Literature DB >> 16365144

Tuberculosis in children and adults: two distinct genetic diseases.

Alexandre Alcaïs1, Claire Fieschi, Laurent Abel, Jean-Laurent Casanova.   

Abstract

Disseminated disease in children and pulmonary disease in adults constitute two major epidemiological and clinical forms of tuberculosis. Paradoxically, only a small fraction of infected individuals develop clinical tuberculosis, typically one form of the disease or the other. Mendelian and complex genetic predispositions to tuberculosis were reported recently in children and adults, respectively. Here, we argue that tuberculosis and its clinical expression largely reflect the underlying human genetic background.

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Year:  2005        PMID： 16365144      PMCID： PMC2212964          DOI： 10.1084/jem.20052302

Source DB:  PubMed          Journal:  J Exp Med        ISSN： 0022-1007            Impact factor:   14.307


  23 in total

1.  Linkage of tuberculosis to chromosome 2q35 loci, including NRAMP1, in a large aboriginal Canadian family.

Authors:  C M Greenwood; T M Fujiwara; L J Boothroyd; M A Miller; D Frappier; E A Fanning; E Schurr; K Morgan
Journal:  Am J Hum Genet       Date:  2000-07-05       Impact factor: 11.025

2.  Genetic predisposition to clinical tuberculosis: bridging the gap between simple and complex inheritance.

Authors:  L Abel; J L Casanova
Journal:  Am J Hum Genet       Date:  2000-07-05       Impact factor: 11.025

3.  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

4.  Tuberculin skin testing to assess the occupational risk of Mycobacterium tuberculosis infection among health care workers in Abidjan, Côte d'Ivoire.

Authors:  S Kassim; P Zuber; S Z Wiktor; F V Diomande; I M Coulibaly; D Coulibaly; A Kadio; A Yapi; K C Touré; P B Blekou; B Irié; A E Greenberg; N J Binkin
Journal:  Int J Tuberc Lung Dis       Date:  2000-04       Impact factor: 2.373

5.  Genetic susceptibility to tuberculosis in Africans: a genome-wide scan.

Authors:  R Bellamy; N Beyers; K P McAdam; C Ruwende; R Gie; P Samaai; D Bester; M Meyer; T Corrah; M Collin; D R Camidge; D Wilkinson; E Hoal-Van Helden; H C Whittle; W Amos; P van Helden; A V Hill
Journal:  Proc Natl Acad Sci U S A       Date:  2000-07-05       Impact factor: 11.205

6.  Interleukin-12 receptor beta1 deficiency in a patient with abdominal tuberculosis.

Authors:  F Altare; A Ensser; A Breiman; J Reichenbach; J E Baghdadi; A Fischer; J F Emile; J L Gaillard; E Meinl; J L Casanova
Journal:  J Infect Dis       Date:  2001-06-14       Impact factor: 5.226

7.  Genetic basis of patients with bacille Calmette-Guérin osteomyelitis in Japan: identification of dominant partial interferon-gamma receptor 1 deficiency as a predominant type.

Authors:  Yuka Sasaki; Akihiko Nomura; Koichi Kusuhara; Hidetoshi Takada; Saifuddin Ahmed; Kaoru Obinata; Keisuke Hamada; Yuri Okimoto; Toshiro Hara
Journal:  J Infect Dis       Date:  2002-02-14       Impact factor: 5.226

Review 8.  Genetic dissection of immunity to mycobacteria: the human model.

Authors:  Jean-Laurent Casanova; Laurent Abel
Journal:  Annu Rev Immunol       Date:  2001-10-04       Impact factor: 28.527

9.  Alleles of the NRAMP1 gene are risk factors for pediatric tuberculosis disease.

Authors:  Suneil Malik; Laurent Abel; Heather Tooker; Audrey Poon; Leah Simkin; Manon Girard; Gerald J Adams; Jeffrey R Starke; Kimberly C Smith; Edward A Graviss; James M Musser; Erwin Schurr
Journal:  Proc Natl Acad Sci U S A       Date:  2005-08-15       Impact factor: 11.205

Review 10.  Inborn errors of immunity to infection: the rule rather than the exception.

Authors:  Jean-Laurent Casanova; Laurent Abel
Journal:  J Exp Med       Date:  2005-07-18       Impact factor: 14.307
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  86 in total

1.  Germline CYBB mutations that selectively affect macrophages in kindreds with X-linked predisposition to tuberculous mycobacterial disease.

