Nizar Mahlaoui

Nizar Mahlaoui

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Nizar Mahlaoui

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A 1-Year Prospective French Nationwide Study of Emergency Hospital Admissions in Children and Adults with Primary Immunodeficiency.

Authors:
Hélène Coignard-Biehler Nizar Mahlaoui Benoit Pilmis Vincent Barlogis Pauline Brosselin Nathalie De Vergnes Marianne Debré Marion Malphettes Pierre Frange Emilie Catherinot Isabelle Pellier Isabelle Durieu Antoinette Perlat Bruno Royer Alain Le Quellec Eric Jeziorski Alain Fischer Olivier Lortholary Laurent Aaron Daniel Adoue Claire Aguilar Nathalie Aladjidi Alexandre Alcais Zahir Amoura Philippe Arlet Corinne Armari-Alla Brigitte Bader-Meunier Sophie Bayart Yves Bertrand Boris Bienvenu Stéphane Blanche Damien Bodet Bernard Bonnotte Raphaël Borie Patrick Boutard Claire Briandet Jean-Paul Brion Jacques Brouard Sarah Cohen-Beaussant Laurence Costes Louis-Jean Couderc Pierre Cougoul Virginie Courteille Geneviève de Saint Basile Catherine Devoldere Anne Deville Jean Donadieu Eric Dore Fabienne Dulieu Christine Edan Natacha Entz-Werle Claire Fieschi Amandine Forestier Fanny Fouyssac Vincent Gajdos Lionel Galicier Virginie Gandemer Martine Gardembas Catherine Gaud Gaelle Guillerm Eric Hachulla Mohamed Hamidou Olivier Hermine Cyrille Hoarau Sébastien Humbert Arnaud Jaccard Serge Jacquot Jean-Philippe Jais Roland Jaussaud Pierre-Yves Jeandel Kamila Kebaili Anne-Sophie Korganow Olivier Lambotte Fanny Lanternier Claire Larroche Anne-Sophie Lascaux Emmanuelle Le Moigne Vincent Le Moing Yvon Lebranchu Marc Lecuit Guillaume Lefevre Richard Lemal Valérie Li Thiao Te Aude Marie-Cardine Nicolas Martin Silva Agathe Masseau Christian Massot Françoise Mazingue Etienne Merlin Gérard Michel Frédéric Millot Béatrice Monlibert Fabrice Monpoux Despina Moshous Luc Mouthon Martine Munzer Bénédicte Neven Raphaëlle Nove-Josserand Eric Oksenhendler Marie Ouachée-Chardin Caroline Oudot Anne Pagnier Jean-Louis Pasquali Marlène Pasquet Yves Perel Capucine Picard Christophe Piguet Dominique Plantaz Johan Provot Pierre Quartier Frédéric Rieux-Laucat Pascal Roblot Pierre-Marie Roger Pierre-Simon Rohrlich Hervé Rubie Valéry Salle Françoise Sarrot-Reynauld Amélie Servettaz Jean-Louis Stephan Nicolas Schleinitz Felipe Suarez Laure Swiader Sophie Taque Caroline Thomas Olivier Tournilhac Caroline Thumerelle François Tron Jean-Pierre Vannier Jean-François Viallard

J Clin Immunol 2019 Oct 10;39(7):702-712. Epub 2019 Aug 10.

Service de Maladies Infectieuses et Tropicales, Centre d'Infectiologie Necker Pasteur, Hôpital Universitaire Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, Université de Paris, Paris, France.

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http://dx.doi.org/10.1007/s10875-019-00658-9DOI Listing
October 2019

The NEW ESID Online Database Network.

Bioinformatics 2019 Jul 2. Epub 2019 Jul 2.

Institute for Immunodeficiency, Center for Chronic Immunodeficiency (CCI), Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg.

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http://dx.doi.org/10.1093/bioinformatics/btz525DOI Listing
July 2019

Hematopoietic stem cell transplantation for CD40 ligand deficiency: Results from an EBMT/ESID-IEWP-SCETIDE-PIDTC study.

