Publications by authors named "Genevieve de Saint Basile"

100Publications

Improving the diagnostic efficiency of primary immunodeficiencies with targeted next-generation sequencing.

J Allergy Clin Immunol 2020 Jun 10. Epub 2020 Jun 10.

University of Paris, Institut National de la Santé et de la Recherche Médicale (INSERM) Unité Mixte de Recherche (UMR) 1163, Imagine Institute, Paris, France; Study Center for Primary Immunodeficiencies, Necker Hospital for Sick Children-Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France; Laboratory of Lymphocyte Activation and Susceptibility to EBV infection, INSERM-UMR 1163, Paris, France; Pediatric Immuno-Hematology and Rheumatology Unit, Necker Hospital for Sick Children, AP-HP, Paris, France; French National Reference Center for Primary Immune Deficiencies, Le Centre de Référence Déficits Immunitaires Héréditaires, Necker Hospital for Sick Children, AP-HP, Paris, France.

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http://dx.doi.org/10.1016/j.jaci.2020.05.046DOI Listing
June 2020

Functional and genetic testing in adults with HLH reveals an inflammatory profile rather than a cytotoxicity defect.

Blood 2020 Jul;136(5):542-552

Service de Médecine Interne et Immunologie Clinique, CHU de la Conception, Assistance Publique-Hôpitaux de Marseille (AP-HM), Aix-Marseille Université, Marseille, France.

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http://dx.doi.org/10.1182/blood.2019003664DOI Listing
July 2020

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 10 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

Ttc7a regulates hematopoietic stem cell functions while controlling the stress-induced response.

Haematologica 2020 01 19;105(1):59-70. Epub 2019 Apr 19.

Laboratory of Normal and Pathological Homeostasis of the Immune System, INSERM UMR 1163, Imagine Institute, Paris

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http://www.haematologica.org/lookup/doi/10.3324/haematol.201
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http://dx.doi.org/10.3324/haematol.2018.207100DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6939534PMC
January 2020

Intestinal dysbiosis in inflammatory bowel disease associated with primary immunodeficiency.

J Allergy Clin Immunol 2019 02 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

Kinesin-1 Is a New Actor Involved in Platelet Secretion and Thrombus Stability.

Arterioscler Thromb Vasc Biol 2018 05 8;38(5):1037-1051. Epub 2018 Mar 8.

INSERM, UMR_S 1163, Laboratory of Normal and Pathological Homeostasis of the Immune System, Paris, France (M.K., I.M., A.F., G.d.S.B., G.M.).

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http://dx.doi.org/10.1161/ATVBAHA.117.310373DOI Listing
May 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

Late-onset hemophagocytic lymphohistiocytosis with neurological presentation.

Clin Case Rep 2017 11 12;5(11):1743-1749. Epub 2017 Sep 12.

Institut National de la Santé et de la Recherche Médicale U1111 Université de Lyon 1 Lyon France.

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http://dx.doi.org/10.1002/ccr3.1135DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5676276PMC
November 2017

Hemophagocytic syndrome: primary forms and predisposing conditions.

Curr Opin Immunol 2017 Dec 1;49:20-26. Epub 2017 Sep 1.

INSERM UMR1163, Laboratory of Normal and Pathological Homeostasis of the Immune System, Paris F-75015, France; Paris Descartes University-Sorbonne Paris Cité, Imagine Institute, Paris F-75015, France; Centre d'Etudes des Déficites Immunitaires, Assistance Publique-Hôpitaux de Paris, F-75015, France. Electronic address:

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http://dx.doi.org/10.1016/j.coi.2017.08.004DOI Listing
December 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

Therapeutic effect of JAK1/2 blockade on the manifestations of hemophagocytic lymphohistiocytosis in mice.

Blood 2016 07 24;128(1):60-71. Epub 2016 May 24.

INSERM UMR1163, Laboratory of Normal and Pathological Homeostasis of the Immune System, Paris, France; Paris Descartes University-Sorbonne Paris Cité, Imagine Institute, Paris, France; Centre d'Etudes des Déficits Immunitaires, Assistance Publique-Hôpitaux de Paris, Hôpital Necker, Paris, France.

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http://dx.doi.org/10.1182/blood-2016-02-700013DOI Listing
July 2016

Polygenic mutations in the cytotoxicity pathway increase susceptibility to develop HLH immunopathology in mice.

