Jean Laurent Casanova

Summary

Affiliation: The Rockefeller University
Country: USA

Publications

  1. pmc Human genetic basis of interindividual variability in the course of infection
    Jean Laurent Casanova
    St Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065 Howard Hughes Medical Institute, New York, NY 10065 Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Inserm U1163, Necker Hospital for Sick Children, 75015 Paris, France IMAGINE Institute, Paris Descartes University, 75015 Paris, France Pediatric Hematology and Immunology Unit, Assistance Publique Hopitaux de Paris, Necker Hospital for Sick Children, 75015 Paris, France
    Proc Natl Acad Sci U S A 112:E7118-27. 2015
  2. pmc Severe infectious diseases of childhood as monogenic inborn errors of immunity
    Jean Laurent Casanova
    St Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065 Howard Hughes Medical Institute, New York, NY 10065 Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Inserm U1163, Necker Hospital for Sick Children, 75015 Paris, France IMAGINE Institute, Paris Descartes University, 75015 Paris, France Pediatric Hematology and Immunology Unit, Assistance Publique Hopitaux de Paris, Necker Hospital for Sick Children, 75015 Paris, France
    Proc Natl Acad Sci U S A 112:E7128-37. 2015
  3. pmc Inborn errors of human JAKs and STATs
    Jean Laurent Casanova
    St Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, Rockefeller University Hospital, New York, NY 10065, USA
    Immunity 36:515-28. 2012
  4. pmc 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
  5. ncbi request reprint 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
  6. ncbi request reprint 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
  7. ncbi request reprint 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
    Laboratoire de Genetique Humaine des Maladies Infectieuses, Université de Paris René Descartes Institut National de la Santé et de la Recherche Médicale, Unité Mixte de Recherche R550, Faculte de Medecine Necker Enfants Malades, Paris, France
    J Immunol 176:5078-83. 2006
  8. ncbi request reprint Human leucocyte antigen-identical haematopoietic stem cell transplantation in major histocompatiblity complex class II immunodeficiency: reduced survival correlates with an increased incidence of acute graft-versus-host disease and pre-existing viral infe
    Raffaele Renella
    Unité d Immunologie et Hématologie Pédiatrique, Faculté de Médecine Université Réné Descartes, Paris, France
    Br J Haematol 134:510-6. 2006
  9. ncbi request reprint 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
  10. ncbi request reprint Inherited disorders of human Toll-like receptor signaling: immunological implications
    Cheng Lung Ku
    Laboratory of Human Genetics of Infectious Diseases, University of Paris Rene Descartes, INSERM U550, Necker Medical School, Paris, France
    Immunol Rev 203:10-20. 2005

Detail Information

Publications111 found, 100 shown here

  1. pmc Human genetic basis of interindividual variability in the course of infection
    Jean Laurent Casanova
    St Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065 Howard Hughes Medical Institute, New York, NY 10065 Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Inserm U1163, Necker Hospital for Sick Children, 75015 Paris, France IMAGINE Institute, Paris Descartes University, 75015 Paris, France Pediatric Hematology and Immunology Unit, Assistance Publique Hopitaux de Paris, Necker Hospital for Sick Children, 75015 Paris, France
    Proc Natl Acad Sci U S A 112:E7118-27. 2015
    ....
  2. pmc Severe infectious diseases of childhood as monogenic inborn errors of immunity
    Jean Laurent Casanova
    St Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065 Howard Hughes Medical Institute, New York, NY 10065 Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Inserm U1163, Necker Hospital for Sick Children, 75015 Paris, France IMAGINE Institute, Paris Descartes University, 75015 Paris, France Pediatric Hematology and Immunology Unit, Assistance Publique Hopitaux de Paris, Necker Hospital for Sick Children, 75015 Paris, France
    Proc Natl Acad Sci U S A 112:E7128-37. 2015
    ..This nascent and testable notion has interesting medical and biological implications. ..
  3. pmc Inborn errors of human JAKs and STATs
    Jean Laurent Casanova
    St Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, Rockefeller University Hospital, New York, NY 10065, USA
    Immunity 36:515-28. 2012
    ..Moreover, the high degree of allelic heterogeneity at the human JAK3, TYK2, STAT1, and STAT3 loci has revealed highly diverse immunological and clinical phenotypes, which had not been anticipated...
  4. pmc 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...
  5. ncbi request reprint 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...