J Allergy Clin Immunol 2019 Jun 17;143(6):2238-2253. Epub 2019 Jan 17.

Department of Pediatric Immunology and HSCT, Great North Children's Hospital, Newcastle upon Tyne, United Kingdom; Institute of Cellular Medicine, Newcastle University, Newcastle upon Tyne, United Kingdom.

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https://linkinghub.elsevier.com/retrieve/pii/S00916749193003
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http://dx.doi.org/10.1016/j.jaci.2018.12.1010DOI Listing
June 2019

Lymphoproliferative disease in patients with Wiskott-Aldrich syndrome: Analysis of the French Registry of Primary Immunodeficiencies.

J Allergy Clin Immunol 2019 Jun 20;143(6):2311-2315.e7. Epub 2019 Feb 20.

Clinical Hematology, Necker University Hospital, AP-HP, Paris, France; Paris Descartes University, Sorbonne Paris Cité University, Imagine Institute, Paris, France; INSERM UMR1163 & CNRS URL 8254, Laboratory of cellular and molecular mechanisms of hematological disorders and therapeutical implications, Paris, France; French National Reference Center for Primary Immune Deficiencies (CEREDIH), Necker University Hospital, AP-HP, Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.jaci.2019.01.046DOI Listing
June 2019

Disease Evolution and Response to Rapamycin in Activated Phosphoinositide 3-Kinase δ Syndrome: The European Society for Immunodeficiencies-Activated Phosphoinositide 3-Kinase δ Syndrome Registry.

Front Immunol 2018 16;9:543. Epub 2018 Mar 16.

Center for Chronic Immunodeficiency, Medical Center - University of Freiburg, Freiburg, Germany.

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http://journal.frontiersin.org/article/10.3389/fimmu.2018.00
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http://dx.doi.org/10.3389/fimmu.2018.00543DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5863269PMC
May 2019

Genetic diagnosis of primary immunodeficiencies: A survey of the French national registry.

J Allergy Clin Immunol 2019 Apr 9;143(4):1646-1649.e10. Epub 2019 Jan 9.

French National Reference Center for Primary Immune Deficiencies (CEREDIH), Necker Enfants Malades University Hospital, Assistance Publique-Hôpitaux de Paris, Paris, France; Pediatric Immuno-Haematology and Rheumatology Unit, Necker Enfants Malades University Hospital, Assistance Publique-Hôpitaux de Paris, Paris, France; Paris Descartes University, Sorbonne Paris Cité, Imagine Institute, INSERM UMR 1163, Paris, France; Collège de France, Paris, France. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00916749193000
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http://dx.doi.org/10.1016/j.jaci.2018.12.994DOI Listing
April 2019

Spectrum of Pulmonary Aspergillosis in Hyper-IgE Syndrome with Autosomal-Dominant STAT3 Deficiency.

J Allergy Clin Immunol Pract 2019 Jul - Aug;7(6):1986-1995.e3. Epub 2019 Mar 13.

Service de Maladies Infectieuses et Tropicales, Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris (APHP), Université Paris Descartes, Paris, France; Institut Pasteur, CNRS, Centre National de Référence Mycoses Invasives et Antifongiques, Unité de Mycologie Moléculaire, Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.jaip.2019.02.041DOI Listing
March 2019

Intestinal dysbiosis in inflammatory bowel disease associated with primary immunodeficiency.

J Allergy Clin Immunol 2019 Feb 10;143(2):775-778.e6. Epub 2018 Oct 10.

