المؤلفون: Joseph P. McGuirk, Constantine S. Tam, Nicolaus Kröger, Peter A. Riedell, Hemant S. Murthy, Phoebe Joy Ho, Joseph E. Maakaron, Edmund K. Waller, Farrukh T. Awan, Paul J. Shaughnessy, Armin Ghobadi, Michael R. Bishop, Ana Alfonso-Pierola, Michael Dickinson, Praveen Ramakrishnan Geethakumari, Ainsley Ross, William Stevens, Huansheng Xu, Anna Ma, Sarah Beaussant Cohen, Richard T. Maziarz, Carlos Bachier

المصدر: Blood. 140:10303-10306

مصطلحات موضوعية: Immunology, Cell Biology, Hematology, Biochemistry

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::a7203b7ac90153d8c9b7e2ef9401cd21
https://doi.org/10.1182/blood-2022-166432

المؤلفون: Elizabeth Fox, Michael Berntgen, Alfonso Quintás-Cardama, Veronique Minard-Colin, Susan L. Weiner, André Baruchel, Laura Pearce, Karsten Nysom, Andrew D.J. Pearson, Danielle H. Taylor, Christian M. Zwaan, Nirali N. Shah, Yousif Matloub, Ivan D. Horak, Gregory H. Reaman, Gilles Vassal, Koen Norga, Claudia Rossig, Dominik Karres, Lori A. Ehrlich, Martina Schüßler-Lenz, Alberto S. Pappo, Joe McDonough, Martina A. Sersch, Nick Richardson, Donna Ludwinski, Abraham Bassan, Eric Bleickardt, Nicole Scobie, Stephen Gottschalk, Rob Pieters, Sarah K. Tasian, Courtney Johnson, Teresa de Rojas, Malcolm A. Smith, Franca Ligas, Lynley V. Marshall, Shannon L. Maude, Brenda J. Weigel, Nick Bird, Najat Bouchkouj, Behzad K. Masouleh, Sarah Beaussant Cohen, Delphine Heenen, Rosanna Ricafort, G. Lesa, Linda Hanssens, Peter F. Bross, Carrie Brownstein, Crystal L. Mackall, Martin Pule, Douglas S. Hawkins, Jaroslav Sterba, Maksim Mamonkin

المصدر: European Journal of Cancer. 160:112-133

مصطلحات موضوعية: 0303 health sciences, Cancer Research, medicine.medical_specialty, education.field_of_study, medicine.medical_treatment, Population, Immunotherapy, Disease, Chimeric antigen receptor, 3. Good health, Transplantation, Cell therapy, Clinical trial, 03 medical and health sciences, 0302 clinical medicine, Oncology, Drug development, hemic and lymphatic diseases, 030220 oncology & carcinogenesis, medicine, Intensive care medicine, education, 030304 developmental biology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::109dc83dd17c2fd2077a3e812e4df67f
https://doi.org/10.1016/j.ejca.2021.10.016

المؤلفون: Andrew Dj, Pearson, Claudia, Rossig, Crystal, Mackall, Nirali N, Shah, Andre, Baruchel, Gregory, Reaman, Rosanna, Ricafort, Delphine, Heenen, Abraham, Bassan, Michael, Berntgen, Nick, Bird, Eric, Bleickardt, Najat, Bouchkouj, Peter, Bross, Carrie, Brownstein, Sarah Beaussant, Cohen, Teresa, de Rojas, Lori, Ehrlich, Elizabeth, Fox, Stephen, Gottschalk, Linda, Hanssens, Douglas S, Hawkins, Ivan D, Horak, Danielle H, Taylor, Courtney, Johnson, Dominik, Karres, Franca, Ligas, Donna, Ludwinski, Maksim, Mamonkin, Lynley, Marshall, Behzad K, Masouleh, Yousif, Matloub, Shannon, Maude, Joe, McDonough, Veronique, Minard-Colin, Koen, Norga, Karsten, Nysom, Alberto, Pappo, Laura, Pearce, Rob, Pieters, Martin, Pule, Alfonso, Quintás-Cardama, Nick, Richardson, Martina, Schüßler-Lenz, Nicole, Scobie, Martina A, Sersch, Malcolm A, Smith, Jaroslav, Sterba, Sarah K, Tasian, Brenda, Weigel, Susan L, Weiner, Christian Michel, Zwaan, Giovanni, Lesa, Gilles, Vassal

