Jean Laurent Casanova

Summary

Country: France

Publications

  1. ncbi Pyogenic bacterial infections in humans with MyD88 deficiency
    Horst von Bernuth
    Human Genetics of Infectious Diseases, INSERM U550, Paris, France
    Science 321:691-6. 2008
  2. ncbi Human genetics of infectious diseases: a unified theory
    Jean Laurent Casanova
    Laboratory of Human Genetics of Infectious Diseases, University of Paris Rene Descartes, INSERM, U550, Necker Medical School, Paris, France
    EMBO J 26:915-22. 2007
  3. ncbi A fast procedure for the detection of defects in Toll-like receptor signaling
    Horst von Bernuth
    Laboratory of Human Genetics of Infectious Diseases, University of Paris Rene Descartes, Institut National de la Santé et de la Recherche Médicale U550, Necker Medical School, Paris, France
    Pediatrics 118:2498-503. 2006
  4. ncbi IRAK4 and NEMO mutations in otherwise healthy children with recurrent invasive pneumococcal disease
    Cheng Lung Ku
    Laboratory of Human Genetics of Infectious Diseases, Necker Medical School, University of Paris Rene Descartes, Paris, France
    J Med Genet 44:16-23. 2007
  5. ncbi Gain-of-glycosylation mutations
    Guillaume Vogt
    Laboratory of Human Genetics of Infectious Diseases, INSERM, U550, Paris 75015, France
    Curr Opin Genet Dev 17:245-51. 2007
  6. ncbi [Mendelian predisposition to mycobacterial infections in humans]
    J L Casanova
    Laboratoire INSERM U429, Hopital Necker Enfants Malades, Paris
    J Soc Biol 194:25-8. 2000
  7. ncbi Mutations in STAT3 and IL12RB1 impair the development of human IL-17-producing T cells
    Ludovic de Beaucoudrey
    Laboratory of Human Genetics of Infectious Diseases, U550, Institut National de la Sante et de la Recherche Medicale, 75015 Paris, France
    J Exp Med 205:1543-50. 2008
  8. ncbi The human model: a genetic dissection of immunity to infection in natural conditions
    Jean Laurent Casanova
    Laboratory of Human Genetics of Infectious Diseases, University of Paris René Descartes INSERM U550, Necker Medical School, 156 rue de Vaugirard, 75015 Paris, France, EU
    Nat Rev Immunol 4:55-66. 2004
  9. ncbi Revisiting human primary immunodeficiencies
    Jean Laurent Casanova
    Laboratory of Human Genetics of Infectious Diseases, Institut National de la Sante et de la Recherche Medicale, Paris, France
    J Intern Med 264:115-27. 2008
  10. ncbi Primary immunodeficiencies: a field in its infancy
    Jean Laurent Casanova
    Laboratory of Human Genetics of Infectious Diseases, Institut National de la Sante et de la Recherche Medicale, U550, Paris, France
    Science 317:617-9. 2007

Detail Information

Publications118 found, 100 shown here

  1. ncbi Pyogenic bacterial infections in humans with MyD88 deficiency
    Horst von Bernuth
    Human Genetics of Infectious Diseases, INSERM U550, Paris, France
    Science 321:691-6. 2008
    ..The MyD88-dependent TLRs and IL-1Rs are therefore essential for protective immunity to a small number of pyogenic bacteria, but redundant for host defense to most natural infections...
  2. ncbi Human genetics of infectious diseases: a unified theory
    Jean Laurent Casanova
    Laboratory of Human Genetics of Infectious Diseases, University of Paris Rene Descartes, INSERM, U550, Necker Medical School, Paris, France
    EMBO J 26:915-22. 2007
    ....
  3. ncbi A fast procedure for the detection of defects in Toll-like receptor signaling
    Horst von Bernuth
    Laboratory of Human Genetics of Infectious Diseases, University of Paris Rene Descartes, Institut National de la Santé et de la Recherche Médicale U550, Necker Medical School, Paris, France
    Pediatrics 118:2498-503. 2006
    ..We, therefore, aimed to develop a cheap and fast test for the detection of defects in Toll-like receptor signaling...
  4. ncbi IRAK4 and NEMO mutations in otherwise healthy children with recurrent invasive pneumococcal disease
    Cheng Lung Ku
    Laboratory of Human Genetics of Infectious Diseases, Necker Medical School, University of Paris Rene Descartes, Paris, France
    J Med Genet 44:16-23. 2007
    ..About 2% of childhood episodes of invasive pneumococcal disease (IPD) are recurrent, and most remain unexplained...
  5. ncbi Gain-of-glycosylation mutations
    Guillaume Vogt
    Laboratory of Human Genetics of Infectious Diseases, INSERM, U550, Paris 75015, France
    Curr Opin Genet Dev 17:245-51. 2007
    ..The chemical complementation of cells from patients in vitro with various modifiers of glycosylation has been demonstrated and raises the possibility of specific chemical treatments for patients bearing gain-of-glycosylation mutations...
  6. ncbi [Mendelian predisposition to mycobacterial infections in humans]
    J L Casanova
    Laboratoire INSERM U429, Hopital Necker Enfants Malades, Paris
    J Soc Biol 194:25-8. 2000
    ..Although genetically distinct, these conditions are immunologically related and highlight the essential role of interferon gamma-mediated immunity in the control of mycobacteria in man...
  7. ncbi Mutations in STAT3 and IL12RB1 impair the development of human IL-17-producing T cells
    Ludovic de Beaucoudrey
    Laboratory of Human Genetics of Infectious Diseases, U550, Institut National de la Sante et de la Recherche Medicale, 75015 Paris, France
    J Exp Med 205:1543-50. 2008
    ..These data suggest that IL-12Rbeta1- and STAT-3--dependent signals play a key role in the differentiation and/or expansion of human IL-17-producing T cell populations in vivo...
  8. ncbi The human model: a genetic dissection of immunity to infection in natural conditions
    Jean Laurent Casanova
    Laboratory of Human Genetics of Infectious Diseases, University of Paris René Descartes INSERM U550, Necker Medical School, 156 rue de Vaugirard, 75015 Paris, France, EU
    Nat Rev Immunol 4:55-66. 2004
    ..The human model is therefore an indispensable complement to animal models, as it allows an observational genetic dissection of immunity to infection...
