Publications by authors named "Stephanie Boisson-Dupuis"

100Publications

Multibatch Cytometry Data Integration for Optimal Immunophenotyping.

J Immunol 2020 Nov 23. Epub 2020 Nov 23.

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

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http://dx.doi.org/10.4049/jimmunol.2000854DOI Listing
November 2020

Autoantibodies against type I IFNs in patients with life-threatening COVID-19.

Authors:
Paul Bastard Lindsey B Rosen Qian Zhang Eleftherios Michailidis Hans-Heinrich Hoffmann Yu Zhang Karim Dorgham Quentin Philippot Jérémie Rosain Vivien Béziat Jérémy Manry Elana Shaw Liis Haljasmägi Pärt Peterson Lazaro Lorenzo Lucy Bizien Sophie Trouillet-Assant Kerry Dobbs Adriana Almeida de Jesus Alexandre Belot Anne Kallaste Emilie Catherinot Yacine Tandjaoui-Lambiotte Jeremie Le Pen Gaspard Kerner Benedetta Bigio Yoann Seeleuthner Rui Yang Alexandre Bolze András N Spaan Ottavia M Delmonte Michael S Abers Alessandro Aiuti Giorgio Casari Vito Lampasona Lorenzo Piemonti Fabio Ciceri Kaya Bilguvar Richard P Lifton Marc Vasse David M Smadja Mélanie Migaud Jérome Hadjadj Benjamin Terrier Darragh Duffy Lluis Quintana-Murci Diederik van de Beek Lucie Roussel Donald C Vinh Stuart G Tangye Filomeen Haerynck David Dalmau Javier Martinez-Picado Petter Brodin Michel C Nussenzweig Stéphanie Boisson-Dupuis Carlos Rodríguez-Gallego Guillaume Vogt Trine H Mogensen Andrew J Oler Jingwen Gu Peter D Burbelo Jeffrey I Cohen Andrea Biondi Laura Rachele Bettini Mariella D'Angio Paolo Bonfanti Patrick Rossignol Julien Mayaux Frédéric Rieux-Laucat Eystein S Husebye Francesca Fusco Matilde Valeria Ursini Luisa Imberti Alessandra Sottini Simone Paghera Eugenia Quiros-Roldan Camillo Rossi Riccardo Castagnoli Daniela Montagna Amelia Licari Gian Luigi Marseglia Xavier Duval Jade Ghosn John S Tsang Raphaela Goldbach-Mansky Kai Kisand Michail S Lionakis Anne Puel Shen-Ying Zhang Steven M Holland Guy Gorochov Emmanuelle Jouanguy Charles M Rice Aurélie Cobat Luigi D Notarangelo Laurent Abel Helen C Su Jean-Laurent Casanova

Science 2020 10 24;370(6515). Epub 2020 Sep 24.

Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.

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http://dx.doi.org/10.1126/science.abd4585DOI Listing
October 2020

Inborn errors of type I IFN immunity in patients with life-threatening COVID-19.