Blood 2016 04 10;127(17):2113-21. Epub 2016 Feb 10.

INSERM Unité Mixte de Recherche 1163, Laboratory of Normal and Pathological Homeostasis of the Immune System, Paris, France; Paris Descartes University-Sorbonne Paris Cité, Imagine Institute, Paris, France; Centre d'Etudes des Déficits Immunitaires, Assistance Publique-Hôpitaux de Paris, Hôpital Necker, Paris, France.

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http://dx.doi.org/10.1182/blood-2015-12-688960DOI Listing
April 2016

Cytotoxic granule secretion by lymphocytes and its link to immune homeostasis.

F1000Res 2015 30;4(F1000 Faculty Rev):930. Epub 2015 Sep 30.

INSERM UMR1163, Laboratory of Normal and Pathological Homeostasis of the Immune System, Paris, F-75015, France ; Paris Descartes University-Sorbonne Paris Cité, Imagine Institute, Paris, F-75015, France ; Immunology and Pediatric Hematology Department, Necker Children's Hospital, AP-HP, Paris, France ; Collège de France, Paris, F-75005, France.

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http://dx.doi.org/10.12688/f1000research.6754.1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4648190PMC
November 2015

Rab27a controls HIV-1 assembly by regulating plasma membrane levels of phosphatidylinositol 4,5-bisphosphate.

J Cell Biol 2015 May 4;209(3):435-52. Epub 2015 May 4.

Instituto de Investigaciones Biomédicas en Retrovirus y Síndrome de Inmunodeficiencia Adquirida (INBIRS)-Consejo Nacional de Investigaciones Científicas y Técnicas (CONICET), Universidad de Buenos Aires, C1121ABG Buenos Aires, Argentina

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http://dx.doi.org/10.1083/jcb.201409082DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4427790PMC
May 2015

A novel immunoregulatory role for NK-cell cytotoxicity in protection from HLH-like immunopathology in mice.

Blood 2015 Feb 18;125(9):1427-34. Epub 2014 Dec 18.

Laboratory of Normal and Pathological Homeostasis of the Immune System, INSERM Unité Mixte de Recherche 1163, Paris France; Imagine Institute, Paris Descartes University-Sorbonne Paris Cité, Paris France; Centre d'Etudes des Déficits Immunitaires, Assistance Publique-Hôpitaux de Paris, Hôpital Necker, Paris, France.

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http://www.bloodjournal.org/content/early/2014/12/17/blood-2
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http://www.bloodjournal.org/content/bloodjournal/125/9/1427.
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http://www.bloodjournal.org/cgi/doi/10.1182/blood-2014-09-60
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http://dx.doi.org/10.1182/blood-2014-09-602946DOI Listing
February 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

Synaptic release of CCL5 storage vesicles triggers CXCR4 surface expression promoting CTL migration in response to CXCL12.

J Immunol 2014 Nov 10;193(10):4952-61. Epub 2014 Oct 10.

Unité U753, INSERM, Villejuif 94805, France; Institut de Cancérologie Gustave Roussy, Villejuif 94805, France; Université Paris-Sud, Orsay 91400, France;

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http://dx.doi.org/10.4049/jimmunol.1401184DOI Listing
November 2014

Griscelli syndrome type 3-like phenotype with MYO-5A exon-F deletion.

Pediatr Allergy Immunol 2014 Dec 31;25(8):817-9. Epub 2014 Oct 31.

Division of Pediatric Allergy and Immunology, Cukurova University, Adana, Turkey.

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http://dx.doi.org/10.1111/pai.12285DOI Listing
December 2014

Immune deficiency-related enteropathy-lymphocytopenia-alopecia syndrome results from tetratricopeptide repeat domain 7A deficiency.

J Allergy Clin Immunol 2014 Dec 28;134(6):1354-1364.e6. Epub 2014 Aug 28.

INSERM, Unité U1163, Laboratoire Homéostasie normale et pathologique du système immunitaire, Hôpital Necker Enfants-Malades, Paris, France; Université Paris Descartes-Sorbonne Paris Cité, Institut Imagine, Paris, France; Unité d'Immunologie et Hématologie Pédiatrique, Assistance Publique-Hôpitaux de Paris, Hôpital Necker Enfants-Malades, Paris, France; Centre d'Etudes des Déficits Immunitaires, Assistance Publique-Hôpitaux de Paris, Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.jaci.2014.07.019DOI Listing
December 2014

Patients with T⁺/low NK⁺ IL-2 receptor γ chain deficiency have differentially-impaired cytokine signaling resulting in severe combined immunodeficiency.

