Humblet-Baron; Adrian Liston; Laurent Abel; Bertrand Boisson; Jean-Laurent Casanova; András N Spaan; Keenan A Lacey; Erika Van Nieuwenhove; Maya Chrabieh; David Hum; Mélanie Migaud; Araksya Izmiryan; Lazaro Lorenzo; Tatiana Kochetkov; Dani A C Heesterbeek; Bart W Bardoel; Ashley L DuMont; Kerry Dobbs; Solenne Chardonnet; Søren Heissel; Timour Baslan; Peng Zhang; Rui Yang; Dusan Bogunovic; Herman F Wunderink; Pieter-Jan A Haas; Henrik Molina; Griet Van Buggenhout; Stanislas Lyonnet; Luigi D Notarangelo; Mikko R J Seppänen; Robert Weil; Gisela Seminario; Héctor Gomez-Tello; Carine Wouters; Mehrnaz Mesdaghi; Mohammad Shahrooei; Xavier Bossuyt; Erdal Sag; Rezan Topaloglu; Seza Ozen; Helen L Leavis; Maarten M J van Eijk; Liliana Bezrodnik; Lizbeth Blancas Galicia; Alain Hovnanian; Aude Nassif; Brigitte Bader-Meunier; Bénédicte Neven; Isabelle Meyts; Rik Schrijvers; Anne Puel; Jacinta Bustamante; Ivona Aksentijevich; Daniel L Kastner; Victor J Torres
Journal:  Science       Date:  2022-06-17       Impact factor: 63.714

3.  Inherited IRAK-4 Deficiency in Acute Human Herpesvirus-6 Encephalitis.

Authors:  Zeynep Güneş Tepe; Yılmaz Yücehan Yazıcı; Umut Tank; Ladin Işık Köse; Murat Özer; Caner Aytekin; Serkan Belkaya
Journal:  J Clin Immunol       Date:  2022-10-07       Impact factor: 8.542

Review 4.  Lethal Infectious Diseases as Inborn Errors of Immunity: Toward a Synthesis of the Germ and Genetic Theories.

Authors:  Jean-Laurent Casanova; Laurent Abel
Journal:  Annu Rev Pathol       Date:  2020-04-14       Impact factor: 23.472

5.  The human genetic determinism of life-threatening infectious diseases: genetic heterogeneity and physiological homogeneity?

Authors:  Jean-Laurent Casanova; Laurent Abel
Journal:  Hum Genet       Date:  2020-06       Impact factor: 4.132

  5 in total

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