Jean-Laurent Casanova

Jean-Laurent Casanova

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Jean-Laurent Casanova

Jean-Laurent Casanova

Publications by authors named "Jean-Laurent Casanova"

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100Publications

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Epithelial barrier dysfunction in desmoglein-1 deficiency.

J Allergy Clin Immunol 2018 Aug 27;142(2):702-706.e7. Epub 2018 Apr 27.

Laboratory of Genetics of Monogenic Auto-inflammatory Diseases, Necker Branch, U1163, Necker-Enfants Malades Hospital (AP-HP), Paris Descartes-Sorbonne Paris Cité University, Imagine Institute, Paris, France. Electronic address:

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August 2018

Human hyper-IgE syndrome: singular or plural?

Mamm Genome 2018 Aug 9. Epub 2018 Aug 9.

St Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY, USA.

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August 2018

Epidermodysplasia verruciformis: Genetic heterogeneity and novel EVER1 and EVER2 mutations revealed by genome-wide analysis.

J Invest Dermatol 2018 Jul 20. Epub 2018 Jul 20.

Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College, and Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, PA, USA. Electronic address:

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July 2018

Severe BCG-osis Misdiagnosed as Multidrug-Resistant Tuberculosis in an IL-12Rβ1-Deficient Peruvian Girl.

J Clin Immunol 2018 Jul 23. Epub 2018 Jul 23.

Functional Unit of Clinical Immunology and Primary Immunodeficiencies, Hospital Sant Joan de Déu, University of Barcelona, Pediatric Research Institute Sant Joan de Déu, Barcelona, Spain.

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July 2018

Lessons learned from the study of human inborn errors of innate immunity.

J Allergy Clin Immunol 2018 Jul 31. Epub 2018 Jul 31.

Laboratory of Inborn Errors of Immunity, Department of Immunology and Microbiology, KU Leuven, Leuven, Belgium; Department of Pediatrics, University Hospitals Leuven, Leuven, Belgium. Electronic address:

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July 2018

Editorial.

J Clin Immunol 2018 Jun 19. Epub 2018 Jun 19.

The Feinstein Institute for Medical Research, Manhasset, NY, USA.

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June 2018

Epidermodysplasia Verruciformis: Inborn Errors of Immunity to Human Beta-Papillomaviruses.

Front Microbiol 2018 12;9:1222. Epub 2018 Jun 12.

Department of Biomedicine, University Hospital of Basel, University of Basel, Basel, Switzerland.

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June 2018

Autosomal Dominant IFN-γR1 Deficiency Presenting with both Atypical Mycobacteriosis and Tuberculosis in a BCG-Vaccinated South African Patient.

J Clin Immunol 2018 May 18;38(4):460-463. Epub 2018 May 18.

DST/NRF Centre of Excellence for Biomedical Tuberculosis Research; South African Medical Research Council Centre for Tuberculosis Research; Division of Molecular Biology and Human Genetics, Faculty of Medicine and Health Sciences, Stellenbosch University, PO Box 241, 8000, Francie van Zijl Drive, Tygerberg, Cape Town, 7505, South Africa.

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May 2018

Human genetics of infectious diseases: Unique insights into immunological redundancy.

Semin Immunol 2018 Apr 16;36:1-12. Epub 2017 Dec 16.

St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Inserm U1163, Necker Hospital for Sick Children, Paris, France, EU; Paris Descartes University, Imagine Institute, Paris, France, EU. Electronic address:

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April 2018

Adaptive immunity by convergent evolution.

Nat Rev Immunol 2018 Apr;18(5):294

The Rockefeller University, New York, USA.

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April 2018

Microdeletion on chromosome 8p23.1 in a familial form of severe Buruli ulcer.

PLoS Negl Trop Dis 2018 04 30;12(4):e0006429. Epub 2018 Apr 30.

Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale (INSERM) UMR-1163, Paris, France.

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April 2018

STAT1 Gain-of-Function and Dominant Negative STAT3 Mutations Impair IL-17 and IL-22 Immunity Associated with CMC.