Authors:
Qian Zhang Paul Bastard Zhiyong Liu Jérémie Le Pen Marcela Moncada-Velez Jie Chen Masato Ogishi Ira K D Sabli Stephanie Hodeib Cecilia Korol Jérémie Rosain Kaya Bilguvar Junqiang Ye Alexandre Bolze Benedetta Bigio Rui Yang Andrés Augusto Arias Qinhua Zhou Yu Zhang Fanny Onodi Sarantis Korniotis Léa Karpf Quentin Philippot Marwa Chbihi Lucie Bonnet-Madin Karim Dorgham Nikaïa Smith William M Schneider Brandon S Razooky Hans-Heinrich Hoffmann Eleftherios Michailidis Leen Moens Ji Eun Han Lazaro Lorenzo Lucy Bizien Philip Meade Anna-Lena Neehus Aileen Camille Ugurbil Aurélien Corneau Gaspard Kerner Peng Zhang Franck Rapaport Yoann Seeleuthner Jeremy Manry Cecile Masson Yohann Schmitt Agatha Schlüter Tom Le Voyer Taushif Khan Juan Li Jacques Fellay Lucie Roussel Mohammad Shahrooei Mohammed F Alosaimi Davood Mansouri Haya Al-Saud Fahd Al-Mulla Feras Almourfi Saleh Zaid Al-Muhsen Fahad Alsohime Saeed Al Turki Rana Hasanato Diederik van de Beek Andrea Biondi Laura Rachele Bettini Mariella D'Angio' Paolo Bonfanti Luisa Imberti Alessandra Sottini Simone Paghera Eugenia Quiros-Roldan Camillo Rossi Andrew J Oler Miranda F Tompkins Camille Alba Isabelle Vandernoot Jean-Christophe Goffard Guillaume Smits Isabelle Migeotte Filomeen Haerynck Pere Soler-Palacin Andrea Martin-Nalda Roger Colobran Pierre-Emmanuel Morange Sevgi Keles Fatma Çölkesen Tayfun Ozcelik Kadriye Kart Yasar Sevtap Senoglu Şemsi Nur Karabela Carlos Rodríguez-Gallego Giuseppe Novelli Sami Hraiech Yacine Tandjaoui-Lambiotte Xavier Duval Cédric Laouénan Andrew L Snow Clifton L Dalgard Joshua D Milner Donald C Vinh Trine H Mogensen Nico Marr András N Spaan Bertrand Boisson Stéphanie Boisson-Dupuis Jacinta Bustamante Anne Puel Michael J Ciancanelli Isabelle Meyts Tom Maniatis Vassili Soumelis Ali Amara Michel Nussenzweig Adolfo García-Sastre Florian Krammer Aurora Pujol Darragh Duffy Richard P Lifton Shen-Ying Zhang Guy Gorochov Vivien Béziat Emmanuelle Jouanguy Vanessa Sancho-Shimizu Charles M Rice Laurent Abel Luigi D Notarangelo Aurélie Cobat Helen C Su Jean-Laurent Casanova

Science 2020 10 24;370(6515). Epub 2020 Sep 24.

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

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http://dx.doi.org/10.1126/science.abd4570DOI Listing
October 2020

Human STAT1 Gain-of-Function Heterozygous Mutations: Chronic Mucocutaneous Candidiasis and Type I Interferonopathy.

J Clin Immunol 2020 Nov 27;40(8):1065-1081. Epub 2020 Aug 27.

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/s10875-020-00847-xDOI Listing
November 2020

The monogenic basis of human tuberculosis.

Hum Genet 2020 Jun 13;139(6-7):1001-1009. Epub 2020 Feb 13.

Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR1163, Paris, France.

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http://dx.doi.org/10.1007/s00439-020-02126-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7275886PMC
June 2020

Genetic, Immunological, and Clinical Features of the First Mexican Cohort of Patients with Chronic Granulomatous Disease.

J Clin Immunol 2020 04 10;40(3):475-493. Epub 2020 Feb 10.

Imagine Institute, Paris University, Paris, France.

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http://dx.doi.org/10.1007/s10875-020-00750-5DOI Listing
April 2020

Fatal Cytomegalovirus Infection in an Adult with Inherited NOS2 Deficiency.