  9. ncbi Revisiting human primary immunodeficiencies
    Jean Laurent Casanova
    Laboratory of Human Genetics of Infectious Diseases, Institut National de la Sante et de la Recherche Medicale, Paris, France
    J Intern Med 264:115-27. 2008
    ..We need to increase awareness of the multitude of clinical presentations of human PIDs considerably and rapidly in the medical community. Human PIDs should be considered in a wide range of clinical situations...
  10. ncbi Primary immunodeficiencies: a field in its infancy
    Jean Laurent Casanova
    Laboratory of Human Genetics of Infectious Diseases, Institut National de la Sante et de la Recherche Medicale, U550, Paris, France
    Science 317:617-9. 2007
    ..It now appears that most individuals suffer from at least one of a multitude of primary immunodeficiencies, the dissection of which is helping to improve human medicine while describing immunity in natura...
  11. ncbi Inborn errors of immunity to infection: the rule rather than the exception
    Jean Laurent Casanova
    Laboratory of Human Genetics of Infectious Diseases, University of Paris René Descartes INSERM U550, Necker Medical School, Pediatric Hematology Immunology Unit, Necker Enfants Malades Hospital, Paris, France
    J Exp Med 202:197-201. 2005
    ..We argue here that most individuals retain a natural vulnerability to infectious diseases, reflecting a great diversity of inborn errors of immunity...
  12. ncbi From idiopathic infectious diseases to novel primary immunodeficiencies
    Jean Laurent Casanova
    Laboratoire de Genetique Humaine des Maladies Infectieuses, Université de Paris René Descartes INSERM U550, Faculte de Medecine Necker, Paris, France
    J Allergy Clin Immunol 116:426-30. 2005
    ....
  13. ncbi Human Mannose-binding Lectin in Immunity: Friend, Foe, or Both?
    Jean Laurent Casanova
    Pediatric Hematology Immunology Unit, Necker Enfants Malades Hospital, Paris, France
    J Exp Med 199:1295-9. 2004
    ..These data suggest that human MBL is largely redundant for protective immunity and may even have been subject to counter selection because of a deleterious impact...
  14. ncbi Mendelian susceptibility to mycobacterial infection in man
    J L Casanova
    Unité Clinique d Immunologie et d Hématologie Pédiatriques, Hopital Necker Enfants Malades, Paris, France
    Swiss Med Wkly 131:445-54. 2001
    ..The genetic and immunologic heterogeneity of this syndrome makes accurate diagnosis challenging but vital as decisions about the most appropriate treatment are best taken based on an accurate molecular diagnosis...
  15. ncbi Forward genetics of infectious diseases: immunological impact
    Jean-Laurent Casanova
    Laboratory of Human Genetics of Infectious Diseases, , Necker Medical School, Paris, France, EU
    Trends Immunol 23:469-72. 2002
  16. ncbi Genetic dissection of immunity to mycobacteria: the human model
    Jean Laurent Casanova
    Laboratory of Human Genetics of Infectious Diseases, Université René Descartes INSERM U550, Necker Medical School, 156 rue de Vaugirard, 75015 Paris, France
    Annu Rev Immunol 20:581-620. 2002
    ..The human model has potential uses beyond the study of mycobacterial infections and may well become a model of choice for the investigation of immunity to infectious agents...
  17. ncbi A novel form of complete IL-12/IL-23 receptor beta1 deficiency with cell surface-expressed nonfunctional receptors
    Claire Fieschi
    Laboratory of Human Genetics of Infectious Diseases, University of Paris René Descartes Institut National de la Santé et de la Recherche Médicale U550, Paris, France, EU
    Blood 104:2095-101. 2004
    ..Paradoxically, the largest IL12RB1 mutation detected is associated with the cell surface expression of nonfunctional IL-12Rbeta1, defining a novel genetic form of IL-12Rbeta1 deficiency...
  18. ncbi Pyogenic bacterial infections in humans with IRAK-4 deficiency
    Capucine Picard
    Laboratoire de Genetique Humaine des Maladies Infectieuses, Université René Descartes INSERM U550, Faculte Necker, 156 rue de Vaugirard, 75015 Paris, France
    Science 299:2076-9. 2003
    ..These findings suggest that, in humans, the TIR-IRAK signaling pathway is crucial for protective immunity against specific bacteria but is redundant against most other microorganisms...
  19. ncbi Inherited interleukin-12 deficiency: IL12B genotype and clinical phenotype of 13 patients from six kindreds
    Capucine Picard
    Laboratoire de Genetique Humaine des Maladies Infectieuses, Université René Descartes INSERM U550, Faculte de Medecine Necker, Paris, France
    Am J Hum Genet 70:336-48. 2002
    ..To date, two founder IL12B mutations have been identified, accounting for the recurrence of a large deletion and a small insertion within populations from the Indian subcontinent and from the Arabian Peninsula, respectively...
  20. ncbi Novel STAT1 alleles in otherwise healthy patients with mycobacterial disease
    Ariane Chapgier
    Laboratory of Human Genetics of Infectious Diseases, University of Paris Rene Descartes, INSERM U550, Necker Medical School, Paris, France
    PLoS Genet 2:e131. 2006
    ..These STAT1 alleles define two forms of dominant STAT1 deficiency, depending on whether the mutations impair STAT1 phosphorylation or DNA binding...
  21. ncbi Herpes simplex virus encephalitis in human UNC-93B deficiency
    Armanda Casrouge
    Laboratoire de Genetique Humaine des Maladies Infectieuses, Université de Paris René Descartes, INSERM, U550, Faculte de Medecine Necker, Paris 75015, France
    Science 314:308-12. 2006
    ..HSE can result from a single-gene immunodeficiency that does not compromise immunity to most pathogens, unlike most known primary immunodeficiencies. Other severe infectious diseases may also reflect monogenic disorders of immunity...