French National Reference Center for Primary Immune Deficiency (CEREDIH), Necker-Enfants Malades University Hospital, APHP, Paris, France; Paediatric Haematology-Immunology and Rheumatology Department, Hôpital Necker-Enfants Malades, APHP, Paris, France; INSERM UMR 1163, Imagine Institute, Paris, France; Paris Descartes University, Sorbonne Paris Cité, Imagine Institute, Paris, France; Collège de France, Paris, France. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00916749183142
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http://dx.doi.org/10.1016/j.jaci.2018.09.021DOI Listing
February 2019

The European Society for Immunodeficiencies (ESID) Registry Working Definitions for the Clinical Diagnosis of Inborn Errors of Immunity.

J Allergy Clin Immunol Pract 2019 Jul - Aug;7(6):1763-1770. Epub 2019 Feb 15.

Institute for Immunodeficiency, Center for Chronic Immunodeficiency (CCI), Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany; Center for Pediatrics and Adolescent Medicine, Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.jaip.2019.02.004DOI Listing
February 2019

Progressive Multifocal Leukoencephalopathy in Primary Immunodeficiencies.

J Clin Immunol 2019 Jan 14;39(1):55-64. Epub 2018 Dec 14.

Department of Haematology, Assistance Publique-Hôpitaux de Paris, Hôpital Necker-Enfants Malades, France et Université Paris Descartes, 149 rue de Sèvres, 75015, Paris, France.

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http://dx.doi.org/10.1007/s10875-018-0578-8DOI Listing
January 2019

Excess mortality and hospitalizations in transitional-age youths with a long-term disease: A national population-based cohort study.

PLoS One 2018 13;13(3):e0193729. Epub 2018 Mar 13.

Center for Research in Epidemiology and Population Health UMR 1018, INSERM, Paris-Sud University, Versailles Saint-Quentin-en-Yvelines University, Villejuif, France.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0193729PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5849314PMC
June 2018

Next generation phenotyping using narrative reports in a rare disease clinical data warehouse.

Orphanet J Rare Dis 2018 05 31;13(1):85. Epub 2018 May 31.

Institut National de la Santé et de la Recherche Médicale (INSERM), Centre de Recherche des Cordeliers, UMR 1138 Equipe 22, Paris Descartes, Sorbonne Paris Cité University, Paris, France.

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http://dx.doi.org/10.1186/s13023-018-0830-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5984368PMC
May 2018

Burden of Poor Health Conditions and Quality of Life in 656 Children with Primary Immunodeficiency.

J Pediatr 2018 03 6;194:211-217.e5. Epub 2017 Dec 6.

French National Reference Center for Primary Immune Deficiency (CEREDIH), Necker Enfants Malades University Hospital, Assistance Publique-Hôpitaux de Paris, Paris, France; Pediatric Immuno-Haematology and Rheumatology Unit, Necker Enfants Malades University Hospital, Assistance Publique-Hôpitaux de Paris, Paris, France; INSERM UMR1163, Imagine Institute, Sorbonne Paris Cité, University Paris Descartes, Paris, France; Division of Médecine Expérimentale, Collège de France, Paris, France.

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http://dx.doi.org/10.1016/j.jpeds.2017.10.029DOI Listing
March 2018

Pediatric-onset Evans syndrome: Heterogeneous presentation and high frequency of monogenic disorders including LRBA and CTLA4 mutations.

Clin Immunol 2018 03 10;188:52-57. Epub 2018 Jan 10.

INSERM UMR 1163, Laboratory of Immunogenetics of pediatric autoimmune diseases, Paris, France; Paris Descartes-Sorbonne Paris Cité University, Imagine Institute, Paris, France; Pediatric immuno-hematology and rhumatology unit, RAISE reference centre for pediatric inflammatory rheumatic diseases and systemic autoimmune diseases, Necker-Enfants Malades University Hospital, Assistance publique - Hôpitaux de Paris, France.

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http://dx.doi.org/10.1016/j.clim.2017.12.009DOI Listing
March 2018

Les enjeux de la transition de la pédiatrie vers la médecine d’adultes.

Soins Pediatr Pueric 2017 Jul - Aug;38(297):12-15

La Suite, Hôpital universitaire Necker-Enfants malades, AP-HP, 149 rue de Sèvres, 75015 Paris, France.