N Engl J Med 2020 01;382(5):437-445

From St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University (S.B.D., D.H., N.H., S.B., F.R., B.B., R.F., E.J., J.B., L.A., S.B.-D., J.-L.C.), the Department of Microbiology and Immunology, Weill Cornell Medicine (R.B., C.N.), and Howard Hughes Medical Institute (J.-L.C.) - all in New York; the Pediatric Respiratory Diseases Research Center (D.M., S.A.M.), the Department of Clinical Immunology and Infectious Diseases (D.M., N. Mansouri), and the Clinical Tuberculosis and Epidemiology Research Center (D.M., M.M.), National Research Institute of Tuberculosis and Lung Diseases, Shahid Beheshti University of Medical Sciences, Tehran, Iran; the Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM Unité 1163 (A.-L.N., L.L.-D., E.J., J.B., L.A., S.B.-D., V.B., J.-L.C.), Paris University, Imagine Institute (A.-L.N., L.L.-D., E.J., J.B., L.A., S.B.-D., V.B., J.-L.C.), and the Study Center for Primary Immunodeficiencies, Assistance Publique-Hôpitaux de Paris (AP-HP) (J.B.), and the Pediatric Immunology-Hematology Unit (J.-L.C.), Necker Hospital for Sick Children, Paris, and the Department of Pathology, Ambroise Paré Hospital, AP-HP, Boulogne-Billancourt (J.-F.E.) - all in France; the Institute of Experimental Hematology, Hannover Medical School, Hannover, Germany (A.-L.N.); the Research Branch, Sidra Medicine (M.R., T.K., F.A.A., N. Marr), and the College of Health and Life Sciences, Hamad Bin Khalifa University (N. Marr), Doha, Qatar; and the Division of Pulmonary Medicine, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland (N. Mansouri).

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http://dx.doi.org/10.1056/NEJMoa1910640DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7063989PMC
January 2020

A New Patient with Inherited TYK2 Deficiency.

J Clin Immunol 2020 01 11;40(1):232-235. Epub 2019 Nov 11.

Immunology, Asthma and Allergy Research Institute (IAARI), Tehran University of Medical Sciences, 4th Floor, Building No.3, Children's Medical Center, Gharib St, Keshavarz Blvd, Tehran, 1419733154, Iran.

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http://dx.doi.org/10.1007/s10875-019-00713-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7218688PMC
January 2020

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

Proc Natl Acad Sci U S A 2019 05 8;116(21):10430-10434. 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
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6534977PMC
May 2019

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

Sci Immunol 2018 12;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

Mendelian susceptibility to mycobacterial disease: 2014-2018 update.

Immunol Cell Biol 2019 04 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

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

J Clin Immunol 2018 05 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

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

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

J Allergy Clin Immunol 2017 06 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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http://dx.doi.org/10.1016/j.jaci.2016.10.033DOI Listing
June 2017

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

Pediatr Blood Cancer 2017 06 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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http://dx.doi.org/10.1002/pbc.26362DOI Listing
June 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 01 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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http://dx.doi.org/10.1007/s10875-016-0351-9DOI Listing
January 2017

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

Curr Protoc Immunol 2016 11 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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http://dx.doi.org/10.1002/cpim.15DOI Listing
November 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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http://dx.doi.org/10.1016/j.jaci.2015.11.041DOI Listing
July 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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http://dx.doi.org/10.1007/s10875-016-0238-9DOI Listing
April 2016

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

J Clin Immunol 2016 Jan 21;36(1):12-5. Epub 2015 Dec 21.

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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http://dx.doi.org/10.1007/s10875-015-0223-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4720548PMC
January 2016

Major Loci on Chromosomes 8q and 3q Control Interferon γ Production Triggered by Bacillus Calmette-Guerin and 6-kDa Early Secretory Antigen Target, Respectively, in Various Populations.

J Infect Dis 2016 Apr 21;213(7):1173-9. Epub 2015 Dec 21.

Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163 Paris Descartes University, Sorbonne Paris Cité, Imagine Institute St Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University.

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http://dx.doi.org/10.1093/infdis/jiv757DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4779307PMC
April 2016

The human gene damage index as a gene-level approach to prioritizing exome variants.

Proc Natl Acad Sci U S A 2015 Nov 19;112(44):13615-20. Epub 2015 Oct 19.

St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U.1163, Necker Hospital for Sick Children, 75015 Paris, France; Paris Descartes University, Imagine Institute, 75015 Paris, France; Howard Hughes Medical Institute, New York, NY 10065; Pediatric Hematology-Immunology Unit, Necker Hospital for Sick Children, 75015 Paris, France

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http://dx.doi.org/10.1073/pnas.1518646112DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4640721PMC
November 2015

Human TYK2 deficiency: Mycobacterial and viral infections without hyper-IgE syndrome.