المصدر: European journal of cancer
European journal of cancer, 160:112-133

مصطلحات موضوعية: Receptors, Chimeric Antigen, Adolescent, United States Food and Drug Administration, Receptors, Antigen, T-Cell, Medical Oncology, Pediatrics, United States, CAR T-cell, Paediatric Strategy Forum, Drug development, Adoptive cellular immunotherapy, Paediatric oncology, CAR-T-Zell-Therapie, Cancer therapeutics, Europe, Drug Development, hemic and lymphatic diseases, Humans, Human medicine, Child

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::7e4b2ff665e9b497893f3198ef4554c2
https://repository.uantwerpen.be/docstore/d:irua:12922

المؤلفون: Victor W. Hsu, Seung-Yeol Park, Tobias C. Walther, Raif S. Geha, Maria Tsokos, Sarah Beaussant-Cohen, Seth Rakoff-Nahoum, Wayne Bainter, Shafiq Ur Rehman Naseem, Craig D. Platt, Janet Chou, Zachary Peters, Michel J. Massaad, Jennifer Jones, Chitong Rao, Michel Becuwe, Jordan S. Orange, Faris Jaber, Salem Al-Tamemi, Sandra Andrea Salinas, Jacqueline G. Wallace, Jia-Shu Yang, Kelsey Stafstrom

المصدر: J Clin Invest

مصطلحات موضوعية: 0301 basic medicine, Cellular immunity, Receptors, Peptide, T-Lymphocytes, KDEL, Mutation, Missense, Golgi Apparatus, Apoptosis, Gene mutation, Endoplasmic Reticulum, Lymphocyte Activation, Coatomer Protein, Mice, 03 medical and health sciences, symbols.namesake, 0302 clinical medicine, Animals, Humans, Defective T cell proliferation, B-Lymphocytes, Chemistry, Endoplasmic reticulum, General Medicine, COPI, Golgi apparatus, Endoplasmic Reticulum Stress, Mice, Mutant Strains, Cell biology, 030104 developmental biology, Amino Acid Substitution, 030220 oncology & carcinogenesis, Unfolded protein response, symbols, Severe Combined Immunodeficiency, Research Article

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::299891811f4bf8261095c8b0e62c65ad
https://doi.org/10.1172/jci140494

المؤلفون: Claudia Djambas Khayat, Cybel Mehawej, Janet Chou, Raif S. Geha, Mohammed F. Alosaimi, Jacqueline G. Wallace, Abduarahman Almutairi, Faris Jaber, Sarah Beaussant-Cohen, Geraldine S. Pinkus, Mark D. Fleming

المصدر: J Allergy Clin Immunol

مصطلحات موضوعية: business.industry, ITK Deficiency, Autoimmune lymphoproliferative syndrome, Immunology, medicine, Immunology and Allergy, medicine.disease, business, Article

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9204a0eb287b966a8667561ffa37cc0a
https://europepmc.org/articles/PMC7779661/

المؤلفون: Vojtech Thon, Bénédicte Neven, Frank L. van de Veerdonk, Anna Villa, Mario Abinun, Jean Donadieu, Christoph Klein, Hans D. Ochs, Despina Moshous, Geneviève de Saint Basile, Klaus Warnatz, Alain Fischer, Sofia Grigoriadou, Nizar Mahlaoui, Raphael Scheible, Dominique Stoppa-Lyonnet, Nicolette Moes, Shen-Yin Zhang, Reinhard Seger, Isabelle Meyts, Sarah Beaussant Cohen, Andrew J. Cant, Bodo Grimbacher, Markus G. Seidel, Frédéric Rieux-Laucat, Michael H. Albert, Lukas M. Gasteiger, Stephan Ehl, David Edgar, Joris M. van Montfrans, Ania Manson, Maria Kanariou, Richard Gatti, Capucine Picard, Teresa Espanol, Beata Wolska, Amos Etzioni, Anne Durandy, Stephan Rusch, Jacinta Bustamante, Gerhard Kindle, Esther de Vries, Andrew R. Gennery, Annarosa Soresina, Benjamin Gathmann, Helen Chapel, Isabella Quinti, Steven M. Holland, Helen J. Lachmann, Adrian J. Thrasher, Inderjeet Dokal, Ellen D. Renner, Gritta Janka, Natalia Martinez, Bobby Gaspar, Desa Lilic, Matthew Buckland, Jean-Laurent Casanova, Corry M.R. Weemaes