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http://dx.doi.org/10.1016/j.spp.2017.05.002DOI Listing
December 2017

Prevalence of primary immunodeficiencies in France is underestimated.

J Allergy Clin Immunol 2017 12 18;140(6):1731-1733. Epub 2017 Jul 18.

French National Reference Center for Primary Immune Deficiencies (CEREDIH), Necker-Enfants Malades University Hospital, Assistance Publique-Hôpitaux de Paris, Paris, France; Pediatric Immuno-Haematology and Rheumatology Unit, Necker-Enfants Malades University Hospital, Assistance Publique-Hôpitaux de Paris, Paris, France; Paris Descartes University, Sorbonne Paris Cité, Imagine Institute, Paris, France; INSERM UMR 1163, Paris, France; Collège de France, Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.jaci.2017.06.020DOI Listing
December 2017

Autoimmune and inflammatory manifestations occur frequently in patients with primary immunodeficiencies.

J Allergy Clin Immunol 2017 Nov 10;140(5):1388-1393.e8. Epub 2017 Feb 10.

Centre de Référence Déficits Immunitaires Héréditaires (CEREDIH), Hôpital Universitaire Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France; Unité d'Immuno-Hématologie et Rhumatologie pédiatrique, Hôpital Universitaire Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France; Paris Descartes-Sorbonne Paris Cité University, Imagine Institute, Paris, France; Laboratory of Human Genetics of Infectious Diseases, INSERM UMR 1163, Paris, France.

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http://dx.doi.org/10.1016/j.jaci.2016.12.978DOI Listing
November 2017

Advances in the Care of Primary Immunodeficiencies (PIDs): from Birth to Adulthood.

J Clin Immunol 2017 Jul 18;37(5):452-460. Epub 2017 May 18.

Great North Children's Hospital, & Institute for Cellular Medicine University of Newcastle, Newcastle upon Tyne, NE4 1LP, UK.

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http://dx.doi.org/10.1007/s10875-017-0401-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5489581PMC
July 2017

Physical health conditions and quality of life in adults with primary immunodeficiency diagnosed during childhood: A French Reference Center for PIDs (CEREDIH) study.

J Allergy Clin Immunol 2017 Apr 30;139(4):1275-1281.e7. Epub 2016 Sep 30.

French National Reference Center for Primary Immune Deficiency (CEREDIH), Necker Enfants Malades University Hospital, Assistance Publique-Hôpitaux de Paris, Paris, France; Pediatric Immuno-Haematology and Rheumatology Unit, Necker Enfants Malades University Hospital, Assistance Publique-Hôpitaux de Paris, Paris, France; INSERM UMR1163, Imagine Institute, Necker Medical School, Sorbonne Paris Cité, University Paris Descartes, Paris, France; Collège de France, Paris, France.

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http://dx.doi.org/10.1016/j.jaci.2016.08.027DOI Listing
April 2017

X-linked primary immunodeficiency associated with hemizygous mutations in the moesin (MSN) gene.

J Allergy Clin Immunol 2016 12 4;138(6):1681-1689.e8. Epub 2016 Jun 4.

Laboratory of Human Lymphohematopoiesis, INSERM UMR 1163, Paris, France; Paris Descartes-Sorbonne Paris Cité University, Imagine Institute, Paris, France; Biotherapy Clinical Investigation Center, Necker Children's Hospital, Assistance Publique-Hôpitaux de Paris, Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.jaci.2016.04.032DOI Listing
December 2016

Managing Inflammatory Manifestations in Patients with Chronic Granulomatous Disease.

Paediatr Drugs 2016 Oct;18(5):335-45

Paris Descartes University, Sorbonne Paris Cité, Imagine Institute, Paris, France.

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http://dx.doi.org/10.1007/s40272-016-0182-4DOI Listing
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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http://dx.doi.org/10.1016/j.jaci.2015.11.041DOI Listing
July 2016

Evaluating Continuity During Transfer to Adult Care: A Systematic Review.