  22. ncbi Gains of glycosylation comprise an unexpectedly large group of pathogenic mutations
    Guillaume Vogt
    Laboratory of Human Genetics of Infectious Diseases, University of Paris René Descartes INSERM U550, Necker Medical School, 156 rue de Vaugirard, 75015 Paris, France
    Nat Genet 37:692-700. 2005
    ..Thus, an unexpectedly high proportion of mutations that cause human genetic disease might lead to the creation of new N-glycosylation sites. Their pathogenic effects may be a direct consequence of the addition of N-linked carbohydrate...
  23. ncbi Impaired response to interferon-alpha/beta and lethal viral disease in human STAT1 deficiency
    Stephanie Dupuis
    Laboratoire de Genetique Humaine des Maladies Infectieuses, Université de Paris René Descartes INSERM UMR550, Faculte de Medecine Necker Enfants Malades, 75015 Paris, France
    Nat Genet 33:388-91. 2003
    ..Viral multiplication was not inhibited by recombinant IFN-alpha/beta in cell lines from the two individuals. Inherited impairment of the STAT1-dependent response to human IFN-alpha/beta thus results in susceptibility to viral disease...
  24. ncbi Human TLR-7-, -8-, and -9-mediated induction of IFN-alpha/beta and -lambda Is IRAK-4 dependent and redundant for protective immunity to viruses
    Kun Yang
    Laboratory of Human Genetics of Infectious Diseases, University of Paris René Descartes INSERM U550, Necker Medical School, 75015 Paris, France
    Immunity 23:465-78. 2005
    ..The TLR-7-, TLR-8-, and TLR-9-dependent induction of IFN-alpha/beta and -lambda is strictly IRAK-4 dependent and paradoxically redundant for protective immunity to most viruses in humans...
  25. ncbi Human primary immunodeficiencies of type I interferons
    Emmanuelle Jouanguy
    Laboratory of Human Genetics of Infectious Diseases, Institut National de la Sante et de la Recherche Medicale, U550, 75015 Paris, France
    Biochimie 89:878-83. 2007
    ..These novel inherited disorders strongly suggest that type I IFN-mediated immunity is essential for protection against natural infections caused by several viruses in humans...
  26. ncbi Bacillus Calmette Guerin triggers the IL-12/IFN-gamma axis by an IRAK-4- and NEMO-dependent, non-cognate interaction between monocytes, NK, and T lymphocytes
    Jacqueline Feinberg
    Laboratoire de Genetique Humaine des Maladies Infectieuses, Université de Paris René Descartes INSERM U550, Faculte de Medecine Necker, Paris, France
    Eur J Immunol 34:3276-84. 2004
    ..The stimulation of whole blood by live BCG thus triggers the IL-12/IFN-gamma axis by an IRAK-4- and NEMO-dependent, non-cognate interaction between monocytes, NK, and T lymphocytes...
  27. ncbi Novel primary immunodeficiencies revealed by the investigation of paediatric infectious diseases
    Jacinta Bustamante
    Laboratory of Human Genetics of Infectious Diseases, Institut National de la Sante et de la Recherche Medicale, INSERM U550, Paris 75015, France, EU
    Curr Opin Immunol 20:39-48. 2008
    ....
  28. ncbi Autosomal dominant STAT3 deficiency and hyper-IgE syndrome: molecular, cellular, and clinical features from a French national survey
    Marie Olivia Chandesris
    Hematology Department, Necker Enfants Malades Hospital, Assistance Publique Hopitaux de Paris, Paris, France
    Medicine (Baltimore) 91:e1-19. 2012
    ..Overall, the prognosis of STAT3 deficiency may be considered good, provided that multiple prophylactic measures, including IgG infusions, are implemented...
  29. ncbi Inborn errors of interferon (IFN)-mediated immunity in humans: insights into the respective roles of IFN-alpha/beta, IFN-gamma, and IFN-lambda in host defense
    Shen Ying Zhang
    Laboratory of Human Genetics of Infectious Diseases, Institut National de Santé et de Recherche Médicale, U550, Paris, France, EU
    Immunol Rev 226:29-40. 2008
    ..Future studies in humans aim to define the specific roles of IFN-alpha/beta and IFN-lambda types and individual molecules in host defense in natura...
  30. ncbi Genetic susceptibility to herpes simplex virus 1 encephalitis in mice and humans
    Vanessa Sancho Shimizu
    Laboratory of Human Genetics of Infectious Diseases, Institut National de la Sante et de la Recherche Medicale, Paris, France
    Curr Opin Allergy Clin Immunol 7:495-505. 2007
    ..Its pathogenesis has long remained elusive. We highlight the investigations dealing with the genetic basis of herpes simplex encephalitis in mice and humans...
  31. ncbi A novel X-linked recessive form of Mendelian susceptibility to mycobaterial disease
    Jacinta Bustamante
    Laboratoire de Génétique Humaine des Maladies Infectieuses INSERM Unité 550, Faculte Necker, Paris, France
    J Med Genet 44:e65. 2007
    ..The gene products are physiologically related, as they are involved in interleukin 12/23-dependent, interferon gamma-mediated immunity. However, no genetic aetiology has yet been identified for about half the patients with MSMD...
  32. ncbi From infectious diseases to primary immunodeficiencies
    Jacinta Bustamante
    Laboratory of Human Genetics of Infectious Diseases, Institut Nationale de la Santé et de la Recherché Médicale, INSERM U550, 75015 Paris, France
    Immunol Allergy Clin North Am 28:235-58, vii. 2008
    ..This challenging process will eventually reap its rewards, to the benefit of patients and their families...
  33. ncbi Inborn errors of IL-12/23- and IFN-gamma-mediated immunity: molecular, cellular, and clinical features
    Orchidée Filipe-Santos
    Laboratory of Human Genetics of Infectious Diseases, University of Paris René Descartes INSERM U 550, Necker Medical School, 75015 Paris, France, EU
    Semin Immunol 18:347-61. 2006
    ..We review here the molecular, cellular, and clinical features of patients with inborn errors of the IL-12/23-IFN-gamma circuit...