  6. ncbi request reprint 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...
  7. ncbi request reprint 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
    Laboratoire de Genetique Humaine des Maladies Infectieuses, Université de Paris René Descartes Institut National de la Santé et de la Recherche Médicale, Unité Mixte de Recherche R550, Faculte de Medecine Necker Enfants Malades, 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...
  8. ncbi request reprint Human leucocyte antigen-identical haematopoietic stem cell transplantation in major histocompatiblity complex class II immunodeficiency: reduced survival correlates with an increased incidence of acute graft-versus-host disease and pre-existing viral infe
    Raffaele Renella
    Unité d Immunologie et Hématologie Pédiatrique, Faculté de Médecine Université Réné Descartes, Paris, France
    Br J Haematol 134:510-6. 2006
    ..We suggest that the reduced survival after HLA-identical HSCT may be caused by the high incidence of pre-existing viral infections and associated with the onset of severe acute GVHD...
  9. ncbi request reprint 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...
  10. ncbi request reprint Inherited disorders of human Toll-like receptor signaling: immunological implications
    Cheng Lung Ku
    Laboratory of Human Genetics of Infectious Diseases, University of Paris Rene Descartes, 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...
  11. pmc Inherited IL-12p40 deficiency: genetic, immunologic, and clinical features of 49 patients from 30 kindreds
    Carolina Prando
    St Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, New York 10065, USA
    Medicine (Baltimore) 92:109-22. 2013
    ..In conclusion, IL-12p40 deficiency is more common than initially thought and should be considered worldwide in patients with MSMD and other intramacrophagic infectious diseases, salmonellosis in particular...
  12. ncbi request reprint Successful allogeneic hemopoietic stem cell transplantation in a child who had anhidrotic ectodermal dysplasia with immunodeficiency
    Sophie Dupuis-Girod
    Unité d Immunologie et d Hématologie Pédiatriques, Institut National de la Santé et de la Recherche Médicale U429, Hopital Necker Enfants Malades, 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...
  13. pmc Haploinsufficiency at the human IFNGR2 locus contributes to mycobacterial disease
    Xiao Fei Kong
    St Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065, USA
    Hum Mol Genet 22:769-81. 2013
    ..The clinical penetrance of AD IFN-γR2 deficiency is incomplete, possibly due, at least partly, to the variability of cellular responses to IFN-γ in these individuals...
  14. pmc A novel homozygous p.R1105X mutation of the AP4E1 gene in twins with hereditary spastic paraplegia and mycobacterial disease
    Xiao Fei Kong
    St Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, New York, USA
    PLoS ONE 8:e58286. 2013
    ..In conclusion, we identified twins with autosomal recessive AP-4 deficiency associated with HSP and mycobacterial disease, suggesting that AP-4 may play important role in the neurological and immunological systems...
  15. ncbi request reprint 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...
  16. ncbi request reprint 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...
  17. pmc Human RHOH deficiency causes T cell defects and susceptibility to EV-HPV infections
    Amandine Crequer
    St Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, New York, USA
    J Clin Invest 122:3239-47. 2012
    ..We conclude that RHOH deficiency leads to T cell defects and persistent EV-HPV infections, suggesting that T cells play a role in the pathogenesis of chronic EV-HPV infections...
  18. pmc 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
    ....
  19. pmc An ACT1 mutation selectively abolishes interleukin-17 responses in humans with chronic mucocutaneous candidiasis
    Bertrand Boisson
    St Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065, USA Electronic address
    Immunity 39:676-86. 2013
    ..Overall, human IL-17A and IL-17F depend on ACT1 to mediate protective mucocutaneous immunity. Moreover, other ACT1-dependent IL-17 cytokines seem to be largely redundant in host defense. ..
  20. ncbi request reprint 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...
  21. pmc The NEMO mutation creating the most-upstream premature stop codon is hypomorphic because of a reinitiation of translation
    Anne Puel
    Laboratoire de Genetique Humaine des Maladies Infectieuses, Faculte de Medecine Necker Enfants Malades, 75015 Paris, France
    Am J Hum Genet 78:691-701. 2006
    ..The residual production of an NH(2)-truncated NEMO protein was sufficient for normal fetal development and for the subsequent normal development of skin appendages but was insufficient for the development of protective immune responses...
  22. pmc 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...