Pediatrics 2016 07;138(1)

Paris Descartes University, Sorbonne Paris Cité, Paris, France; Department of Informatics and Public Health, Georges Pompidou European Hospital, Paris, France; and INSERM Cordeliers Research Center UMRS 872, Paris Descartes University, Paris, France.

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http://dx.doi.org/10.1542/peds.2016-0256DOI Listing
July 2016

Genetic, Cellular and Clinical Features of ICF Syndrome: a French National Survey.

J Clin Immunol 2016 Feb 6;36(2):149-59. Epub 2016 Feb 6.

Study Center for Primary Immunodeficiencies, Necker-Enfants Malades Hospital, Assistance Publique Hôpitaux de Paris (APHP), University Paris Descartes, 149 rue de Sevres, 75015, Paris, France.

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http://dx.doi.org/10.1007/s10875-016-0240-2DOI Listing
February 2016

Early-onset hypogammaglobulinemia: A survey of 44 patients.

J Allergy Clin Immunol 2015 Oct 8;136(4):1097-9.e2. Epub 2015 May 8.

INSERM UMR 1163, Paris, France; Paris Descartes University - Sorbonne Paris Cité, Imagine Institute, Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.jaci.2015.03.038DOI Listing
October 2015

Pulmonary manifestations in adult patients with chronic granulomatous disease.

Eur Respir J 2015 Jun 22;45(6):1613-23. Epub 2015 Jan 22.

Service de Pneumologie, Hôpital Foch, Suresnes, France UPRES EA 220, Suresnes, France Faculté des Sciences de la Santé Simone Veil, Université Versailles-Saint-Quentin-en-Yvelines, Versailles, France.

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http://dx.doi.org/10.1183/09031936.00118414DOI Listing
June 2015

Systematic neonatal screening for severe combined immunodeficiency and severe T-cell lymphopenia: Analysis of cost-effectiveness based on French real field data.

J Allergy Clin Immunol 2015 Jun 1;135(6):1589-93. Epub 2015 Apr 1.

URC Eco (Clinical Research Unit in Health Economics), Assistance Publique-Hôpitaux de Paris, Hôtel Dieu Hospital, Paris, France; Public Health Unit, Henri Mondor Hospital, Assistance Publique-Hôpitaux de Paris, INSERM UMR 1123, Créteil, France. Electronic address:

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http://dx.doi.org/10.1016/j.jaci.2015.02.004DOI Listing
June 2015

LYST controls the biogenesis of the endosomal compartment required for secretory lysosome function.

Traffic 2015 Feb 6;16(2):191-203. Epub 2015 Jan 6.

INSERM UMR1163, Laboratory of Normal and Pathological Homeostasis of the Immune System, F-75015, Paris, France; Paris Descartes University-Sorbonne Paris Cité, Imagine Institute, F-75015, Paris, France.

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http://dx.doi.org/10.1111/tra.12244DOI Listing
February 2015

Incidence, presentation, and prognosis of malignancies in ataxia-telangiectasia: a report from the French national registry of primary immune deficiencies.

J Clin Oncol 2015 Jan 8;33(2):202-8. Epub 2014 Dec 8.

Felipe Suarez, Nizar Mahlaoui, Danielle Canioni, Nicole Brousse, Jean-Philippe Jais, Alain Fischer, and Olivier Hermine, Hôpital Universitaire Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris; Felipe Suarez, Nizar Mahlaoui, Chantal Andriamanga, Alain Fischer, and Olivier Hermine, French National Reference Center for Primary Immune Deficiency; Felipe Suarez, Nizar Mahlaoui, Jean-Philippe Jais, Alain Fischer, and Olivier Hermine, Imagine Institute, Institut National de la Recherche Scientifique Unité Mixte de Recherche 1163, Sorbonne Paris Cité, Université Paris Descartes; Felipe Suarez and Olivier Hermine, Centre National de la Recherche Scientifique Equipe de Recherche Labellisée 8254; Danielle Canioni, Nicole Brousse, and Dominique Stoppa-Lyonnet, Université Paris Descartes; Catherine Dubois d'Enghien and Dominique Stoppa-Lyonnet, Institut Curie; and Alain Fischer, Collège de France, Paris, France.