J Exp Med 2015 Sep 24;212(10):1641-62. Epub 2015 Aug 24.

St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065 Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Enfants Malades Hospital, 75015 Paris, France University Paris Descartes, Imagine Institute, 75006 Paris, France

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http://dx.doi.org/10.1084/jem.20140280DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4577846PMC
September 2015

Recurrent Salmonellosis in a Child with Complete IL-12Rβ1 Deficiency.

J immunodefic Disord 2014 Jun;3

Center for the Study of Primary Immunodeficiencies, Assistance Publique-Hôpitaux de Paris, Necker Enfants Malades Hospital, Paris, 75015, France, EU.

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http://dx.doi.org/10.4172/2324-853X.1000109DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4276046PMC
June 2014

Mendelian susceptibility to mycobacterial disease: genetic, immunological, and clinical features of inborn errors of IFN-γ immunity.

Semin Immunol 2014 Dec 26;26(6):454-70. Epub 2014 Oct 26.

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

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http://dx.doi.org/10.1016/j.smim.2014.09.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4357480PMC
December 2014

HGCS: an online tool for prioritizing disease-causing gene variants by biological distance.

BMC Genomics 2014 Apr 3;15:256. Epub 2014 Apr 3.

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

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http://dx.doi.org/10.1186/1471-2164-15-256DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4051124PMC
April 2014

ISG15: leading a double life as a secreted molecule.

Exp Mol Med 2013 Apr 12;45:e18. Epub 2013 Apr 12.

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

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http://dx.doi.org/10.1038/emm.2013.36DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3641400PMC
April 2013

Mendelian susceptibility to mycobacterial disease in egyptian children.

Mediterr J Hematol Infect Dis 2012 7;4(1):e2012033. Epub 2012 May 7.

Primary Immunodeficiency Clinic, Department of Pediatrics, Cairo University, Egypt.

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http://dx.doi.org/10.4084/MJHID.2012.033DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3375717PMC
October 2012

Inborn errors of human STAT1: allelic heterogeneity governs the diversity of immunological and infectious phenotypes.

Curr Opin Immunol 2012 Aug 30;24(4):364-78. Epub 2012 May 30.

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

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http://dx.doi.org/10.1016/j.coi.2012.04.011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3477860PMC
August 2012

Multifocal Tuberculous osteomyelitis: possible inherited interferon gamma axis defect.

Indian J Pediatr 2013 Jun 29;80(6):505-8. Epub 2012 Feb 29.

Department of Pediatric Genetics, Amrita Institute of Medical Sciences & Research Centre, Aims Ponekkara PO, Cochin 682041, Kerala, India.

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http://dx.doi.org/10.1007/s12098-012-0720-1DOI Listing
June 2013

Genetic lessons learned from X-linked Mendelian susceptibility to mycobacterial diseases.

Ann N Y Acad Sci 2011 Dec;1246:92-101

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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http://doi.wiley.com/10.1111/j.1749-6632.2011.06273.x
Publisher Site
http://dx.doi.org/10.1111/j.1749-6632.2011.06273.xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3315101PMC
December 2011

Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis.

J Exp Med 2011 Aug 4;208(8):1635-48. Epub 2011 Jul 4.

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.

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http://dx.doi.org/10.1084/jem.20110958DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3149226PMC
August 2011

Lethal tuberculosis in a previously healthy adult with IL-12 receptor deficiency.

J Clin Immunol 2011 Aug 13;31(4):537-9. Epub 2011 Apr 13.

Mycobacteriology Research Center, Division of Infectious Disease and Clinical Immunology, National Research Institute of Tuberculosis and Lung Diseases, Masih Daneshvari Hospital, Shahid Beheshti University of Medical Sciences, Darabad, Niavaran, Tehran, Iran.

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http://dx.doi.org/10.1007/s10875-011-9523-9DOI Listing
August 2011

Revisiting human IL-12Rβ1 deficiency: a survey of 141 patients from 30 countries.