  34. ncbi Partial MCM4 deficiency in patients with growth retardation, adrenal insufficiency, and natural killer cell deficiency
    Laure Gineau
    Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale U980, Paris, France
    J Clin Invest 122:821-32. 2012
    ..Thus, partial MCM4 deficiency results in a genetic syndrome of growth retardation with adrenal insufficiency and selective NK deficiency...
  35. ncbi Complementation of a pathogenic IFNGR2 misfolding mutation with modifiers of N-glycosylation
    Guillaume Vogt
    Laboratory of Human Genetics of Infectious Diseases, U550, Institut National de la Sante et de la Recherche Medicale INSERM, 75015 Paris, France
    J Exp Med 205:1729-37. 2008
    ..Some of these compounds are available for clinical use, paving the way for clinical trials of chemical complementation for various human genetic traits...
  36. ncbi Selective predisposition to bacterial infections in IRAK-4-deficient children: IRAK-4-dependent TLRs are otherwise redundant in protective immunity
    Cheng Lung Ku
    Laboratory of Human Genetics of Infectious Diseases, U550, Institut National de la Sante et de la Recherche Medicale, 75015 Paris, France
    J Exp Med 204:2407-22. 2007
    ..Conversely, IRAK-4-dependent human TLRs appear to play a redundant role in protective immunity to most infections, at most limited to childhood immunity to some pyogenic bacteria...
  37. ncbi Heritable defects of the human TLR signalling pathways
    Anne Puel
    University of Paris INSERM U550, Necker Medical School, Paris, France
    J Endotoxin Res 11:220-4. 2005
    ..These data, therefore, suggest that TLRs play a critical role in host defence against pyogenic bacteria, but may be dispensable or redundant for immunity to most other infectious agents in humans...
  38. ncbi Inherited human IRAK-4 deficiency: an update
    Capucine Picard
    Centre d Etude des Déficits Immunitaires, Hopital Necker Enfants Malades, 149 rue de Sevres, Paris, 75015, France, EU
    Immunol Res 38:347-52. 2007
    ..We briefly review inherited human IRAK-4 deficiency, a recently described primary immunodeficiency leading to recurrent, invasive, pyogenic bacteria infection, and invasive pneumococcal disease in particular...
  39. ncbi IgM+IgD+CD27+ B cells are markedly reduced in IRAK-4-, MyD88-, and TIRAP- but not UNC-93B-deficient patients
    Sandra Weller
    INSERM U783, Développement du Système Immunitaire, Faculté de Médecine Site Necker Enfants Malades, Universite Paris Descartes, Paris, France
    Blood 120:4992-5001. 2012
    ..Hence, we propose a role for TIRAP-dependent TLRs, possibly TLR10 in particular, in the development and/or maintenance of IgM(+)IgD(+)CD27(+) B cells in humans...
  40. ncbi TLR3 deficiency in patients with herpes simplex encephalitis
    Shen Ying Zhang
    Human Genetics of Infectious Diseases, Institut National de la Sante et de la Recherche Medicale INSERM, U550, Faculty Necker, Paris 75015, France
    Science 317:1522-7. 2007
    ..Human TLR3 appears to be redundant in host defense to most microbes but is vital for natural immunity to HSV-1 in the CNS, which suggests that neurotropic viruses have contributed to the evolutionary maintenance of TLR3...
  41. ncbi Partial T and B lymphocyte immunodeficiency and predisposition to lymphoma in patients with hypomorphic mutations in Artemis
    Despina Moshous
    Unité Développement Normal et Pathologique du Système Immunitaire, Institut National de la Santé et de la Recherche Médicale INSERM U429, Hopital Necker Enfants Malades, Paris, France
    J Clin Invest 111:381-7. 2003
    ..This syndrome emphasizes the role of Artemis in the NHEJ pathway of DNA repair and suggests that other, yet ill-defined, conditions associating immunodeficiency and lymphoma could be caused by mutations in genes encoding NHEJ factors...
  42. ncbi BCG-osis and tuberculosis in a child with chronic granulomatous disease
    Jacinta Bustamante
    Laboratory of Human Genetics of Infectious Diseases, Institut National de la Santé et de la Recherche Médicale U550 University Paris René Descartes, Necker Medical School, Paris, France
    J Allergy Clin Immunol 120:32-8. 2007
    ..Chronic granulomatous disease should be suspected in all children with BCG-osis, even in the absence of nonmycobacterial infectious diseases, and in selected children with recurrent BCG-itis or severe tuberculosis...
  43. ncbi Autoantibodies against IL-17A, IL-17F, and IL-22 in patients with chronic mucocutaneous candidiasis and autoimmune polyendocrine syndrome type I
    Anne Puel
    Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Sante et de la Recherche Medicale INSERM, U550, 75015 Paris, France
    J Exp Med 207:291-7. 2010
    ..These findings suggest that auto-Abs against IL-17A, IL-17F, and IL-22 may cause CMC in patients with APS-I...
  44. ncbi A novel developmental and immunodeficiency syndrome associated with intrauterine growth retardation and a lack of natural killer cells
    Frederic Bernard
    Unité d Immunologie Hématologie Pédiatrique, Hopital Necker Enfants Malades, Paris, France
    Pediatrics 113:136-41. 2004
    ..To describe a novel syndrome characterized by severe prenatal and postnatal growth failure, mild skeletal and facial abnormalities, and primary immunodeficiency...
  45. ncbi Hematopoietic stem cell transplantation in hemophagocytic lymphohistiocytosis: a single-center report of 48 patients
    Marie Ouachée-Chardin
    Department of Pediatric Immuno Hematology, Necker Enfants Malades Hospital, Paris, France
    Pediatrics 117:e743-50. 2006
    ..Chemotherapy- or immunotherapy-based treatments can achieve remission. Hematopoietic stem cell transplantation (HSCT), however, is the only curative option, but optimal modalities and long-term outcome are not yet well known...
  46. ncbi Human TRAF3 adaptor molecule deficiency leads to impaired Toll-like receptor 3 response and susceptibility to herpes simplex encephalitis
    Rebeca Pérez de Diego
    Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Inserm U980, Necker Medical School, Paris, France
    Immunity 33:400-11. 2010
    ..Thus, TLR3-mediated immunity against primary infection by HSV-1 in the central nervous system is critically dependent on TRAF3...