J Invest Dermatol 2018 Mar 18;138(3):711-714. Epub 2017 Oct 18.

Chair and Institute of Environmental Medicine, UNIKA-T, Technical University Munich and Helmholtz Zentrum München-German Research Center for Environmental Health, Augsburg, Germany; CK Care, Christine Kühne Center for Allergy Research and Education, Davos, Switzerland; Outpatient Clinic for Environmental Diseases, Klinikum Augsburg, Germany. Electronic address:

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March 2018

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

Front Pediatr 2018 2;6:42. Epub 2018 Mar 2.

Division of Rheumatology, Department of Pediatrics, Medical College of Wisconsin, Milwaukee, WI, United States.

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March 2018

Inborn Errors of RNA Lariat Metabolism in Humans with Brainstem Viral Infection.

Cell 2018 Feb;172(5):952-965.e18

St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065, USA; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris 75015, France; Paris Descartes University, Imagine Institute, Paris 75015, France; Howard Hughes Medical Institute, New York, NY 10065, USA; Pediatric Immunology-Hematology Unit, Necker Hospital for Sick Children, Paris 75015, France.

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February 2018

The 2017 IUIS Phenotypic Classification for Primary Immunodeficiencies.

J Clin Immunol 2018 Jan 11;38(1):129-143. Epub 2017 Dec 11.

Division of Allergy Immunology, Department of Pediatrics, The Children's Hospital of Philadelphia, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA.

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January 2018

International Union of Immunological Societies: 2017 Primary Immunodeficiency Diseases Committee Report on Inborn Errors of Immunity.

J Clin Immunol 2018 Jan 11;38(1):96-128. Epub 2017 Dec 11.

Division of Allergy Immunology, Department of Pediatrics, The Children's Hospital of Philadelphia, University of Pennsylvania Perelman School of Medicine, ARC 1216-I 3615 Civic Center Blvd, Philadelphia, PA, 19104, USA.

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January 2018

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

Curr Opin Microbiol 2017 Dec 10;40:46-57. Epub 2017 Nov 10.

St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065, USA; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, 75015 Paris, EU, France; Paris Descartes University, Imagine Institute, 75015 Paris, EU, France. Electronic address:

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December 2017

Inherited IL-12Rβ1 Deficiency in a Child With BCG Adenitis and Oral Candidiasis: A Case Report.

Pediatrics 2017 Nov 12;140(5). Epub 2017 Oct 12.

Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Imagine Institute.

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November 2017

Pathogenesis of infections in HIV-infected individuals: insights from primary immunodeficiencies.

Curr Opin Immunol 2017 Oct 6;48:122-133. Epub 2017 Oct 6.

Pediatric Hematology and Immunology Unit, Hôpital Necker Enfants Malades, AP-HP, Paris, France; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM, Hôpital Necker Enfants Malades, Paris, France; Paris Descartes University, Imagine Institute, Paris, France; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA; Howard Hughes Medical Institute, New York, NY, USA.

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October 2017

IL12Rβ1 defect presenting with massive intra-abdominal lymphadenopathy due to Mycobacterium intracellulare infection.

Asian Pac J Allergy Immunol 2017 Sep;35(3):161-165

Marmara University School of Medicine, Department of Pediatrics, Division of Pediatric Infectious Diseases, Istanbul, Turkey Medicine, Department of Pediatrics, Division of Pediatric Allergy and Immunology.

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September 2017

T-cell Responses to HSV-1 in Persons Who Have Survived Childhood Herpes Simplex Encephalitis.

Pediatr Infect Dis J 2017 Aug;36(8):741-744

From the *Department of Medicine, University of Washington, Seattle, Washington; †Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, University Paris Descartes, Imagine Institute, Paris 75015, France; ‡St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, New York; §Department of Laboratory Medicine, University of Washington, ¶Department of Global Health, University of Washington, ‖Vaccine and Infectious Diseases Division, Fred Hutchinson Cancer Research Center, and **Benaroya Research Institute, Seattle, Washington.

