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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A CIB1 Splice-Site Founder Mutation in Families with Typical Epidermodysplasia Verruciformis.

J Invest Dermatol 2019 May 29;139(5):1195-1198. Epub 2018 Nov 29.

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

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https://linkinghub.elsevier.com/retrieve/pii/S0022202X183289
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http://dx.doi.org/10.1016/j.jid.2018.11.011DOI Listing
May 2019

Double-strand break repair through homologous recombination in autosomal-recessive BCL10 deficiency.

J Allergy Clin Immunol 2019 May 18;143(5):1931-1934.e1. Epub 2019 Jan 18.

Laboratory of Immunogenetics of Human Diseases, IdiPAZ Institute for Health Research, La Paz Hospital, Madrid, Spain; Innate Immunity Group, IdiPAZ Institute for Health Research, La Paz Hospital, Madrid, Spain; CIBER of Respiratory Diseases (CIBERES), Madrid, Spain. Electronic address:

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http://dx.doi.org/10.1016/j.jaci.2018.12.1000DOI Listing
May 2019

SeqTailor: a user-friendly webserver for the extraction of DNA or protein sequences from next-generation sequencing data.

Nucleic Acids Res 2019 May 2. Epub 2019 May 2.

The Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.

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http://dx.doi.org/10.1093/nar/gkz326DOI Listing
May 2019

Homozygosity for P1104A underlies tuberculosis in about 1% of patients in a cohort of European ancestry.

Proc Natl Acad Sci U S A 2019 May 8. Epub 2019 May 8.

Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR 1163, Necker Hospital for Sick Children, 75015 Paris, France.

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http://dx.doi.org/10.1073/pnas.1903561116DOI Listing
May 2019

Recurrent Salmonella typhi Infection and Autoimmunity in a Young Boy with Complete IL-12 Receptor β1 Deficiency.

J Clin Immunol 2019 May 17. Epub 2019 May 17.

Department of Pediatrics, Allergy Immunology Unit, Advanced Pediatrics Centre, Postgraduate Institute of Medical Education and Research, Chandigarh, India.

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http://dx.doi.org/10.1007/s10875-019-00637-0DOI Listing
May 2019

Mendelian susceptibility to mycobacterial disease: 2014-2018 update.

Immunol Cell Biol 2019 Apr 25;97(4):360-367. Epub 2018 Oct 25.

Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM, UMR 1163, Necker Hospital for Sick Children, Paris, France.

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http://doi.wiley.com/10.1111/imcb.12210
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http://dx.doi.org/10.1111/imcb.12210DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6438774PMC
April 2019

[Pathological consequences of excess of interferon in vivo].

Med Sci (Paris) 2019 Mar 1;35(3):232-235. Epub 2019 Apr 1.

CNRS, Paris, France.

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https://www.medecinesciences.org/10.1051/medsci/2019037
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http://dx.doi.org/10.1051/medsci/2019037DOI Listing
March 2019

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

J Allergy Clin Immunol 2019 Feb 1;143(2):507-527. Epub 2018 Aug 1.

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

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http://dx.doi.org/10.1016/j.jaci.2018.07.013DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6358521PMC
February 2019

A 44-Year-Old Female With Overwhelming Sepsis.

Clin Infect Dis 2019 Feb;68(4):712

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

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http://dx.doi.org/10.1093/cid/ciy742DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6355820PMC
February 2019

Human TANK-binding kinase 1 is required for early autophagy induction upon herpes simplex virus 1 infection.

J Allergy Clin Immunol 2019 Feb 5;143(2):765-769.e7. Epub 2018 Oct 5.

Department of Virology, Division of Medicine, Imperial College London, London, United Kingdom; Department of Paediatrics, Division of Medicine, Imperial College London, London, United Kingdom. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00916749183136
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http://dx.doi.org/10.1016/j.jaci.2018.09.013DOI Listing
February 2019

Molecular, Immunological, and Clinical Features of 16 Iranian Patients with Mendelian Susceptibility to Mycobacterial Disease.