  47. ncbi Age-dependent Mendelian predisposition to herpes simplex virus type 1 encephalitis in childhood
    Laurent Abel
    Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM National Institute of Health and Medical Research, Paris, France
    J Pediatr 157:623-9, 629.e1. 2010
    ..To test the hypothesis that predisposition to childhood herpes simplex virus (HSV) type 1 encephalitis (HSE) may be determined in part by human genetic factors...
  48. ncbi Primary immunodeficiencies associated with pneumococcal disease
    Capucine Picard
    Pediatric Immunology Hematology Unit, Necker Enfants Malades Hospital, University of Paris Rene Descartes, Paris, France, EU
    Curr Opin Allergy Clin Immunol 3:451-9. 2003
    ..We thus reviewed the medical literature on cases of S. pneumoniae infection in patients with primary immunodeficiency diseases, with a particular emphasis on invasive pneumococcal disease...
  49. ncbi Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis
    Luyan Liu
    Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Necker Medical School, Institut National de la Santé et de la Recherche Médicale U980 and University Paris Descartes, 75015 Paris, France
    J Exp Med 208:1635-48. 2011
    ..Gain-of-function STAT1 alleles therefore cause AD CMCD by impairing IL-17 immunity...
  50. ncbi Herpes simplex virus encephalitis in a patient with complete TLR3 deficiency: TLR3 is otherwise redundant in protective immunity
    Yiqi Guo
    1St Giles Laboratory of Human Genetics of Infectious Diseases, The Rockefeller University, New York, NY, USA Laboratory of Human Genetics of Infectious Diseases, National Institute of Health and Medical Research, Paris, France Necker Medical School, Paris Descartes University, Paris 75015, France
    J Exp Med 208:2083-98. 2011
    ....
  51. ncbi A hypermorphic IkappaBalpha mutation is associated with autosomal dominant anhidrotic ectodermal dysplasia and T cell immunodeficiency
    Gilles Courtois
    Unité de Biologie Moléculaire de l Expression Génique, Centre National de la Recherche Scientifique URA 2582, Institut Pasteur, Paris, France
    J Clin Invest 112:1108-15. 2003
    ..Our report highlights both the diversity of genotypes associated with EDA-ID and the diversity of immunologic phenotypes associated with mutations in different components of the NF-kappaB signaling pathway...
  52. ncbi Genetic dissection of immunity in leprosy
    Alexandre Alcais
    Laboratoire de Genetique Humaine des Maladies Infectieuses, Université de Paris René Descartes, Institut National de la Santé et de la Recherche Medicale U 550, Faculte de Medecine Necker, Paris, France, European Union
    Curr Opin Immunol 17:44-8. 2005
    ..leprae. With respect to genome-wide screens, a major breakthrough has been reported this year; variants in the regulatory region shared by PARK2 and PACRG have been identified as being common risk factors for leprosy...
  53. ncbi Tuberculosis in children and adults: two distinct genetic diseases
    Alexandre Alcais
    Laboratory of Human Genetics of Infectious Diseases, University of Paris René Descartes INSERM U550, Necker Medical School, 75015 Paris, France
    J Exp Med 202:1617-21. 2005
    ..Here, we argue that tuberculosis and its clinical expression largely reflect the underlying human genetic background...
  54. ncbi X-linked susceptibility to mycobacteria is caused by mutations in NEMO impairing CD40-dependent IL-12 production
    Orchidée Filipe-Santos
    Laboratory of Human Genetics of Infectious Diseases, University of Paris René Descartes Institut National de la Santé et de la Recherche Médicale INSERM U 550, Necker Medical School, Paris, France
    J Exp Med 203:1745-59. 2006
    ..They also demonstrate the importance of the T cell- and CD40L-triggered, CD40-, and NEMO/NF-kappaB/c-Rel-mediated induction of IL-12 by monocyte-derived cells for protective immunity to mycobacteria in humans...
  55. ncbi A major locus on chromosome 3p22 conferring predisposition to human herpesvirus 8 infection
    Vincent Pedergnana
    Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale U980, Paris, France
    Eur J Hum Genet 20:690-5. 2012
    ..83, P=2.0 × 10(-5)). This study provides the first evidence that HHV-8 infection in children in endemic areas has a strong genetic basis involving at least one recessive major locus on chromosome 3p22...
  56. ncbi Herpes simplex encephalitis in children with autosomal recessive and dominant TRIF deficiency
    Vanessa Sancho-Shimizu
    Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Sante et de la Recherche Medicale, Necker Medical School, Paris, France
    J Clin Invest 121:4889-902. 2011
    ..They further demonstrate the importance of TRIF for the TLR3-dependent production of antiviral IFNs in the CNS during primary infection with HSV-1 in childhood...
  57. ncbi Accounting for genetic heterogeneity in homozygosity mapping: application to Mendelian susceptibility to mycobacterial disease
    Audrey V Grant
    Laboratoire de Genetique Humaine des Maladies Infectieuses, Université Paris Descartes INSERM U980, Faculte de Medecine Necker, 156 rue de Vaugirard, Paris, France
    J Med Genet 48:567-71. 2011
    ..Genome-wide homozygosity mapping is a powerful method for locating rare recessive Mendelian mutations. However, statistical power decreases dramatically in the presence of genetic heterogeneity...
  58. ncbi New mechanism of X-linked anhidrotic ectodermal dysplasia with immunodeficiency: impairment of ubiquitin binding despite normal folding of NEMO protein
    Marjorie Hubeau
    Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM, U980, Paris, France
    Blood 118:926-35. 2011
    ..They also demonstrate that the normal expression and folding of NEMO do not exclude a pathogenic role for NEMO mutations in patients with EDA-ID...
  59. ncbi Revisiting human IL-12Rβ1 deficiency: a survey of 141 patients from 30 countries
    Ludovic de Beaucoudrey
    Laboratory of Human Genetics of Infectious Diseases U980, Institut National de la Sante et de la Recherche Medicale, Paris, France
    Medicine (Baltimore) 89:381-402. 2010
    ..The condition has higher clinical penetrance, broader susceptibility to infections, and less favorable outcome than previously thought...