  23. pmc Partial IFN-γR2 deficiency is due to protein misfolding and can be rescued by inhibitors of glycosylation
    Marcela Moncada-Vélez
    St Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY
    Blood 122:2390-401. 2013
    ..Moreover, inhibitors of glycosylation might be beneficial in patients with complete or partial IFN-γR2 deficiency due to misfolding or gain-of-glycosylation receptors...
  24. pmc Immunodeficiency, autoinflammation and amylopectinosis in humans with inherited HOIL-1 and LUBAC deficiency
    Bertrand Boisson
    St Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, New York, USA
    Nat Immunol 13:1178-86. 2012
    ..These data suggest that LUBAC regulates NF-κB-dependent IL-1β responses differently in different cell types...
  25. ncbi request reprint 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...
  26. ncbi request reprint 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...
  27. pmc 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...
  28. doi request reprint 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...
  29. ncbi request reprint 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
    ....
  30. pmc Human blood IgM "memory" B cells are circulating splenic marginal zone B cells harboring a prediversified immunoglobulin repertoire
    Sandra Weller
    Institut National de Santé et de la Recherche Médicale U373, Paris, France
    Blood 104:3647-54. 2004
    ..It is therefore proposed that these IgM(+)IgD(+)CD27(+) B cells provide the splenic marginal zone with a diversified and protective preimmune repertoire in charge of the responses against encapsulated bacteria...
  31. ncbi request reprint Osteopetrosis, lymphedema, anhidrotic ectodermal dysplasia, and immunodeficiency in a boy and incontinentia pigmenti in his mother
    Sophie Dupuis-Girod
    Unité d Immunologie et d Hé matologie pédiatriques, Hopital Necker Enfants Malades, Paris, France
    Pediatrics 109:e97. 2002
    ..In contrast, loss-of-function mutations and hypomorphic mutations may cause IP in females...
  32. pmc 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...
  33. pmc The human gene connectome as a map of short cuts for morbid allele discovery
    Yuval Itan
    St Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065, USA
    Proc Natl Acad Sci U S A 110:5558-63. 2013
    ..rockefeller.edu/casanova/HGC and should facilitate the genome-wide selection of disease-causing candidate alleles for experimental validation...
  34. pmc NEMO is a key component of NF-κB- and IRF-3-dependent TLR3-mediated immunity to herpes simplex virus
    Magali Audry
    St Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY10065, USA
    J Allergy Clin Immunol 128:610-7.e1-4. 2011
    ....
  35. pmc Inherited human OX40 deficiency underlying classic Kaposi sarcoma of childhood
    Minji Byun
    St Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065, USA
    J Exp Med 210:1743-59. 2013
    ..Together, these findings suggest that human OX40 is necessary for robust CD4(+) T cell memory and confers apparently selective protective immunity against HHV-8 infection in endothelial cells. ..
  36. pmc 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...
  37. ncbi request reprint 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...
  38. pmc 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...
  39. ncbi request reprint 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...
  40. pmc 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...
  41. ncbi request reprint NEMO mutations in 2 unrelated boys with severe infections and conical teeth
    Cheng Lung Ku
    Laboratory of Human Genetics of Infectious Diseases, University of Paris René Descartes Institut National de la Santé et de la Recherche Médicale U550, 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...
  42. ncbi request reprint 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
    ....
  43. ncbi request reprint 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...
  44. pmc 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...
  45. pmc EVER2 deficiency is associated with mild T-cell abnormalities
    Amandine Crequer
    St Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA
    J Clin Immunol 33:14-21. 2013
    ..Our findings suggest that EVER2-deficient patients display mild T-cell abnormalities. It remains unclear whether these abnormalities result from EVER deficiency, chronic EV-HPV infection, or both...
  46. pmc TLR3 immunity to infection in mice and humans
    Shen Ying Zhang
    St Giles Laboratory of Human Genetics of Infectious Diseases, The Rockefeller University, New York, NY 10065, USA
    Curr Opin Immunol 25:19-33. 2013
    ..These studies neatly illustrate the value of combining genetic studies of experimental infections in mice and natural infections in humans, to elucidate the biological function of host molecules in protective immunity...
  47. pmc 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...
  48. pmc A mild form of SLC29A3 disorder: a frameshift deletion leads to the paradoxical translation of an otherwise noncoding mRNA splice variant
    Alexandre Bolze
    St Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, New York, United States of America
    PLoS ONE 7:e29708. 2012
    ..This study highlights the 'rescue' role played by a normally noncoding mRNA splice variant of SLC29A3, uncovering a new mechanism by which frameshift mutations can be hypomorphic...