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http://dx.doi.org/10.1200/JCO.2014.56.5101DOI Listing
January 2015

Variant of X-Linked Chronic Granulomatous Disease Revealed by a Severe Burkholderia cepacia Invasive Infection in an Infant.

Case Reports Immunol 2013 21;2013:323614. Epub 2013 Jul 21.

Laboratory of Human Genetics of Infectious Diseases, INSERM U980, University Paris Descartes, Paris Sorbonne Cité, 75014 Paris, France ; French Reference Center for Primary Immune Deficiencies (CEREDIH), Necker-Enfants Malades University Hospital, AP-HP, 75015 Paris, France.

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http://dx.doi.org/10.1155/2013/323614DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4207590PMC
November 2014

Prevention of infections during primary immunodeficiency.

Clin Infect Dis 2014 Nov 14;59(10):1462-70. Epub 2014 Aug 14.

Centre de Référence des Déficits Immunitaires Héréditaires Centre d'Infectiologie Necker Pasteur, Hôpital Necker-Enfants Malades, Assistance publique-Hôpitaux de Paris (AP-HP) Sorbonne Paris Cité, Université Paris Descartes, Institut-Hospitalo-Universitaire (IHU) Imagine.

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http://dx.doi.org/10.1093/cid/ciu646DOI Listing
November 2014

Inflammatory manifestations in a single-center cohort of patients with chronic granulomatous disease.

J Allergy Clin Immunol 2014 Sep 27;134(3):655-662.e8. Epub 2014 Jun 27.

Assistance Publique-Hôpitaux de Paris, Service d'Immuno-Hématologie et Rhumatologie Pédiatrique, Hôpital Universitaire Necker-Enfants Malades, Paris, France; Assistance Publique-Hôpitaux de Paris, Centre de Référence des Déficits Immunitaires Héréditaires (CEREDIH), Hôpital Universitaire Necker-Enfants Malades, Paris, France; University Paris Descartes, Sorbonne Paris Cité, Institut Imagine, Paris, France; Laboratoire de Génétique Humaine des Maladies Infectieuses, Hopital Universitaire Necker-Enfants Malades, Inserm U1163, Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.jaci.2014.04.014DOI Listing
September 2014

The pleiotropic movement disorders phenotype of adult ataxia-telangiectasia.

Neurology 2014 Sep 13;83(12):1087-95. Epub 2014 Aug 13.

From INSERM, UMRS 975, CNRS 7225-CRICM (A.M., E.A., S.R.-P., A.D., M.V., D.G.), AP-HP, Fédération de Neurophysiologie Clinique (B.G., T.M.), AP-HP, Département des Maladies du Système Nerveux (B.D., M.V., D.G.), Département de Génétique et Cytogénétique, Unité Fonctionnelle de Génétique Chromosomique (B.B.), and Département de Génétique et Cytogénétique (A.D., M.A.), Hôpital Pitié-Salpêtrière, Paris; Université Pierre et Marie Curie-Paris-6 (A.M., B.G., E.A., S.R.-P., B.D., A.D., M.V., D.G.); AP-HP, Service de Physiologie (Y.A.-B., E.A.), Hôpital Saint-Antoine; INSERM U830 (G.R., M.-H.S., D.S.-L.), Paris; Unité d'Immuno-Hématologie et Rhumatologie Pédiatriques (N.M., A.F.), CEREDIH (French Reference Center for Primary Immunodeficiencies) (N.M., F.S., A.F.), and Service d'Hématologie Adultes (F.S.), Hôpital Universitaire Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris (APHP); Imagine Institute (N.M., F.S., A.F.), Sorbonne Paris Cité (D.S.-L.), Université Paris Descartes; Département de Neurologie (C.T., M.A.), Hôpital Civil de Strasbourg; Fédération de Médecine Translationnelle de Strasbourg (FMTS) (C.T., M.A.), Université de Strasbourg; Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC) (C.T., M.K., M.A.), INSERM-U964/CNRS-UMR7104/Université de Strasbourg, Illkirch; Laboratoire de Diagnostic Génétique (M.K.), Nouvel Hôpital Civil, Strasbourg; Laboratoire de Génétique des Maladies Rares (M.K.), INSERM UMR_S 827, Institut Universitaire de Recherche Clinique, Montpellier; and Department of Tumour Biology (M.-H.S., C.D.E., D.S.-L.), Institut Curie, Paris, France.

