Literature DB >> 26621739

Human genetic basis of interindividual variability in the course of infection.

Jean-Laurent Casanova1.   

Abstract

The key problem in human infectious diseases was posed at the turn of the 20th century: their pathogenesis. For almost any given virus, bacterium, fungus, or parasite, life-threatening clinical disease develops in only a small minority of infected individuals. Solving this infection enigma is important clinically, for diagnosis, prognosis, prevention, and treatment. Some microbes will inevitably remain refractory to, or escape vaccination, or chemotherapy, or both. The solution also is important biologically, because the emergence and evolution of eukaryotes alongside more rapidly evolving prokaryotes, archaea, and viruses posed immunological challenges of an ecological and evolutionary nature. We need to study these challenges in natural, as opposed to experimental, conditions, and also at the molecular and cellular levels. According to the human genetic theory of infectious diseases, inborn variants underlie life-threatening infectious diseases. Here I review the history of the field of human genetics of infectious diseases from the turn of the 19th century to the second half of the 20th century. This paper thus sets the scene, providing the background information required to understand and appreciate the more recently described monogenic forms of resistance or predisposition to specific infections discussed in a second paper in this issue.

Entities:  

Keywords:  human genetics; immunology; infectious diseases; pediatrics; primary immunodeficiency

Mesh:

Year:  2015        PMID: 26621739      PMCID: PMC4697415          DOI: 10.1073/pnas.1521644112

Source DB:  PubMed          Journal:  Proc Natl Acad Sci U S A        ISSN: 0027-8424            Impact factor:   11.205


  103 in total

Review 1.  Life-threatening infectious diseases of childhood: single-gene inborn errors of immunity?

Authors:  Alexandre Alcaïs; Lluis Quintana-Murci; David S Thaler; Erwin Schurr; Laurent Abel; Jean-Laurent Casanova
Journal:  Ann N Y Acad Sci       Date:  2010-11-22       Impact factor: 5.691

Review 2.  Infection in sickle cell disease: a review.

Authors:  Catherine Booth; Baba Inusa; Stephen K Obaro
Journal:  Int J Infect Dis       Date:  2009-06-03       Impact factor: 3.623

Review 3.  The genetic theory of infectious diseases: a brief history and selected illustrations.

Authors:  Jean-Laurent Casanova; Laurent Abel
Journal:  Annu Rev Genomics Hum Genet       Date:  2013-05-29       Impact factor: 8.929

4.  Microbiology: Ditch the term pathogen.

Authors:  Arturo Casadevall; Liise-anne Pirofski
Journal:  Nature       Date:  2014-12-11       Impact factor: 49.962

5.  Severe hepatic fibrosis in Schistosoma mansoni infection is controlled by a major locus that is closely linked to the interferon-gamma receptor gene.

Authors:  A J Dessein; D Hillaire; N E Elwali; S Marquet; Q Mohamed-Ali; A Mirghani; S Henri; A A Abdelhameed; O K Saeed; M M Magzoub; L Abel
Journal:  Am J Hum Genet       Date:  1999-09       Impact factor: 11.025

6.  The mouse intestinal microflora with emphasis on the strict anaerobes.

Authors:  A Lee; J Gordon; C J Lee; R Dubos
Journal:  J Exp Med       Date:  1971-02-01       Impact factor: 14.307

7.  Defective LPS signaling in C3H/HeJ and C57BL/10ScCr mice: mutations in Tlr4 gene.

Authors:  A Poltorak; X He; I Smirnova; M Y Liu; C Van Huffel; X Du; D Birdwell; E Alejos; M Silva; C Galanos; M Freudenberg; P Ricciardi-Castagnoli; B Layton; B Beutler
Journal:  Science       Date:  1998-12-11       Impact factor: 47.728

Review 8.  The damage-response framework of microbial pathogenesis and infectious diseases.