  49. pmc 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. pmc Heterozygous TBK1 mutations impair TLR3 immunity and underlie herpes simplex encephalitis of childhood
    Melina Herman
    St Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065, USA
    J Exp Med 209:1567-82. 2012
    ..These data identify AD partial TBK1 deficiency as a new genetic etiology of childhood HSE, indicating that TBK1 is essential for the TLR3- and IFN-dependent control of HSV-1 in the CNS...
  51. ncbi request reprint T cell-dependent activation of dendritic cells requires IL-12 and IFN-gamma signaling in T cells
    Francesc Miro
    Institut National de la Santé et de la Recherche Medicale Unité 653, 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...
  52. pmc 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...
  53. pmc 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...
  54. pmc 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...
  55. pmc 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 René 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...
  56. ncbi request reprint Septicemia without sepsis: inherited disorders of nuclear factor-kappa B-mediated inflammation
    Horst von Bernuth
    Laboratory of Human Genetics of Infectious Diseases, University of Paris René Descartes INSERM U550, Necker Medical School, Paris, France
    Clin Infect Dis 41:S436-9. 2005
    ..An underlying defect in NF- kappa B activation should be suspected in children with bacterial septicemia accompanied by mild signs of inflammation...
  57. ncbi request reprint Autosomal-dominant primary immunodeficiencies
    Tatiana Lawrence
    Laboratory of Human Genetics of Infectious Diseases, University of Paris, René Descartes INSERM U550, Paris, France
    Curr Opin Hematol 12:22-30. 2005
    ..These recent data suggest that many more autosomal-dominant PIDs are likely to be identified in the near future...
  58. pmc The proteome of Toll-like receptor 3-stimulated human immortalized fibroblasts: implications for susceptibility to herpes simplex virus encephalitis
    Rebeca Pérez de Diego
    Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Necker Medical School, and Pediatric Hematology Immunology Unit, Necker Hospital, Paris, France
    J Allergy Clin Immunol 131:1157-66. 2013
    ..Moreover, many patients do not display any TLR3-IFN-related fibroblastic phenotype...
  59. pmc Ribosomal protein SA haploinsufficiency in humans with isolated congenital asplenia
    Alexandre Bolze
    St Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller University, New York, NY 10065, USA
    Science 340:976-8. 2013
    ..RPSA encodes ribosomal protein SA, a component of the small subunit of the ribosome. This discovery establishes an essential role for RPSA in human spleen development...
  60. pmc 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...
  61. ncbi request reprint 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...
  62. pmc The human gene damage index as a gene-level approach to prioritizing exome variants
    Yuval Itan
    St Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065
    Proc Natl Acad Sci U S A 112:13615-20. 2015
    ..e., assessing de novo mutations in genes likely to be disease causing). The GDI server, data, and software are freely available to noncommercial users from lab.rockefeller.edu/casanova/GDI. ..
  63. pmc Impaired intrinsic immunity to HSV-1 in human iPSC-derived TLR3-deficient CNS cells
    Fabien G Lafaille
    Center for Stem Cell Biology, Sloan Kettering Institute for Cancer Research, New York, New York 10065, USA
    Nature 491:769-73. 2012
    ..Thus, impaired TLR3- and UNC-93B-dependent IFN-α/β intrinsic immunity to HSV-1 in the CNS, in neurons and oligodendrocytes in particular, may underlie the pathogenesis of HSE in children with TLR3-pathway deficiencies...
  64. pmc 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...
  65. doi request reprint 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...
  66. pmc A novel form of human STAT1 deficiency impairing early but not late responses to interferons
    Xiao Fei Kong
    St Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY 10065, USA
    Blood 116:5895-906. 2010
    ..Thus, the early cellular responses to human interferons are critically dependent on the amount of STAT1 and are essential for the appropriate control of mycobacterial and viral infections...
  67. pmc 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...
  68. pmc Whole-exome sequencing-based discovery of STIM1 deficiency in a child with fatal classic Kaposi sarcoma
    Minji Byun
    St Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065, USA
    J Exp Med 207:2307-12. 2010
    ....
  69. pmc 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...