Authors:  Jacinta Bustamante; Andres A Arias; Guillaume Vogt; Capucine Picard; Lizbeth Blancas Galicia; Carolina Prando; Audrey V Grant; Christophe C Marchal; Marjorie Hubeau; Ariane Chapgier; Ludovic de Beaucoudrey; Anne Puel; Jacqueline Feinberg; Ethan Valinetz; Lucile Jannière; Céline Besse; Anne Boland; Jean-Marie Brisseau; Stéphane Blanche; Olivier Lortholary; Claire Fieschi; Jean-François Emile; Stéphanie Boisson-Dupuis; Saleh Al-Muhsen; Bruce Woda; Peter E Newburger; Antonio Condino-Neto; Mary C Dinauer; Laurent Abel; Jean-Laurent Casanova
Journal:  Nat Immunol       Date:  2011-01-30       Impact factor: 25.606

2.  Severe mycobacterial infections in two pairs of Chinese siblings with interleukin-12 receptor beta1 deficiency.

Authors:  P P W Lee; L P Jiang; X C Wang; K W Chan; W W Tu; Y L Lau
Journal:  Eur J Pediatr       Date:  2007-03-27       Impact factor: 3.183

Review 3.  Human genetics of infectious diseases: a unified theory.

Authors:  Jean-Laurent Casanova; Laurent Abel
Journal:  EMBO J       Date:  2007-01-25       Impact factor: 11.598

Review 4.  Genetics and evolution of tuberculosis pathogenesis: New perspectives and approaches.

Authors:  Michael L McHenry; Scott M Williams; Catherine M Stein
Journal:  Infect Genet Evol       Date:  2020-01-22       Impact factor: 3.342

5.  A 1,100-year-old founder effect mutation in IL12B gene is responsible for Mendelian susceptibility to mycobacterial disease in Tunisian patients.

Authors:  Imen Ben-Mustapha; Meriem Ben-Ali; Najla Mekki; Etienne Patin; Christine Harmant; Jihène Bouguila; Houda Elloumi-Zghal; Abdelaziz Harbi; Mohamed Béjaoui; Lamia Boughammoura; Jalel Chemli; Mohamed-Ridha Barbouche
Journal:  Immunogenetics       Date:  2013-10-15       Impact factor: 2.846

6.  Extensively drug resistant tuberculosis in a 7-year-old child with interferon-γ and interleukin-12 deficiency.

Authors:  Ketan Kulkarni; Meenu Singh; Pooja Soneja; Joseph Mathew; Ram Kumar Marwaha
Journal:  BMJ Case Rep       Date:  2009-02-16

7.  Clinical and host genetic characteristics of Mendelian susceptibility to mycobacterial diseases in Japan.

Authors:  Takayuki Hoshina; Hidetoshi Takada; Yuka Sasaki-Mihara; Koichi Kusuhara; Koichi Ohshima; Satoshi Okada; Masao Kobayashi; Osamu Ohara; Toshiro Hara
Journal:  J Clin Immunol       Date:  2011-01-08       Impact factor: 8.317

8.  Heterozygosity for the Y701C STAT1 mutation in a multiplex kindred with multifocal osteomyelitis.

Authors:  Osamu Hirata; Satoshi Okada; Miyuki Tsumura; Reiko Kagawa; Mizuka Miki; Hiroshi Kawaguchi; Kazuhiro Nakamura; Stéphanie Boisson-Dupuis; Jean-Laurent Casanova; Yoshihiro Takihara; Masao Kobayashi
Journal:  Haematologica       Date:  2013-04-12       Impact factor: 9.941

9.  Primary immunodeficiency diseases worldwide: more common than generally thought.

Authors:  Ahmed Aziz Bousfiha; Leïla Jeddane; Fatima Ailal; Ibtihal Benhsaien; Nizar Mahlaoui; Jean-Laurent Casanova; Laurent Abel
Journal:  J Clin Immunol       Date:  2012-07-31       Impact factor: 8.317

Review 10.  Tuberculosis and its incidence, special nature, and relationship with chronic obstructive pulmonary disease.

Authors:  Biswajit Chakrabarti; Peter M A Calverley; Peter D O Davies
Journal:  Int J Chron Obstruct Pulmon Dis       Date:  2007
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