J Clin Immunol 2019 Feb 4. Epub 2019 Feb 4.

Immunology, Asthma and Allergy Research Institute, Tehran University of Medical Sciences, 4th Floor, Building no.3, Children's Medical Center, Gharib St, Keshavarz Blvd, 14185-863, Tehran, IR, 14194, Iran.

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http://link.springer.com/10.1007/s10875-019-0593-4
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http://dx.doi.org/10.1007/s10875-019-0593-4DOI Listing
February 2019

A Novel Recessive Mutation of Interferon-γ Receptor 1 in a Patient with Mycobacterium tuberculosis in Bone Marrow Aspirate.

J Clin Immunol 2019 Feb 5;39(2):127-130. Epub 2019 Feb 5.

Research Center for Immunodeficiencies, Children's Medical Center, Tehran University of Medical Sciences, Dr Qarib St, Keshavarz Blvd, Tehran, 14194, Iran.

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http://dx.doi.org/10.1007/s10875-019-00595-7DOI Listing
February 2019

Epidermodysplasia Verruciformis: Genetic Heterogeneity and EVER1 and EVER2 Mutations Revealed by Genome-Wide Analysis.

J Invest Dermatol 2019 Jan 20;139(1):241-244. Epub 2018 Jul 20.

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

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https://linkinghub.elsevier.com/retrieve/pii/S0022202X183236
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http://dx.doi.org/10.1016/j.jid.2018.07.010DOI Listing
January 2019

Tuberculosis and impaired IL-23-dependent IFN-γ immunity in humans homozygous for a common missense variant.

Sci Immunol 2018 Dec;3(30)

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

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http://immunology.sciencemag.org/lookup/doi/10.1126/sciimmun
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http://dx.doi.org/10.1126/sciimmunol.aau8714DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6341984PMC
December 2018

IFN-γ and CD25 drive distinct pathologic features during hemophagocytic lymphohistiocytosis.

J Allergy Clin Immunol 2018 Dec 19. Epub 2018 Dec 19.

VIB Center for Brain & Disease Research, Leuven, Belgium; KU Leuven-University of Leuven, Department of Microbiology and Immunology, Leuven, Belgium. Electronic address:

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http://dx.doi.org/10.1016/j.jaci.2018.10.068DOI Listing
December 2018

Varicella-zoster virus CNS vasculitis and RNA polymerase III gene mutation in identical twins.

Neurol Neuroimmunol Neuroinflamm 2018 Nov 7;5(6):e500. Epub 2018 Sep 7.

Departments of Infectious Diseases (M.E.C-T., A.F.H., M.M., C.S.L., T.H.M), Clinical Immunology (M.C.), and Clinical Medicine (T.H.M), Aarhus University Hospital, Denmark; Université de Bordeaux (S.F.), INSERM U1212, CNRS 5320, France; St.Giles Laboratory of Human Genetics of Infectious Diseases (F.R., S.-Y.Z., J.-L.C.), Rockefeller Branch, the Rockefeller University, New York, NY; Laboratory of Human Genetics of Infectious Diseases (S.-Y.Z., J.-L.C.), Necker Branch, INSERM UMR 1163; Paris Descartes University (S.-Y.Z, J.-L.C.), Imagine Institute, France; and Department of Biomedicine (M.E.C-T., S.R.P., T.H.M.), Aarhus University (AU).

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http://dx.doi.org/10.1212/NXI.0000000000000500DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6131052PMC
November 2018

Arid5a makes the IL-17A/F-responsive pathway less arid.

Sci Signal 2018 Oct 9;11(551). Epub 2018 Oct 9.

Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR 1163, Necker Hospital for Sick Children, 75015 Paris, France.