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http://www.neurology.org/cgi/doi/10.1212/WNL.000000000000079
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http://dx.doi.org/10.1212/WNL.0000000000000794DOI Listing
September 2014

RAS-associated lymphoproliferative disease evolves into severe juvenile myelo-monocytic leukemia.

Blood 2014 Mar;123(12):1960-3

INSERM UMR 1163, Laboratory of Immunogenetics of Pediatric Autoimmune Diseases, Paris, France Paris Descartes-Sorbonne Paris Cité University, Imagine Institute, Paris, France.

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http://dx.doi.org/10.1182/blood-2014-01-548958DOI Listing
March 2014

Evaluation of the T-cell receptor excision circle assay performances for severe combined immunodeficiency neonatal screening on Guthrie cards in a French single centre study.

Clin Immunol 2014 Feb 1;150(2):137-9. Epub 2013 Dec 1.

CEREDIH (Centre de Référence des Déficits Immunitaires Héréditaires), Hôpital Necker, APHP Paris, 75743 Paris, France; Unité d'Immunologie, d'Hématologie et de Rhumatologie Pédiatrique, Hôpital Necker, APHP Paris, 75743 Paris, France; Université Paris Descartes, Institut Imagine, Paris, France.

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http://dx.doi.org/10.1016/j.clim.2013.11.012DOI Listing
February 2014

Efficacy and safety of thalidomide in patients with inflammatory manifestations of chronic granulomatous disease: a retrospective case series.

J Allergy Clin Immunol 2013 Oct 20;132(4):997-1000.e1-4. Epub 2013 Jun 20.

Assistance Publique-Hôpitaux de Paris, CEREDIH, Centre de Référence Déficits Immunitaires Héréditaires, Hôpital Necker-Enfants Malades, Paris, France; Assistance Publique-Hôpitaux de Paris, Service de Maladies Infectieuses et Tropicales, Centre d'Infectiologie Necker Pasteur, Paris, France; Institut Imagine, Université Sorbonne Paris Cité, Paris, France.

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http://dx.doi.org/10.1016/j.jaci.2013.04.059DOI Listing
October 2013

Characteristics and outcome of early-onset, severe forms of Wiskott-Aldrich syndrome.

Blood 2013 Feb 20;121(9):1510-6. Epub 2012 Dec 20.

Unité d'Immunologie et d'Hématologie Pédiatrique, Hôpital Universitaire Necker-Enfants Malades, Assistance Publique des Hôpitaux de Paris (AP-HP), Paris, France.

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http://dx.doi.org/10.1182/blood-2012-08-448118DOI Listing
February 2013

Epidemiology of congenital neutropenia.

Hematol Oncol Clin North Am 2013 Feb;27(1):1-17, vii

Service d'Hémato Oncologie Pédiatrique Registre des neutropénies congénitales, Assistance Publique-Hôpitaux de Paris, Hopital Trousseau 26 Avenue du Dr Netter, Paris F 75012, France.