المساهمون: Tranzo, Scientific center for care and wellbeing, Huisarts & Ziekenhuis

المصدر: The Journal of Allergy and Clinical Immunology. In Practice, 7(6), 1763-1770. Elsevier
Journal of Allergy and Clinical Immunology. In Practice, 7, 1763-1770
Journal of Allergy and Clinical Immunology: In Practice, 7(6), 1763. Elsevier
Journal of Allergy and Clinical Immunology. In Practice, 7, 6, pp. 1763-1770

مصطلحات موضوعية: medicine.medical_specialty, Registry, Consensus, Epidemiology, Primary immune deficiency and immune dysregulation disorder (PIDD), lnfectious Diseases and Global Health Radboud Institute for Molecular Life Sciences [Radboudumc 4], Diagnostic algorithm, Disease, Guideline, Classification, Primary immunodeficiency (PID), Immunology and Allergy, 03 medical and health sciences, 0302 clinical medicine, HISTORY, medicine, Journal Article, Humans, 030212 general & internal medicine, Registries, Intensive care medicine, Societies, Medical, GuidelineDiagnostic algorithmClassification, WARNING SIGNS, business.industry, Common variable immunodeficiency, Genetic Diseases, Inborn, Immunologic Deficiency Syndromes, medicine.disease, Clinical trial, Europe, Clinical research, 030228 respiratory system, Sample size determination, Clinical diagnosis, DISEASES, business

وصف الملف: image/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a70466cd03f2576a9c2a054c6a955faf
https://research.tilburguniversity.edu/en/publications/117b1dbb-c5a6-45b4-b69f-962fb05c06f7

المؤلفون: Ismail Reisli, Chafa Bendahmane, Erdem Basaran, Enrica Calzoni, Jennifer Jones, Janet Chou, Michael J. Lenardo, Craig D. Platt, Julia Pazmandi, Hye Sun Kuehn, Raul Jimenez Heredia, Helen C. Su, Ayşen Bingöl, Sergio D. Rosenzweig, Fulvio Porta, Raif S. Geha, Sevgi Keles, Melike Emiroglu, Nafissa Benhalla, Lixin Zheng, Yu Zhang, Francesca Pala, Sarah Beaussant-Cohen, Jasmin Dmytrus, Vedat Uygun, Kaan Boztug, Kamel Djenouhat, Jacqueline G. Wallace, Silvia Giliani, Tomas Kirchhausen, Bertrand Boisson, Hasibe Artac, Luigi D. Notarangelo, Dilara Fatma Kocacık Uygun, Azzeddine Tahiat, Gaetana Lanzi, Mithun Pasham

المساهمون: Selçuk Üniversitesi, Tıp Fakültesi, Dahili Tıp Bilimleri Bölümü, Artac, Hasibe., Emiroglu, Melike.

مصطلحات موضوعية: 0301 basic medicine, Immunology and Allergy, Immunology, genetic structures, Biology, biochemical phenomena, metabolism, and nutrition, immune deficiency, Endocytosis, FCHO1, eye diseases, Article, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Immune system, BAR domain, sense organs, protein, human activities, 030217 neurology & neurosurgery

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cd17f273998eb5b990c9f8174769f95f
http://hdl.handle.net/11379/514593

المؤلفون: Lewis C. Cantley, Raif S. Geha, Wayne Bainter, Jennifer Jones, Farah Naz Qamar, Janet Chou, Jacqueline G. Wallace, Jared L. Johnson, Jenny C.Y. Wong, Sonia Qureshi, Ting-Yu Lin, Sarah Beaussant Cohen, Fatima Mir