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https://www.researchgate.net/publication/328183248_Arid5a_ma
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http://stke.sciencemag.org/content/11/551/eaau8876.full.pdf
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http://stke.sciencemag.org/content/11/551/eaau8876.full.pdf
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http://stke.sciencemag.org/lookup/doi/10.1126/scisignal.aau8
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http://dx.doi.org/10.1126/scisignal.aau8876DOI Listing
October 2018

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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http://dx.doi.org/10.1016/j.jaci.2018.04.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6078820PMC
August 2018

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

J Clin Immunol 2018 Aug 23;38(6):712-716. 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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http://dx.doi.org/10.1007/s10875-018-0535-6DOI Listing
August 2018

Human hyper-IgE syndrome: singular or plural?

Mamm Genome 2018 08 9;29(7-8):603-617. 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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http://dx.doi.org/10.1007/s00335-018-9767-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6317873PMC
August 2018

Inherited CARD9 Deficiency: Invasive Disease Caused by Ascomycete Fungi in Previously Healthy Children and Adults.

J Clin Immunol 2018 Aug 22;38(6):656-693. Epub 2018 Aug 22.

Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR 1163, Necker Hospital for Sick Children, 75015, Paris, France.

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http://dx.doi.org/10.1007/s10875-018-0539-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6157734PMC
August 2018

A Brief Historical Perspective on the Pathological Consequences of Excessive Type I Interferon Exposure In vivo.

J Clin Immunol 2018 Aug 5;38(6):694-698. Epub 2018 Sep 5.

C.N.R.S, Paris, France.

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http://dx.doi.org/10.1007/s10875-018-0543-6DOI Listing
August 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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http://dx.doi.org/10.3389/fmicb.2018.01222DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6005841PMC
June 2018

Approach to recurrent Herpes Simplex Encephalitis in children.

Int J Pediatr Adolesc Med 2018 Jun 12;5(2):35-38. Epub 2018 Jun 12.

Department of Pediatrics, Section of Infectious Disease, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.

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http://dx.doi.org/10.1016/j.ijpam.2018.05.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6363264PMC
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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http://link.springer.com/10.1007/s10875-018-0509-8
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http://dx.doi.org/10.1007/s10875-018-0509-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6478027PMC
May 2018

Editorial.

J Clin Immunol 2018 May;38(4):445-446

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

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http://dx.doi.org/10.1007/s10875-018-0520-0DOI Listing
May 2018

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

Semin Immunol 2018 04 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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http://dx.doi.org/10.1016/j.smim.2017.12.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5910248PMC
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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http://dx.doi.org/10.1038/nri.2018.28DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6023408PMC
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 03 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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http://dx.doi.org/10.1016/j.jid.2017.09.035DOI Listing
March 2018

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

Cell 2018 02;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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http://dx.doi.org/10.1016/j.cell.2018.02.019DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5886375PMC
February 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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http://dx.doi.org/10.1016/j.mib.2017.10.016DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5733726PMC
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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http://dx.doi.org/10.1542/peds.2016-1668DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5654388PMC
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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http://dx.doi.org/10.1016/j.coi.2017.09.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5682227PMC
October 2017

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

Pediatr Infect Dis J 2017 08;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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http://dx.doi.org/10.1097/INF.0000000000001631DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5511073PMC
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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http://dx.doi.org/10.1016/j.ejmg.2017.05.005DOI Listing
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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http://dx.doi.org/10.4049/jimmunol.1700751DOI Listing
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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http://dx.doi.org/10.1007/s10875-017-0400-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5563390PMC
July 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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http://dx.doi.org/10.1177/1093526616686255DOI Listing
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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http://dx.doi.org/10.1556/030.64.2017.014DOI Listing
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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https://linkinghub.elsevier.com/retrieve/pii/S07351097173048
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http://dx.doi.org/10.1016/j.jacc.2017.01.043DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5551973PMC
April 2017

Human Adaptive Immunity Rescues an Inborn Error of Innate Immunity.

Cell 2017 02;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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http://dx.doi.org/10.1016/j.cell.2017.01.039DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5328639PMC
February 2017

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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http://dx.doi.org/10.1038/cti.2016.71DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5192062PMC
December 2016