Authors:  Liise-anne Pirofski; Arturo Casadevall
Journal:  Adv Exp Med Biol       Date:  2008       Impact factor: 2.622

9.  An autosomal dominant major gene confers predisposition to pulmonary tuberculosis in adults.

Authors:  Jamila El Baghdadi; Marianna Orlova; Andrea Alter; Brigitte Ranque; Mohamed Chentoufi; Faouzia Lazrak; Moulay Idriss Archane; Jean-Laurent Casanova; Abdellah Benslimane; Erwin Schurr; Laurent Abel
Journal:  J Exp Med       Date:  2006-06-26       Impact factor: 14.307

10.  The functions of the thymus system and the bursa system in the chicken.

Authors:  M D Cooper; D A Raymond; R D Peterson; M A South; R A Good
Journal:  J Exp Med       Date:  1966-01-01       Impact factor: 14.307

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  75 in total

1.  Profile of Jean-Laurent Casanova.

Authors:  Prashant Nair
Journal:  Proc Natl Acad Sci U S A       Date:  2015-12-14       Impact factor: 11.205

Review 2.  Systems immunology: just getting started.

Authors:  Mark M Davis; Cristina M Tato; David Furman
Journal:  Nat Immunol       Date:  2017-06-20       Impact factor: 25.606

3.  Fungal immunology in clinical practice: Magical realism or practical reality?

Authors:  Christina C Chang; Stuart M Levitz
Journal:  Med Mycol       Date:  2019-06-01       Impact factor: 4.076

Review 4.  Life-Threatening Infections Due to Live-Attenuated Vaccines: Early Manifestations of Inborn Errors of Immunity.

Authors:  Laura Pöyhönen; Jacinta Bustamante; Jean-Laurent Casanova; Emmanuelle Jouanguy; Qian Zhang
Journal:  J Clin Immunol       Date:  2019-05-23       Impact factor: 8.317

Review 5.  Inborn errors of immunity underlying fungal diseases in otherwise healthy individuals.

Authors:  Juan Li; Donald C Vinh; Jean-Laurent Casanova; Anne Puel
Journal:  Curr Opin Microbiol       Date:  2017-11-10       Impact factor: 7.934

Review 6.  What Is a Host? Attributes of Individual Susceptibility.

Authors:  Arturo Casadevall; Liise-Anne Pirofski
Journal:  Infect Immun       Date:  2018-01-22       Impact factor: 3.441

7.  From Ignác Semmelweis to Primary Immunodeficiencies: a Bicentenary Commemoration.

Authors:  László Maródi
Journal:  J Clin Immunol       Date:  2018-04-13       Impact factor: 8.317

Review 8.  Stem Cell-Derived Culture Models of Hepatitis E Virus Infection.

Authors:  Viet Loan Dao Thi; Xianfang Wu; Charles M Rice
Journal:  Cold Spring Harb Perspect Med       Date:  2019-03-01       Impact factor: 6.915

9.  Inborn errors in RNA polymerase III underlie severe varicella zoster virus infections.

Authors:  Benson Ogunjimi; Shen-Ying Zhang; Katrine B Sørensen; Kristian A Skipper; Madalina Carter-Timofte; Gaspard Kerner; Stefanie Luecke; Thaneas Prabakaran; Yujia Cai; Josephina Meester; Esther Bartholomeus; Nikhita Ajit Bolar; Geert Vandeweyer; Charlotte Claes; Yasmine Sillis; Lazaro Lorenzo; Raffaele A Fiorenza; Soraya Boucherit; Charlotte Dielman; Steven Heynderickx; George Elias; Andrea Kurotova; Ann Vander Auwera; Lieve Verstraete; Lieven Lagae; Helene Verhelst; Anna Jansen; Jose Ramet; Arvid Suls; Evelien Smits; Berten Ceulemans; Lut Van Laer; Genevieve Plat Wilson; Jonas Kreth; Capucine Picard; Horst Von Bernuth; Joël Fluss; Stephane Chabrier; Laurent Abel; Geert Mortier; Sebastien Fribourg; Jacob Giehm Mikkelsen; Jean-Laurent Casanova; Søren R Paludan; Trine H Mogensen
Journal:  J Clin Invest       Date:  2017-08-07       Impact factor: 14.808

10.  Kaposi sarcoma, oral malformations, mitral dysplasia, and scoliosis associated with 7q34-q36.3 heterozygous terminal deletion.

Authors:  Carolyn C Jackson; Alain Lefèvre-Utile; Anne Guimier; Valérie Malan; Julie Bruneau; Antoine Gessain; Olivier Cassar; Jeanne Amiel; Aurélie Cobat; Vimel Rattina; Laurent Abel; Jean-Laurent Casanova; Stéphane Blanche
Journal:  Am J Med Genet A       Date:  2017-05-09       Impact factor: 2.802

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