مصطلحات موضوعية: Immunology, Mutant, Biology, medicine.disease, Acquired immune system, Article, Cell biology, P110δ, Primary immunodeficiency, medicine, Immunology and Allergy, A kinase, Signal transduction, Function (biology), Immunodeficiency

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::329df91d56f611cefcd74962fcb9f5b5
https://europepmc.org/articles/PMC6387453/

المؤلفون: Carine Richou, Marion Lenoir, Eric Delabrousse, Frédéric Grenouillet, Solange Bresson-Hadni, Sarah Beaussant-Cohen

المساهمون: Centre Hospitalier Régional Universitaire de Besançon (CHRU Besançon), Laboratoire Chrono-environnement - CNRS - UBFC (UMR 6249) (LCE), Centre National de la Recherche Scientifique (CNRS)-Université de Franche-Comté (UFC), Université Bourgogne Franche-Comté [COMUE] (UBFC)-Université Bourgogne Franche-Comté [COMUE] (UBFC), Nanomédecine Lab EA4662 (Nanomedecine)

المصدر: Diagnostic and Interventional Imaging
Diagnostic and Interventional Imaging, Elsevier, 2018, 99 (7-8), pp.511-512. ⟨10.1016/j.diii.2018.02.009⟩

مصطلحات موضوعية: Pathology, medicine.medical_specialty, [SDV.IB.IMA]Life Sciences [q-bio]/Bioengineering/Imaging, Alveolar echinococcosis, 030218 nuclear medicine & medical imaging, Peritoneal cavity, 03 medical and health sciences, 0302 clinical medicine, Peritoneum, [SDV.MHEP.MI]Life Sciences [q-bio]/Human health and pathology/Infectious diseases, Medicine, Radiology, Nuclear Medicine and imaging, [SDV.MP.PAR]Life Sciences [q-bio]/Microbiology and Parasitology/Parasitology, Magnetic resonance imaging (MRI), ComputingMilieux_MISCELLANEOUS, Radiological and Ultrasound Technology, medicine.diagnostic_test, business.industry, Magnetic resonance imaging, General Medicine, Mr imaging, Peritoneal disease, medicine.anatomical_structure, 030211 gastroenterology & hepatology, Peritoneal diseases, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cc65974d4e2b0934a956fa60c2c8537f
https://hal.archives-ouvertes.fr/hal-02195707

المؤلفون: Ali Dalloul, Yves Bertrand, Christine Bellanné-Chantelot, Julie Nguyen, Françoise Bachelerie, Sarah Beaussant-Cohen, Jean Donadieu, Marie-Laure Aknin, Fawzia Louache, Monika Wittner, Vincent Biajoux, Marion Espéli, Karl Balabanian, Françoise Gaudin, Vincent Rondeau, Christelle Freitas