Eur J Immunol 2014 Oct 28;44(10):3129-40. Epub 2014 Aug 28.

Center for Chronic Immunodeficiency (CCI), University Medical Center and University of Freiburg, Freiburg, Germany; Faculty of Biology, University of Freiburg, Freiburg, Germany.

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http://dx.doi.org/10.1002/eji.201444689DOI Listing
October 2014

[TTC7A, a critical effector for the intestinal and immune system homeostasis].

Med Sci (Paris) 2014 Jun-Jul;30(6-7):616-8. Epub 2014 Jul 11.

Inserm, unité U1163, laboratoire homéostasie normale et pathologique du système immunitaire, hôpital Necker Enfants-malades, Paris, France - Université Paris Descartes-Sorbonne Paris Cité, Institut Imagine , 24, boulevard du Montparnasse, 75015 Paris, France.

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http://dx.doi.org/10.1051/medsci/20143006006DOI Listing
September 2014

Graded defects in cytotoxicity determine severity of hemophagocytic lymphohistiocytosis in humans and mice.

Front Immunol 2013 16;4:448. Epub 2013 Dec 16.

Centre of Chronic Immunodeficiency, University Medical Center Freiburg, University of Freiburg , Freiburg , Germany.

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http://dx.doi.org/10.3389/fimmu.2013.00448DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3864253PMC
December 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

Familial Hemophagocytic Lymphohistiocytosis with A665G Perforin Gene Mutation: A Case Report.

Turk J Haematol 2012 Sep 5;29(3):265-9. Epub 2012 Oct 5.

Gazi University, School of Medicine, Department of Pediatrics, Ankara, Turkey.

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http://dx.doi.org/10.5505/tjh.2012.62134DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3986752PMC
September 2012

Terminal transport of lytic granules to the immune synapse is mediated by the kinesin-1/Slp3/Rab27a complex.

Blood 2012 Apr 3;119(17):3879-89. Epub 2012 Feb 3.

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

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http://dx.doi.org/10.1182/blood-2011-09-382556DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3824283PMC
April 2012

Inherited defects causing hemophagocytic lymphohistiocytic syndrome.

Ann N Y Acad Sci 2011 Dec;1246:64-76

Institut National de la Santé et de la Recherche Médicale, Paris, France.

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http://doi.wiley.com/10.1111/j.1749-6632.2011.06307.x
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http://dx.doi.org/10.1111/j.1749-6632.2011.06307.xDOI Listing
December 2011

Genotype, phenotype, and outcomes of nine patients with T-B+NK+ SCID.

Pediatr Transplant 2011 Nov 23;15(7):733-41. Epub 2011 Aug 23.

Division of Immunology and Allergy, Department of Pediatrics, Stanford University School of Medicine and Lucile Packard Children's Hospital at Stanford, Palo Alto, CA, USA.

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http://dx.doi.org/10.1111/j.1399-3046.2011.01563.xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3196791PMC
November 2011

Hemophagocytic lymphohistiocytosis with Munc13-4 mutation: a cause of recurrent fatal hydrops fetalis.

Pediatrics 2011 Jul 6;128(1):e251-4. Epub 2011 Jun 6.

Institut d’Hématologie et d’Oncologie Pédiatrique, Hospices Civils de Lyon, Université Lyon I, Lyon, France.

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http://dx.doi.org/10.1542/peds.2010-0764DOI Listing
July 2011

Occurrence of aortic aneurysms in 5 cases of Wiskott-Aldrich syndrome.

Pediatrics 2011 Feb 24;127(2):e498-504. Epub 2011 Jan 24.

Department of Pediatrics, Unité d'Hématologie-Immunologie-Oncologie Pédiatrique, Centre Hospitalier Universitaire d'Angers, Angers, France.

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http://dx.doi.org/10.1542/peds.2009-2987DOI Listing
February 2011

Molecular mechanisms of biogenesis and exocytosis of cytotoxic granules.

Nat Rev Immunol 2010 Aug 16;10(8):568-79. Epub 2010 Jul 16.