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https://linkinghub.elsevier.com/retrieve/pii/S08898588120021
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http://dx.doi.org/10.1016/j.hoc.2012.11.003DOI Listing
February 2013

Primary immunodeficiency diseases worldwide: more common than generally thought.

J Clin Immunol 2013 Jan 31;33(1):1-7. Epub 2012 Jul 31.

Clinical Immunology Unit, King Hassan II University, Averroes Hospital, Casablanca, Morocco.

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http://dx.doi.org/10.1007/s10875-012-9751-7DOI Listing
January 2013

[Chronic granulomatous disease: pathogenesis and therapy of associated fungal infections].

Med Sci (Paris) 2012 Nov 12;28(11):963-9. Epub 2012 Nov 12.

Service de maladies infectieuses et tropicales, Hôpital Necker Enfants-malades, Paris, France.

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http://dx.doi.org/10.1051/medsci/20122811015DOI Listing
November 2012

Invasive mold infections in chronic granulomatous disease: a 25-year retrospective survey.

Clin Infect Dis 2011 Dec;53(12):e159-69

Immunology and Haematology Unit, Hôpital Necker Enfants Malades, Paris, France.

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http://dx.doi.org/10.1093/cid/cir731DOI Listing
December 2011

Congenital neutropenia: diagnosis, molecular bases and patient management.

Orphanet J Rare Dis 2011 May 19;6:26. Epub 2011 May 19.

Service d'Hémato-Oncologie Pédiatrique Registre des neutropénies congénitales, AP-HP Hopital Trousseau, 26 avenue du Dr Netter, Paris, France.

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http://dx.doi.org/10.1186/1750-1172-6-26DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3127744PMC
May 2011

Laronidase for cardiopulmonary disease in Hurler syndrome 12 years after bone marrow transplantation.

Pediatrics 2010 Nov 25;126(5):e1242-7. Epub 2010 Oct 25.

Reference Center for Inherited Metabolic Disorders, Necker-Enfants Malades Hospital, 149 Rue de Sèvres, 75015 Paris, France.

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http://dx.doi.org/10.1542/peds.2009-2843DOI Listing
November 2010

A newly identified isoform of Slp2a associates with Rab27a in cytotoxic T cells and participates to cytotoxic granule secretion.

Blood 2008 Dec 23;112(13):5052-62. Epub 2008 Sep 23.

Laboratoire du Développement Normal et Pathologique du Système Immunitaire, Inserm, Unité U768, Paris, France.

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http://dx.doi.org/10.1182/blood-2008-02-141069DOI Listing
December 2008

[Infections in splenectomized patient].

Rev Prat 2008 Dec;58(20):2209-14

Université Paris-Descartes, Assistance publique-Hôpitaux de Paris, hôpital Necker-Enfants malades, Paris, France.

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December 2008

[Curing a congenital immunologic deficiency].

Rev Prat 2007 Oct;57(15):1699-700

Unité d'immuno-hématologie et rhumatologie pédiatriques, hôpital Necker-Enfants-malades, 75743 Paris 15.

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October 2007

Management options for adenosine deaminase deficiency; proceedings of the EBMT satellite workshop (Hamburg, March 2006).

Clin Immunol 2007 May 14;123(2):139-47. Epub 2007 Feb 14.

Molecular Immunology Unit, Institute of Child Health, University College London, and Department of Clinical Immunology, Great Ormond Street Hospital NHS Trust, London WC1N 3JH, UK.

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http://dx.doi.org/10.1016/j.clim.2006.12.009DOI Listing
May 2007

A child with a systemic febrile illness - differential diagnosis and management.

Best Pract Res Clin Rheumatol 2006 Aug;20(4):627-40

Paediatric Rheumatology, Centre Multisite Romand de Rhumatologie Pédiatrique, Department of Paediatrics, University Hospitals of Lausanne and Geneva, Switzerland.

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http://dx.doi.org/10.1016/j.berh.2006.04.001DOI Listing
August 2006