  60. ncbi Human Toll-like receptor-dependent induction of interferons in protective immunity to viruses
    Shen Ying Zhang
    Laboratory of Human Genetics of Infectious Diseases, Institut National de la Sante et de la Recherche Medicale, Paris, France, EU
    Immunol Rev 220:225-36. 2007
    ....
  61. ncbi IFN-gamma mediates the rejection of haematopoietic stem cells in IFN-gammaR1-deficient hosts
    Martin Rottman
    Laboratoire de Genetique Humaine des Maladies Infectieuses, INSERM, U550, Paris, France
    PLoS Med 5:e26. 2008
    ..This high rejection rate is not seen in any other congenital disorders and remains unexplained. We studied the underlying mechanism in a mouse model of HSCT for IFN-gammaR1 deficiency...
  62. ncbi Human CD14dim monocytes patrol and sense nucleic acids and viruses via TLR7 and TLR8 receptors
    Jerome Cros
    U838 INSERM, Universite Paris Descartes, Paris, France
    Immunity 33:375-86. 2010
    ..Thus, CD14(dim) cells are bona fide monocytes involved in the innate local surveillance of tissues and the pathogenesis of autoimmune diseases...
  63. ncbi Genome-wide association study identifies variants associated with progression of liver fibrosis from HCV infection
    Etienne Patin
    Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Necker Medical School, INSERM Unité 980, Paris, France
    Gastroenterology 143:1244-52.e1-12. 2012
    ..Only a fraction of patients with chronic HCV infection develop liver fibrosis, a process that might also be affected by genetic factors. We performed a 2-stage GWA study of liver fibrosis progression related to HCV infection...
  64. ncbi Human monogenic disorders that confer predisposition to specific infections
    Capucine Picard
    Laboratoire de Genetique Humaine des Maladies Infectieuses, Université de Paris René Descartes INSERM U550, Faculte de Medecine Necker, 156 rue de Vaugirard, 75015 Paris, France
    Novartis Found Symp 281:65-73; discussion 73-8, 208-9. 2007
    ..These 'experiments of nature' have important immunological and clinical implications...
  65. ncbi Inborn errors of mucocutaneous immunity to Candida albicans in humans: a role for IL-17 cytokines?
    Anne Puel
    Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Inserm U980, University Paris Descartes, Necker Medical School, Paris, France, EU
    Curr Opin Immunol 22:467-74. 2010
    ..albicans. They also suggest that the distinct syndrome of isolated CMC, without auto-immunity or other infections, may be caused by inborn errors of IL-17 immunity...
  66. ncbi Clinical features and outcome of patients with IRAK-4 and MyD88 deficiency
    Capucine Picard
    Study Center of Primary Immunodeficiencies, Assistance Publique Hopitaux de Paris, Paris, France
    Medicine (Baltimore) 89:403-25. 2010
    ..Prophylactic measures in childhood are beneficial, until spontaneous improvement occurs in adolescence...
  67. ncbi Genetic lessons learned from X-linked Mendelian susceptibility to mycobacterial diseases
    Jacinta Bustamante
    Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Sante et de la Recherche Medicale, Paris, France
    Ann N Y Acad Sci 1246:92-101. 2011
    ..These experiments of Nature illustrate how specific germline mutations in pleiotropic genes can dissociate signaling pathways or cell lineages, thereby resulting in surprisingly narrow clinical phenotypes...
  68. ncbi Reduced expression of FOXP3 and regulatory T-cell function in severe forms of early-onset autoimmune enteropathy
    Nicolette Moes
    Universite Paris Descartes, Paris, France
    Gastroenterology 139:770-8. 2010
    ..We analyzed the molecular basis of neonatal or early postnatal AIE using clinical, genetic, and functional immunological studies...
  69. ncbi Efficacy of gene therapy for X-linked severe combined immunodeficiency
    Salima Hacein-Bey-Abina
    Department of Biotherapy, Necker Enfants Malades Hospital, Paris, France
    N Engl J Med 363:355-64. 2010
    ..We reviewed long-term outcomes after gene therapy in nine patients with X-linked severe combined immunodeficiency (SCID-X1), which is characterized by the absence of the cytokine receptor common gamma chain...
  70. ncbi Familial NK cell deficiency associated with impaired IL-2- and IL-15-dependent survival of lymphocytes
    Celine Eidenschenk
    Laboratoire de Genetique Humaine des Maladies Infectieuses, Université de Paris René Descartes INSERM Unité 550, Faculte de Medecine Necker, 156 rue de Vaugirard, 75015 Paris, France, European Union EU
    J Immunol 177:8835-43. 2006
    ..Impaired cytokine-mediated lymphocyte survival is likely to be the pathogenic mechanism underlying this novel form of inherited and selective NK deficiency in humans...
  71. ncbi Association of IL12RB1 polymorphisms with pulmonary tuberculosis in adults in Morocco
    Natascha Remus
    Laboratory of Human Genetics of Infectious Diseases, University of Paris Rene Descartes, INSERM U550, Paris, France
    J Infect Dis 190:580-7. 2004
    ..CC, 2.69 [95% confidence interval, 1.19-6.09]). This result suggests that IL12RB1 polymorphisms might influence the risk of development of PTB in adults...
  72. ncbi Major histocompatibility complex class II expression deficiency caused by a RFXANK founder mutation: a survey of 35 patients
    Monia Ouederni
    Pediatric Hematology Immunology Unit, Assistance Publique Hopitaux de Paris, Necker Hospital, France
    Blood 118:5108-18. 2011
    ..RFXANK deficiency is a severe, often fatal CID for which HSCT is the only curative treatment. However, some patients may survive for relatively long periods if multiple prophylactic measures are implemented...
  73. ncbi Germline CYBB mutations that selectively affect macrophages in kindreds with X-linked predisposition to tuberculous mycobacterial disease
    Jacinta Bustamante
    Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Sante et de la Recherche Medicale, U980, Paris, France
    Nat Immunol 12:213-21. 2011
    ..This 'experiment of nature' indicates that CYBB is associated with MSMD and demonstrates that the respiratory burst in human macrophages is a crucial mechanism for protective immunity to tuberculous mycobacteria...