Institut National de la Santé et de la Recherche Médicale (INSERM), U768, Hôpital Necker Enfants Malades, 149 rue de Sèvres, 75015 Paris, France.

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http://www.nature.com/articles/nri2803
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http://dx.doi.org/10.1038/nri2803DOI Listing
August 2010

Inherited defects in lymphocyte cytotoxic activity.

Immunol Rev 2010 May;235(1):10-23

Institut National de la Santé et de la Recherche Médicale (INSERM), U768, 75015 Paris, France.

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http://dx.doi.org/10.1111/j.0105-2896.2010.00890.xDOI Listing
May 2010

Neutralization of IFNgamma defeats haemophagocytosis in LCMV-infected perforin- and Rab27a-deficient mice.

EMBO Mol Med 2009 May;1(2):112-24

Institut National de la Santé et de la Recherche Médicale, Unité U768, Laboratoire du Développement Normal et Pathologique du Système Immunitaire, Paris, France.

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http://dx.doi.org/10.1002/emmm.200900009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3378118PMC
May 2009

EBAG9 tempers lymphocyte killing activity.

J Clin Invest 2009 Aug 20;119(8):2136-40. Epub 2009 Jul 20.

INSERM U768, Paris, France.

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http://dx.doi.org/10.1172/JCI40270DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2719923PMC
August 2009

Griscelli syndrome type 1: a report of two cases and review of the literature.

Clin Dysmorphol 2009 Jul;18(3):145-8

North West Thames Regional Genetics Centre, Northwick Park and St Mark's Hospital, Harrow, London, UK.

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https://insights.ovid.com/crossref?an=00019605-200907000-000
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http://dx.doi.org/10.1097/MCD.0b013e328317b870DOI Listing
July 2009

A concanavalin A-like lectin domain in the CHS1/LYST protein, shared by members of the BEACH family.

Bioinformatics 2009 May 16;25(10):1219-22. Epub 2009 Mar 16.

INSERM, U768, Paris, F-75015, France.

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http://dx.doi.org/10.1093/bioinformatics/btp151DOI Listing
May 2009

A Griscelli syndrome type 2 murine model of hemophagocytic lymphohistiocytosis (HLH).

Eur J Immunol 2008 Nov;38(11):3219-25

Institut National de la Santé et de la Recherche Médicale U768, Laboratoire du Développement Normal et Pathologique du Système Immunitaire, Paris, France.

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http://dx.doi.org/10.1002/eji.200838488DOI Listing
November 2008

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

Munc13-4 regulates granule secretion in human neutrophils.

J Immunol 2008 May;180(10):6786-97

Centre de Recherche en Rhumatologie et Immunologie, Centre de Recherche du Centre Hospitalier de l'Université Laval, Université Laval, Québec City, Québec, Canada.

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http://dx.doi.org/10.4049/jimmunol.180.10.6786DOI Listing
May 2008

Griscelli syndrome type 2: a rare and lethal disorder.

J Child Neurol 2008 Aug 10;23(8):964-7. Epub 2008 Apr 10.

Department of Pediatrics, Division of child Neurology, Jordan University Hospital, Amman, Jordan.

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http://dx.doi.org/10.1177/0883073808315409DOI Listing
August 2008

Genetic defects affecting lymphocyte cytotoxicity.

Curr Opin Immunol 2007 Jun 12;19(3):348-53. Epub 2007 Apr 12.

Unité d'Immunologie et Hématologie Pédiatrique, Assistance Publique, Hôpitaux de Paris Hôpital Necker-Enfants Malades, 149 Rue de Sèvres, Paris.

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http://dx.doi.org/10.1016/j.coi.2007.04.006DOI Listing
June 2007

Detection of 28 novel mutations in the Wiskott-Aldrich syndrome and X-linked thrombocytopenia based on multiplex PCR.

Blood Cells Mol Dis 2007 Jul-Aug;39(1):102-6. Epub 2007 Apr 2.

Service d'Hématologie, d'Immunologie et de Cytogénétique, Hôpital de Bicêtre, AP-HP, 78 rue du Général-Leclerc, 94275, Le Kremlin-Bicêtre, France.

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http://dx.doi.org/10.1016/j.bcmd.2007.02.007DOI Listing
September 2007

[Expression anomalies of the CD3-TCR complex expression and immunodeficiencies].