Authors:
Ludovic de Beaucoudrey Arina Samarina Jacinta Bustamante Aurélie Cobat Stéphanie Boisson-Dupuis Jacqueline Feinberg Saleh Al-Muhsen Lucile Jannière Yoann Rose Maylis de Suremain Xiao-Fei Kong Orchidée Filipe-Santos Ariane Chapgier Capucine Picard Alain Fischer Figen Dogu Aydan Ikinciogullari Gonul Tanir Sami Al-Hajjar Suliman Al-Jumaah Husn H Frayha Zobaida AlSum Sulaiman Al-Ajaji Abdullah Alangari Abdulaziz Al-Ghonaium Parisa Adimi Davood Mansouri Imen Ben-Mustapha Judith Yancoski Ben-Zion Garty Carlos Rodriguez-Gallego Isabel Caragol Necil Kutukculer Dinakantha S Kumararatne Smita Patel Rainer Doffinger Andrew Exley Olle Jeppsson Janine Reichenbach David Nadal Yaryna Boyko Barbara Pietrucha Suzanne Anderson Michael Levin Liliane Schandené Kinda Schepers André Efira Françoise Mascart Masao Matsuoka Tatsunori Sakai Claire-Anne Siegrist Klara Frecerova Renate Blüetters-Sawatzki Jutta Bernhöft Joachim Freihorst Ulrich Baumann Darko Richter Filomeen Haerynck Frans De Baets Vas Novelli David Lammas Christiane Vermylen David Tuerlinckx Chris Nieuwhof Malgorzata Pac Walther H Haas Ingrid Müller-Fleckenstein Bernhard Fleckenstein Jacob Levy Revathi Raj Aileen Cleary Cohen David B Lewis Steven M Holland Kuender D Yang Xiaochuan Wang Xiaohong Wang Liping Jiang Xiqiang Yang Chaomin Zhu Yuanyuan Xie Pamela Pui Wah Lee Koon Wing Chan Tong-Xin Chen Gabriela Castro Ivelisse Natera Ana Codoceo Alejandra King Liliana Bezrodnik Daniela Di Giovani Maria Isabel Gaillard Dewton de Moraes-Vasconcelos Anete Sevciovic Grumach Alberto Jose da Silva Duarte Ruth Aldana Francisco Javier Espinosa-Rosales Mohammed Bejaoui Ahmed Aziz Bousfiha Jamila El Baghdadi Namik Ozbek Guzide Aksu Melike Keser Ayper Somer Nevin Hatipoglu Cigdem Aydogmus Suna Asilsoy Yildiz Camcioglu Saniye Gülle Tuba T Ozgur Meteran Ozen Matias Oleastro Andrea Bernasconi Setareh Mamishi Nima Parvaneh Sergio Rosenzweig Ridha Barbouche Sigifredo Pedraza Yu Lung Lau Mohammad S Ehlayel Claire Fieschi Laurent Abel Ozden Sanal Jean-Laurent Casanova

Medicine (Baltimore) 2010 Nov;89(6):381-402

Laboratory of Human Genetics of Infectious Diseases U980, Institut National de la Santé et de la Recherche Médicale, Paris, France.

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http://dx.doi.org/10.1097/MD.0b013e3181fdd832DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3129625PMC
November 2010

The clinical spectrum of patients with deficiency of Signal Transducer and Activator of Transcription-1.

Pediatr Infect Dis J 2011 Apr;30(4):352-5

Department of Pediatrics, Hadassah-Hebrew University Medical Center, Ein-Kerem, Jerusalem, Israel.

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http://dx.doi.org/10.1097/INF.0b013e3181fdff4aDOI Listing
April 2011

Primary immunodeficiencies of protective immunity to primary infections.

Clin Immunol 2010 May 16;135(2):204-9. Epub 2010 Mar 16.

Clinical Immunology Unit, Department of Pediatrics, CHU Ibn Rochd, Casablanca, Morocco.

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http://dx.doi.org/10.1016/j.clim.2010.02.001DOI Listing
May 2010