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August 2017

Recurrent elevated liver transaminases and acute liver failure in two siblings with novel bi-allelic mutations of NBAS.

Eur J Med Genet 2017 Aug 30;60(8):426-432. Epub 2017 May 30.

Centro de Desenvolvimento da Criança, Hospital Pediátrico, CHUC, Coimbra, Portugal; Serviço de Bioquímica, Faculdade de Medicina, Universidade de Coimbra, Portugal.

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August 2017

DOCK8 Drives Src-Dependent NK Cell Effector Function.

J Immunol 2017 Aug 9. Epub 2017 Aug 9.

Immune Defence Laboratory, Cancer Immunology Division, Peter MacCallum Cancer Centre, Melbourne, Victoria 3000, Australia;

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August 2017

Human IκBα Gain of Function: a Severe and Syndromic Immunodeficiency.

J Clin Immunol 2017 Jul 9;37(5):397-412. Epub 2017 Jun 9.

St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, USA.

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July 2017

Visceral leishmaniasis in two patients with IL-12p40 and IL-12Rβ1 deficiencies.

Pediatr Blood Cancer 2017 Jun 22;64(6). Epub 2016 Nov 22.

Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale, Paris, France.

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June 2017

A novel kindred with inherited STAT2 deficiency and severe viral illness.

J Allergy Clin Immunol 2017 Jun 10;139(6):1995-1997.e9. Epub 2017 Jan 10.

Department of Immunology and Microbiology, Autoimmune Genetics Laboratory, Vlaams Instituut Biotechnologie and KU Leuven, Leuven, Flanders, Belgium. Electronic address:

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June 2017

Disseminated Bacillus Calmette-Guérin Osteomyelitis in Twin Sisters Related to STAT1 Gene Deficiency.

Pediatr Dev Pathol 2017 Jun 27;20(3):255-261. Epub 2017 Jan 27.

4 Laboratory of Human Genetics of Infectious Diseases, Institut National de la Santé et de la Recherche Médicale, Paris, France.

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June 2017

A gain-of-function mutation of STAT1: A novel genetic factor contributing to chronic mucocutaneous candidiasis.

Acta Microbiol Immunol Hung 2017 Jun 9;64(2):191-201. Epub 2017 Jun 9.

1 Department of Allergy and Clinical Immunology, Rasool-e-Akram Hospital, Iran University of Medical Sciences , Tehran, Iran.

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June 2017

Autosomal Recessive Cardiomyopathy Presenting as Acute Myocarditis.

J Am Coll Cardiol 2017 Apr;69(13):1653-1665

St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, New York; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France; Paris Descartes University, Sorbonne Paris Cité, Imagine Institute, Paris, France; Pediatric Immunology-Hematology Unit, AP-HP, Necker Hospital for Sick Children, Paris, France; Howard Hughes Medical Institute, The Rockefeller University, New York, New York.

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April 2017

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

Front Pediatr 2017 28;5:83. Epub 2017 Apr 28.

Division of Rheumatology, Department of Pediatrics, Medical College of Wisconsin, Milwaukee, WI, USA.

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April 2017

Dedicator of cytokinesis 8-deficient CD4 T cells are biased to a T2 effector fate at the expense of T1 and T17 cells.

J Allergy Clin Immunol 2017 Mar 20;139(3):933-949. Epub 2016 Aug 20.

Immunology Division, Garvan Institute of Medical Research, Darlinghurst, Australia; St Vincent's Clinical School, University of New South Wales, Darlinghurst, Australia. Electronic address:

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March 2017

Human Adaptive Immunity Rescues an Inborn Error of Innate Immunity.

Cell 2017 Feb;168(5):789-800.e10

Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, 75015 Paris, France; Paris Descartes University, Imagine Institute, 75015 Paris, France; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065, USA. Electronic address:

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February 2017

AD Hyper-IgE Syndrome Due to a Novel Loss-of-Function Mutation in STAT3: a Diagnostic Pursuit Won by Clinical Acuity.

J Clin Immunol 2017 Jan 14;37(1):12-17. Epub 2016 Nov 14.