  74. ncbi The role of interleukin-12 in human infectious diseases: only a faint signature
    Claire Fieschi
    Laboratory of Human Genetics of Infectious Diseases, , France, EU
    Eur J Immunol 33:1461-4. 2003
    ..More surprisingly, IL-12 was recently found to be redundant even in defense against primary intection by Mycobacteria and Salmonella in many patients, and against secondary infection by Mycobacteria but not Salmonella in most patients...
  75. ncbi Inborn errors of human STAT1: allelic heterogeneity governs the diversity of immunological and infectious phenotypes
    Stéphanie Boisson-Dupuis
    St Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA
    Curr Opin Immunol 24:364-78. 2012
    ..These experiments of Nature neatly highlight the clinical and immunological impact of the human genetic dissection of infectious phenotypes...
  76. ncbi Interferon gamma receptor 2 gene variants are associated with liver fibrosis in patients with chronic hepatitis C infection
    Bertrand Nalpas
    Unité d Hépatologie, Institut National de la Sante et de la Recherche Medicale, U567, Hopital Cochin, Paris, France
    Gut 59:1120-6. 2010
    ..Only a minority of patients with chronic hepatitis C virus (HCV) infection develops severe liver fibrosis, a process that may be controlled by human genetic factors...
  77. ncbi Kaposi's sarcoma in a child with Wiskott-Aldrich syndrome
    Capucine Picard
    Unité d Immunologie et d Hématologie Pédiatriques AP HP, Hopital Necker Enfants Malades, 149 rue de Sevres, 75015, Paris, EU, France
    Eur J Pediatr 165:453-7. 2006
    ..Kaposi's sarcoma (KS) is rare in childhood. It may be favored by acquired immune deficiencies, but the predisposing factors to KS in other children are unclear...
  78. ncbi Life-threatening infectious diseases of childhood: single-gene inborn errors of immunity?
    Alexandre Alcais
    Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Sante et de la Recherche Medicale, University Paris Descartes, Paris, France
    Ann N Y Acad Sci 1214:18-33. 2010
    ..With the recent advent of new-generation deep resequencing, this model of single-gene variations underlying severe pediatric infectious diseases is experimentally testable...
  79. ncbi The role of IL-12, IL-23 and IFN-gamma in immunity to viruses
    Francesco Novelli
    Laboratory of Human Genetics of Infectious Diseases, Necker Medical School, Rene Descartes University of Paris, INSERM U550, 156 rue de Vaugirard, 75015 Paris, France
    Cytokine Growth Factor Rev 15:367-77. 2004
    ....
  80. ncbi Chronic mucocutaneous candidiasis in humans with inborn errors of interleukin-17 immunity
    Anne Puel
    Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Sante et de la Recherche Medicale, U980, and University Paris Descartes, Necker Medical School, 75015 Paris, France
    Science 332:65-8. 2011
    ..These experiments of nature indicate that human IL-17A and IL-17F are essential for mucocutaneous immunity against C. albicans, but otherwise largely redundant...
  81. ncbi Inherited disorders of human Toll-like receptor signaling: immunological implications
    Cheng-Lung Ku
    Laboratory of Human Genetics of Infectious Diseases, , INSERM U550, Necker Medical School, Paris, France
    Immunol Rev 203:10-20. 2005
    ..Paradoxically, these experiments of nature raise the possibility that the entire set of human TLRs is largely redundant in protective immunity in vivo...
  82. ncbi Human genetics of infectious diseases: between proof of principle and paradigm
    Alexandre Alcais
    Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U550, Paris, France
    J Clin Invest 119:2506-14. 2009
    ..However, in the future, studies in human genetics are likely to establish a new paradigm for infectious diseases...
  83. ncbi Inherited disorders of cytokines
    Capucine Picard
    Unité d Immunologie et d Hématologie Pédiatriques, Hopital Necker Enfants Malades, and Laboratoire de Génétique Humaine des Maladies Infectieuses, Université de Paris René Descartes INSERM U550, Faculte de Medecine Necker, Paris, France
    Curr Opin Pediatr 16:648-58. 2004
    ..Cytokines are soluble mediators involved in the development or function of the immune system. This paper reviews the literature on childhood-onset inherited disorders associated with impaired cytokine-mediated immunity...
  84. ncbi Enteroviral meningoencephalitis after anti-CD20 (rituximab) treatment
    Pierre Quartier
    Unité d immunologie hématologie et rhumatologie pédiatrique, Hopital Necker Enfants Malades, 75 743 Paris cedex 15, France
    Clin Infect Dis 36:e47-9. 2003
    ..We report the occurrence of enteroviral meningoencephalitis following rituximab therapy in 1 child with immune thrombocytopenia and in 1 adult patient with relapsed B cell lymphoma...
  85. ncbi Recurrent staphylococcal cellulitis and subcutaneous abscesses in a child with autoantibodies against IL-6
    Anne Puel
    Laboratoire de Genetique Humaine des Maladies Infectieuses, Institut National de la Sante et de la Recherche Medicale, U550, Paris, France
    J Immunol 180:647-54. 2008
    ..Patients with severe bacterial infections and low serum CRP concentrations should be tested for anti-IL-6 autoantibodies, especially in the presence of other clinical and biological signs of inflammation...
  86. ncbi The NF-kappaB signalling pathway in human diseases: from incontinentia pigmenti to ectodermal dysplasias and immune-deficiency syndromes
    Asma Smahi
    Département de Génétique et Unité de Recherches sur les Handicaps Génétiques de l Enfant INSERM UR 393, Hopital Necker, 149 rue de Sevres, 75743 Paris Cedex 15, France
    Hum Mol Genet 11:2371-5. 2002
    ..Unravelling the molecular bases of other forms of EDA not associated with mutations in NEMO will possibly implicate other components of the NF-kappaB signalling pathway...