Med Sci (Paris) 2007 Feb;23(2):161-6

Département de microbiologie et d'immunologie, Université de Montréal, CHU Sainte-Justine, 3175, chemin de la Côte Sainte-Catherine, Montréal (Québec), H3T 1C5 Canada.

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http://dx.doi.org/10.1051/medsci/2007232161DOI Listing
February 2007

Secretory cytotoxic granule maturation and exocytosis require the effector protein hMunc13-4.

Nat Immunol 2007 Mar 21;8(3):257-67. Epub 2007 Jan 21.

Institut National de la Santé et de la Recherche Médicale Unité 768, Laboratoire du Développement Normal et Pathologique du Système Immunitaire, Paris F-75015 France.

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http://dx.doi.org/10.1038/ni1431DOI Listing
March 2007

XIAP deficiency in humans causes an X-linked lymphoproliferative syndrome.

Nature 2006 Nov;444(7115):110-4

Inserm 768, Laboratoire du Développement Normal et Pathologique du Système Immunitaire, Univ. René Descartes, Paris, F-75015, France.

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http://dx.doi.org/10.1038/nature05257DOI Listing
November 2006

[Defect in lytic granule exocytosis: several causes, a same effect].

Med Sci (Paris) 2006 Aug-Sep;22(8-9):733-8

Inserm U768, Hôpital Necker-Enfants-Malades, 149, rue de Sèvres, 75015 Paris, France.

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http://dx.doi.org/10.1051/medsci/20062289733DOI Listing
December 2006

Patients of African ancestry with hemophagocytic lymphohistiocytosis share a common haplotype of PRF1 with a 50delT mutation.

J Pediatr 2006 Jul;149(1):134-7

Divisions of Hematology/Oncology and Human Genetics, Cincinnati Children's Hospital Medical Center and the Center for Genome Information, University of Cincinnati, Cincinnati, Ohio, USA.

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http://dx.doi.org/10.1016/j.jpeds.2006.03.003DOI Listing
July 2006

Omenn syndrome in an infant with IL7RA gene mutation.

J Pediatr 2006 Feb;148(2):272-4

Department of Pediatrics and Angelo Nocivelli Institute for Molecular Medicine, University of Brescia, Spedali Civili, 25123 Brescia, Italy.

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http://dx.doi.org/10.1016/j.jpeds.2005.10.004DOI Listing
February 2006

Pediatric hemophagocytic syndromes: a diagnostic and therapeutic challenge.

Allergy Asthma Clin Immunol 2005 Dec 15;1(4):142-60. Epub 2005 Dec 15.

Division of Haematology and Oncology, Department of Paediatrics, Montreal Children's Hospital, McGill University Health Centre, Montreal, Quebec.

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http://dx.doi.org/10.1186/1710-1492-1-4-142DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2877072PMC
December 2005

CD3 deficiencies.

Curr Opin Allergy Clin Immunol 2005 Dec;5(6):491-5

Department of Pediatric Immuno-Hematology and Inserm Unit 429, Necker-Enfants Malades Hospital, Paris, France.

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http://dx.doi.org/10.1097/01.all.0000191886.12645.79DOI Listing
December 2005

Progressive neurologic dysfunctions 20 years after allogeneic bone marrow transplantation for Chediak-Higashi syndrome.

Blood 2005 Jul 24;106(1):40-2. Epub 2005 Mar 24.

Service de Neurologie, Département de Pédiatrie et Laboratoire de Neuropathologie, Hôpital Bicêtre, Assistance Publique-Hôpitaux de Paris, Paris, France.

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http://dx.doi.org/10.1182/blood-2005-01-0319DOI Listing
July 2005

Autoimmune lymphoproliferative syndrome and perforin.

N Engl J Med 2005 Jan;352(3):306-7; author reply 306-7

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http://dx.doi.org/10.1056/NEJM200501203520319DOI Listing
January 2005

Severe and progressive encephalitis as a presenting manifestation of a novel missense perforin mutation and impaired cytolytic activity.

Blood 2005 Apr 14;105(7):2658-63. Epub 2004 Dec 14.

Inistitut National de la Santé et de la Recherche Médicale (INSERM) U429, Hôpital Necker-Enfants Malades, 149 rue de Sèvres, 75743 Paris, Cedex 15, France.

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http://dx.doi.org/10.1182/blood-2004-09-3590DOI Listing
April 2005