Department of Immunology and Microbiology, Childhood Immunology, University Hospitals Leuven and KU Leuven, Leuven, Belgium.

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January 2017

Gain-of-function mutation in PIK3R1 in a patient with a narrow clinical phenotype of respiratory infections.

Clin Immunol 2016 Dec 28;173:117-120. Epub 2016 Sep 28.

Laboratory of Immunogenetics of Diseases, IdiPAZ Institute for Health Research, La Paz University Hospital, Madrid, Spain; Department of Immunology, Complutense University School of Medicine, Hospital 12 de Octubre Health Research Institute, Madrid, Spain. Electronic address:

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December 2016

Chronic mucocutaneous candidiasis disease associated with inborn errors of IL-17 immunity.

Clin Transl Immunology 2016 Dec 2;5(12):e114. Epub 2016 Dec 2.

Department of Pediatrics, Hiroshima University Graduate School of Biomedical and Health Sciences , Hiroshima, Japan.

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December 2016

Transduction of Herpesvirus saimiri-Transformed T Cells with Exogenous Genes of Interest.

Curr Protoc Immunol 2016 Nov 1;115:7.21C.1-7.21C.12. Epub 2016 Nov 1.

St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, New York.

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November 2016

Leukocyte Adhesion Deficiency Type 1 (LAD1) with Expressed but Nonfunctional CD11/CD18.

J Clin Immunol 2016 10 4;36(7):627-30. Epub 2016 Aug 4.

Department of Immunology and Rheumatology, "Juan Pedro Garrahan" National Hospital of Pediatrics, Combate de los Pozos No. 1881 (CPA: 1245), Buenos Aires, Argentina.

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October 2016

Exome and genome sequencing for inborn errors of immunity.

J Allergy Clin Immunol 2016 Oct;138(4):957-969

St Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France; Paris Descartes University, Imagine Institute, Paris, France; Howard Hughes Medical Institute, New York, NY; Pediatric Hematology and Immunology Unit, Assistance Publique-Hôpitaux de Paris, Necker Hospital for Sick Children, Paris, France.

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October 2016

Mycobacterial disease in patients with chronic granulomatous disease: A retrospective analysis of 71 cases.

J Allergy Clin Immunol 2016 07 28;138(1):241-248.e3. Epub 2016 Feb 28.

Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale, Paris, France; Paris Descartes University, Imagine Institute, Paris, France; Center for the Study of Primary Immunodeficiencies, Assistance Publique-Hôpitaux de Paris (AP-HP), Necker Hospital for Sick Children, Paris, France; St Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, the Rockefeller University, New York, NY. Electronic address:

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July 2016

Genetic Diagnosis Using Whole Exome Sequencing in Common Variable Immunodeficiency.

Front Immunol 2016 13;7:220. Epub 2016 Jun 13.

Immunology Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA; Division of Clinical Immunology, Department of Medicine, Icahn School of Medicine at Mount Sinai, New York, NY, USA.

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July 2016

Interferon-gamma-dependent Immunity in Bacillus Calmette-Guérin Vaccine Osteitis Survivors.

Pediatr Infect Dis J 2016 06;35(6):690-4

From the *Center for Child Health Research, University of Tampere and University Hospital and †School of Health Sciences, University of Tampere, Tampere, Finland; ‡Department of Pediatrics, University Hospital, Kuopio, Finland; §Department of Infectious Disease Surveillance and Control, National Institute for Health and Welfare, ¶Department of Pediatrics, University of Turku and University Hospital, and ‖Department of Medical Microbiology and Immunology, University of Turku, Turku, Finland; **St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University and ††Howard Hughes Medical Institute, New York, NY; and ‡‡Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, §§Paris Descartes University, Imagine Institute, ¶¶Pediatric Hematology-Immunology Unit, Necker Hospital for Sick Children, and ‖‖Center for the Study of Primary Immunodeficiencies, Paris AP-HP, Necker-Enfants Malades Hospital, Paris, France, EU.

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June 2016

Yellow fever vaccine: worthy friend or stealthy foe?