  87. ncbi Osteopetrosis, lymphedema, anhidrotic ectodermal dysplasia, and immunodeficiency in a boy and incontinentia pigmenti in his mother
    Sophie Dupuis-Girod
    , , Paris, France
    Pediatrics 109:e97. 2002
    ..In contrast, loss-of-function mutations and hypomorphic mutations may cause IP in females...
  88. ncbi Inherited disorders of NF-kappaB-mediated immunity in man
    Anne Puel
    , , , 75015 Paris, France
    Curr Opin Immunol 16:34-41. 2004
    ..The description of the infectious phenotypes associated with these genetic defects has initiated the forward genetic dissection of NF-kappaB-mediated immunity in man...
  89. ncbi NEMO mutations in 2 unrelated boys with severe infections and conical teeth
    Cheng-Lung Ku
    Laboratory of Human Genetics of Infectious Diseases, , Necker Medical School, Paris, France
    Pediatrics 115:e615-9. 2005
    ..One child had isolated recurrent pneumococcal disease, whereas the other had multiple infections. Our observations indicate that conical incisors should prompt the search for NEMO mutations in boys with unusual infectious diseases...
  90. ncbi Human complete Stat-1 deficiency is associated with defective type I and II IFN responses in vitro but immunity to some low virulence viruses in vivo
    Ariane Chapgier
    , , , , Paris, France
    J Immunol 176:5078-83. 2006
    ..Stat-1 deficiency should be suspected in children with severe infections, notably but not exclusively patients with mycobacterial or viral diseases...
  91. ncbi Successful allogeneic hemopoietic stem cell transplantation in a child who had anhidrotic ectodermal dysplasia with immunodeficiency
    Sophie Dupuis-Girod
    , , , Paris, France
    Pediatrics 118:e205-11. 2006
    ..Hematopoietic stem cell transplantation is well tolerated and efficiently cures the profound immunodeficiency associated with autosomal-dominant anhidrotic ectodermal dysplasia with immunodeficiency...
  92. ncbi Mendelian traits that confer predisposition or resistance to specific infections in humans
    Capucine Picard
    , , , France
    Curr Opin Immunol 18:383-90. 2006
    ..Mutations in other genes even confer resistance to specific pathogens, with no detectable decrease in fitness. These 'experiments of nature' reveal surprising specific interactions between certain human genes and microbial pathogens...
  93. ncbi Evolutionary insights into the high worldwide prevalence of MBL2 deficiency alleles
    Paul Verdu
    CNRS FRE 2849, Unit of Molecular Prevention and Therapy of Human Diseases, Institut Pasteur, Paris, France
    Hum Mol Genet 15:2650-8. 2006
    ..The evolutionary neutrality of MBL2 strongly supports the notion that MBL2 variation does not have strong effects on population fitness, suggesting, therefore, that this lectin is largely redundant in host human defences...
  94. ncbi T cell-dependent activation of dendritic cells requires IL-12 and IFN-gamma signaling in T cells
    Francesc Miro
    , Institut Curie, Paris, France
    J Immunol 177:3625-34. 2006
    ..These data suggest that CD4+ T cell-mediated activation of DCs plays a critical role in the defense against mycobacterial infections in humans...
  95. ncbi A novel primary immunodeficiency with specific natural-killer cell deficiency maps to the centromeric region of chromosome 8
    Celine Eidenschenk
    Laboratory of Human Genetics of Infectious Diseases, University of Paris Rene Descartes-INSERM U550, Necker Medical School, Paris, France
    Am J Hum Genet 78:721-7. 2006
    ..23-q11.21 that was linked to this immunodeficiency (maximum LOD score 4.51). The mapping of the disease-causing genomic region paves the way for the identification of a novel pathway governing NK cell differentiation in humans...
  96. ncbi A novel immunodeficiency associated with hypomorphic RAG1 mutations and CMV infection
    Jean Pierre de Villartay
    Developpement Normal et Pathologique du Systeme Immunitaire, INSERM U429, Paris, France
    J Clin Invest 115:3291-9. 2005
    ..This observation extends the range of clinical and immunological phenotypes associated with RAG mutations, emphasizing the role of the genetic background and microbial environment in determining disease phenotype...
  97. ncbi Two loci control tuberculin skin test reactivity in an area hyperendemic for tuberculosis
    Aurelie Cobat
    Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de Santé et de Recherche Médicale, Paris 75015, France
    J Exp Med 206:2583-91. 2009
    ..tuberculosis infection in endemic areas (TST1) and for the identification of critical regulators of T cell-dependent DTH to tuberculin (TST2)...
  98. ncbi A partial form of recessive STAT1 deficiency in humans
    Ariane Chapgier
    Laboratory of Human Genetics of Infectious Diseases, Necker Faculty, INSERM U550, Paris, France
    J Clin Invest 119:1502-14. 2009
    ..It should be considered in patients with unexplained, severe, but curable intracellular bacterial and viral infections...
  99. ncbi Evolutionary dynamics of human Toll-like receptors and their different contributions to host defense
    Luis B Barreiro
    Institut Pasteur, Human Evolutionary Genetics, CNRS, URA3012, Paris, France
    PLoS Genet 5:e1000562. 2009
    ..The insights gained in this study foster new hypotheses to be tested in clinical and epidemiological genetics of infectious disease...
  100. ncbi Severe cutaneous papillomavirus disease after haemopoietic stem-cell transplantation in patients with severe combined immune deficiency caused by common gammac cytokine receptor subunit or JAK-3 deficiency
    Caroline Laffort
    , , , Paris, France
    Lancet 363:2051-4. 2004
    ..That genetic causes are the only predisposing factor to be identified for severe combined immune deficiency, suggests that natural-killer cells or gammac/JAK-3-dependent signalling in keratinocytes could have a role in anti-HPV immunity...
  101. ncbi FAS-L, IL-10, and double-negative CD4- CD8- TCR alpha/beta+ T cells are reliable markers of autoimmune lymphoproliferative syndrome (ALPS) associated with FAS loss of function
    Aude Magerus-Chatinet
    Inserm U768, Paris, France
    Blood 113:3027-30. 2009
    ..Overall, we showed that determination of the FAS-L represents, together with the IL-10 concentration and the DNT cell percentage, a reliable tool for the diagnosis of ALPS...