  70. pmc Paternal uniparental isodisomy of chromosome 6 causing a complex syndrome including complete IFN-gamma receptor 1 deficiency
    Carolina Prando
    Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, New York, USA
    Am J Med Genet A 152:622-9. 2010
    ..This is the first reported case of uniparental disomy resulting in a complex phenotype including MSMD...
  71. ncbi request reprint 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...
  72. pmc 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...
  73. ncbi request reprint Severe combined immunodeficiency and microcephaly in siblings with hypomorphic mutations in DNA ligase IV
    Dietke Buck
    INSERM, Hopital Necker Enfants Malades, U429, Unité Développement Normal et Pathologique du Système Immunitaire, Paris, France
    Eur J Immunol 36:224-35. 2006
    ..These observations contrast with the severity of the clinical immunodeficiency, suggesting that Lig4 may have additional critical roles in lymphocyte survival beyond V(D)J recombination...
  74. pmc Primary immunodeficiencies underlying fungal infections
    Fanny Lanternier
    aLaboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U980 Necker Medical School, Imagine Institute and Paris Descartes University, Sorbonne Paris Cité bInfectious Diseases and Tropical Medicine Unit, Necker Enfants Malades Hospital, AP HP and Paris Descartes University cPasteur Institute, National Reference Center of Invasive Mycoses and Antifungals, Paris, France dSt Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, New York, USA eStudy Center for Immunodeficiency fPediatric Hematology Immunology Unit, Necker Enfants Malades Hospital, AP HP, and Paris Descartes University, Sorbonne Paris Cité, Paris, France
    Curr Opin Pediatr 25:736-47. 2013
    ..Finally, we suggest that other fungal infections may also result from hitherto unknown inborn errors of immunity, at least in some patients with no known risk factors...
  75. pmc Whole-genome sequencing is more powerful than whole-exome sequencing for detecting exome variants
    Aziz Belkadi
    Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Inserm U1163, 75015 Paris, France Paris Descartes University, Imagine Institute, 75015 Paris, France
    Proc Natl Acad Sci U S A 112:5473-8. 2015
    ..Although currently more expensive, WGS is more powerful than WES for detecting potential disease-causing mutations within WES regions, particularly those due to SNVs. ..
  76. pmc 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...
  77. pmc Mycobacterial disease and impaired IFN-γ immunity in humans with inherited ISG15 deficiency
    Dusan Bogunovic
    St Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA
    Science 337:1684-8. 2012
    ..This experiment of nature shows that human ISGylation is largely redundant for antiviral immunity, but that ISG15 plays an essential role as an IFN-γ-inducing secreted molecule for optimal antimycobacterial immunity...
  78. pmc 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...
  79. pmc 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...
  80. ncbi request reprint 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...
  81. ncbi request reprint 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...
  82. pmc HGCS: an online tool for prioritizing disease-causing gene variants by biological distance
    Yuval Itan
    St, Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA
    BMC Genomics 15:256. 2014
    ..There is currently no effective gene-centric online interface for this purpose...
  83. pmc Inborn errors of the development of human natural killer cells
    Emmanuelle Jouanguy
    aLaboratory of Human Genetics of Infectious Diseases, Necker Branch, Inserm U980, Necker Hospital for Sick Children bParis Descartes University, Imagine Institute, Paris, France cSt Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, USA dCenter for Infectious Medicine, Karolinska Institutet, Karolinska University Hospital Huddinge, Stockholm, Sweden eCentre d Immunologie de Marseille Luminy, INSERM U1104 fCNRS UMR7280 gAix Marseille Université, UM2 hService d Immunologie, Assistance Publique Hopitaux de Marseille, Hopital de la Conception, Marseille iPediatric Hematology Immunology Unit, Necker Hospital, Paris, France
    Curr Opin Allergy Clin Immunol 13:589-95. 2013
    ..We review here recent progress in the genetic dissection of these NK deficiencies (NKDs)...
  84. pmc 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...
  85. pmc 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...
  86. pmc Inborn errors of human IL-17 immunity underlie chronic mucocutaneous candidiasis
    Anne Puel
    Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Inserm U980 and University Paris Descartes, Necker Medical School, Paris Sorbonne Cité, Paris, France
    Curr Opin Allergy Clin Immunol 12:616-22. 2012
    ..Patients with isolated CMC (CMCD) rarely display any other severe disease. We review here recent progress in the genetic dissection of these three types of inherited CMC...