Expert Rev Vaccines 2016 06;15(6):681-91

b St. Giles Laboratory of Human Genetics of Infectious Diseases , The Rockefeller University , New York , NY , USA.

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June 2016

Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype.

Blood 2016 06 25;127(25):3154-64. Epub 2016 Apr 25.

Paris Descartes University, Sorbonne Paris Cité, Institut Imagine, Paris, France; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR1163, Necker Medical School, Paris, France; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY; Department of Infectious and Tropical Diseases, Necker-Enfants Malades Hospital, AP-HP, Paris, France.

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June 2016

Human TBK1: A Gatekeeper of Neuroinflammation.

Trends Mol Med 2016 06;22(6):511-527

Department of Virology, Division of Medicine, Imperial College London, Norfolk Place, London W2 1 PG, UK; Department of Pediatrics, Division of Medicine, Imperial College London, Norfolk Place, London W2 1 PG, UK. Electronic address:

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June 2016

Whole-exome sequencing to analyze population structure, parental inbreeding, and familial linkage.

Proc Natl Acad Sci U S A 2016 06 31;113(24):6713-8. Epub 2016 May 31.

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; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY 10065;

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June 2016

A human inborn error connects the α's.

Nat Immunol 2016 May;17(5):472-4

St. Giles Laboratory of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, New York, USA; the Howard Hughes Medical Institute, New York, New York, USA; the Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France; the Imagine Institute, Paris Descartes University, Paris, France; and the Pediatric Hematology and Immunology Unit, Assistance Publique-Hôpitaux de Paris, Necker Hospital for Sick Children, Paris, France.

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May 2016

Erratum to: Severe Mycobacterial Diseases in a Patient with GOF IκBα Mutation Without EDA.

J Clin Immunol 2016 Apr;36(3):335

St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, 1230 York Avenue, New York, NY, 10065, USA.

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April 2016

Human studies at JEM: Immunology and beyond.

J Exp Med 2016 Apr 14;213(4):467-8. Epub 2016 Mar 14.

Editors, The Journal of Experimental Medicine

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April 2016

IL-12 drives functional plasticity of human group 2 innate lymphoid cells.

J Exp Med 2016 Apr 14;213(4):569-83. Epub 2016 Mar 14.

Innate Immunity Unit, Institut Pasteur, 75724 Paris, France Institut National de la Santé et de la Recherche Médicale (INSERM) U1223, 75015 Paris, France

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April 2016

Mendelian Susceptibility to Mycobacterial Disease due to IL-12Rβ1 Deficiency in Three Iranian Children.

Iran J Public Health 2016 Mar;45(3):370-5

Immunology, Asthma and Allergy Research Institute, Tehran University of Medical Sciences, Tehran, Iran.

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March 2016

Host genetics of severe influenza: from mouse Mx1 to human IRF7.

Curr Opin Immunol 2016 Feb 4;38:109-20. Epub 2016 Jan 4.

St Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM-U1163, Necker Hospital for Sick Children, Paris, France; Paris Descartes University, Imagine Institute, Paris, France; Howard Hughes Medical Institute, New York, NY, USA; Pediatric Hematology-Immunology Unit, Necker Hospital for Sick Children, Paris, France.

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February 2016

Actin polymerisation after FCγR stimulation of human fibroblasts is BCL10 independent.

Clin Immunol 2016 Feb 14;163:120-2. Epub 2016 Jan 14.

Laboratory of Immunogenetics of Diseases, IdiPAZ Institute for Health Research, La Paz University Hospital, Madrid 28046, Spain; Innate Immunity Group, IdiPAZ Institute for Health Research, La Paz University Hospital, Madrid 28046, Spain. Electronic address:

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February 2016

Mendelian Susceptibility to Mycobacterial Disease due to IL-12Rβ1 Deficiency in Three Iranian Children.

Iran J Public Health 2016 Feb;45(2):249-54

Immunology, Asthma and Allergy Research Institute, Tehran University of Medical Sciences, Tehran, Iran.

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February 2016