  87. pmc Human TYK2 deficiency: Mycobacterial and viral infections without hyper-IgE syndrome
    Alexandra Y Kreins
    St Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065 Weill Cornell Graduate School of Medical Sciences, New York, NY 10065
    J Exp Med 212:1641-62. 2015
    ..Moreover, impaired IL-6 responses and HIES do not appear to be intrinsic features of TYK2 deficiency in humans. ..
  88. pmc Inherited MST1 deficiency underlies susceptibility to EV-HPV infections
    Amandine Crequer
    St Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, New York, USA
    PLoS ONE 7:e44010. 2012
    ..Together with the recent discovery of RHOH deficiency, they suggest that T cells are involved in the control of EV-HPVs, at least in some individuals...
  89. pmc IL-12Rβ1 deficiency in two of fifty children with severe tuberculosis from Iran, Morocco, and Turkey
    Stéphanie Boisson-Dupuis
    St Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, New York, United States of America
    PLoS ONE 6:e18524. 2011
    ..We aimed to estimate the fraction of children developing severe tuberculosis due to IL-12Rβ1 deficiency in areas endemic for tuberculosis and where parental consanguinity is common...
  90. doi request reprint 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...
  91. pmc Inborn errors of anti-viral interferon immunity in humans
    Vanessa Sancho-Shimizu
    Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Sante et de la Recherche Medicale, U980, Necker Medical School, Paris 75015, France
    Curr Opin Virol 1:487-96. 2011
    ..These recent discoveries highlight the importance of human type I and III IFNs in protective immunity against viruses, including the TLR3-IFN pathway in protection against HSE...
  92. pmc Immunity to infection in IL-17-deficient mice and humans
    Sophie Cypowyj
    St Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA
    Eur J Immunol 42:2246-54. 2012
    ....
  93. pmc 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...
  94. pmc Age-dependent association between pulmonary tuberculosis and common TOX variants in the 8q12-13 linkage region
    Audrey V Grant
    Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale U980, Paris, France
    Am J Hum Genet 92:407-14. 2013
    ..SNP rs2726600 is located in a transcription-factor binding site in the 3' region of TOX, and further functional explorations will focus on CD4 T lymphocytes...
  95. doi request reprint 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...
  96. pmc Human HOIP and LUBAC deficiency underlies autoinflammation, immunodeficiency, amylopectinosis, and lymphangiectasia
    Bertrand Boisson
    St Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY 10065
    J Exp Med 212:939-51. 2015
    ..Our findings show that human HOIP is essential for the assembly and function of LUBAC and for various processes governing inflammation and immunity in both hematopoietic and nonhematopoietic cells...
  97. doi request reprint Mendelian predisposition to herpes simplex encephalitis
    Shen Ying Zhang
    Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY, USA Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM, Paris, France Université Paris René Descartes, Necker Medical School, Paris, France
    Handb Clin Neurol 112:1091-7. 2013
    ..The TLR3-UNC-93B-dependent production of IFN-α/β and IFN-λ is essential to confer protective immunity to HSV-1 in the central nervous system during the course of primary infection in childhood...
  98. pmc Guidelines for genetic studies in single patients: lessons from primary immunodeficiencies
    Jean Laurent Casanova
    St Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065 Howard Hughes Medical Institute, New York, NY 10065 Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Inserm U1163, Necker Hospital for Sick Children, 75015 Paris, France Paris Descartes University, Imagine Institute, 75015 Paris, France Pediatric Hematology Immunology Unit, Necker Hospital for Sick Children, 75015 Paris, France
    J Exp Med 211:2137-49. 2014
    ....
  99. pmc Mycobacterium simiae infection in two unrelated patients with different forms of inherited IFN-γR2 deficiency
    Ruben Martinez-Barricarte
    St Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA
    J Clin Immunol 34:904-9. 2014
    ..These two cases are the first of IFN-γR2 deficiency associated with M. simiae infection to be described. ..
  100. pmc ISG15: leading a double life as a secreted molecule
    Dusan Bogunovic
    St Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065, USA
    Exp Mol Med 45:e18. 2013
    ....
  101. pmc Infectious disease. Life-threatening influenza and impaired interferon amplification in human IRF7 deficiency
    Michael J Ciancanelli
    St Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA
    Science 348:448-53. 2015
    ..They also show that severe influenza may result from single-gene inborn errors of immunity. ..