المساهمون: Cytokines, chimiokines et immunopathologie, Université Paris-Sud - Paris 11 (UP11)-Institut National de la Santé et de la Recherche Médicale (INSERM), Hématopoïèse normale et pathologique (U1170 Inserm), Université Paris-Sud - Paris 11 (UP11)-Institut Gustave Roussy (IGR)-Institut National de la Santé et de la Recherche Médicale (INSERM), Inflammation, chimiokines et immunopathologie, Institut Paris-Saclay d’Innovation Thérapeutique (IPSIT), Centre Hospitalier Régional Universitaire [Besançon] (CHRU Besançon), Hématologie et immunologie pédiatrique, Hospices Civils de Lyon (HCL)-CHU Lyon-Institut d'hématologie et d'oncologie pédiatrique [CHU - HCL] (IHOPe), Hospices Civils de Lyon (HCL)-Hôpital Femme-Mère-Enfant (HFME), Service de Génétique Cytogénétique et Embryologie [CHU Pitié-Salpêtrière], Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-CHU Pitié-Salpêtrière [APHP], Service d'Hématologie et Oncologie pédiatriques, Hôpital Trousseau [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-CHU Trousseau [APHP], Institut Gustave Roussy (IGR), Institut Paris Saclay d’Innovation Thérapeutique (IPSIT), Université Paris-Sud - Paris 11 (UP11)-Institut de Chimie du CNRS (INC)-Centre National de la Recherche Scientifique (CNRS), Centre Hospitalier Régional Universitaire de Besançon (CHRU Besançon), CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Service d'hématologie-immunologie-oncologie pédiatrique [CHU Trousseau], CHU Trousseau [APHP], Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris-Sud - Paris 11 (UP11), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris-Sud - Paris 11 (UP11)-Institut Gustave Roussy (IGR), Service d’Hémato-Oncologie Pédiatrique, Centre Hospitalier Régional Universitaire de Besançon (CHRU Besançon)-Université de Franche-Comté (UFC), Université Bourgogne Franche-Comté [COMUE] (UBFC)-Université Bourgogne Franche-Comté [COMUE] (UBFC), Hospices Civils de Lyon (HCL), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon, Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Registre français des neutropénies chroniques sévères, Centre de référence des déficits Immunitaires Héréditaires, Université Pierre et Marie Curie - Paris 6 (UPMC)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU), Balabanian, Karl, Université de Franche-Comté (UFC), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)

المصدر: Journal of Experimental Medicine
Journal of Experimental Medicine, Rockefeller University Press, 2017, 214 (7), pp.2023-2040. ⟨10.1084/jem.20160806⟩
The Journal of Experimental Medicine
Journal of Experimental Medicine, Rockefeller University Press, 2017, Epub ahead of print. ⟨10.1084/jem.20160806⟩
Journal of Experimental Medicine, 2017, Epub ahead of print. ⟨10.1084/jem.20160806⟩

مصطلحات موضوعية: [SDV.MHEP.HEM] Life Sciences [q-bio]/Human health and pathology/Hematology, 0301 basic medicine, medicine.medical_treatment, Cellular differentiation, [SDV]Life Sciences [q-bio], Gene Expression, [SDV.BC.BC]Life Sciences [q-bio]/Cellular Biology/Subcellular Processes [q-bio.SC], CXCR4, 0302 clinical medicine, Homologous desensitization, Immunology and Allergy, Lymphocytes, Child, Research Articles, ComputingMilieux_MISCELLANEOUS, Bone Marrow Transplantation, Desensitization (medicine), Reverse Transcriptase Polymerase Chain Reaction, [SDV.MHEP.HEM]Life Sciences [q-bio]/Human health and pathology/Hematology, Cell Differentiation, Flow Cytometry, 3. Good health, Cell biology, Haematopoiesis, medicine.anatomical_structure, 030220 oncology & carcinogenesis, Warts, Stem cell, Signal Transduction, Adult, Receptors, CXCR4, Cell Survival, Primary Immunodeficiency Diseases, Immunology, Bone Marrow Cells, Mice, Transgenic, Biology, Article, 03 medical and health sciences, medicine, Animals, Humans, Lymphocyte Count, Progenitor cell, Immunologic Deficiency Syndromes, Hematopoietic Stem Cells, 030104 developmental biology, Mutation, Bone marrow, Spleen

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f0a0229466b5aec1c46d276f8b8ddc47
https://hal.archives-ouvertes.fr/hal-02380449

المؤلفون: Beverly A. Teicher, Narimanne El-Zein, E. Lynne Kelley, Kathryn Evans, Connor D. Jones, Richard B. Lock, Malcolm A. Smith, Sarah Beaussant-Cohen, Stephen W. Erickson

المصدر: Molecular Cancer Therapeutics. 18:C004-C004

مصطلحات موضوعية: Cancer Research, Vincristine, CXCR4 Inhibitor, business.industry, medicine.disease, CXCR4, Metastasis, Leukemia, Oncology, In vivo, Cancer stem cell, Tumor progression, medicine, Cancer research, business, medicine.drug

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::b7f77f0408b99a9465f30b7e0e2ab476
https://doi.org/10.1158/1535-7163.targ-19-c004

المؤلفون: Jacqueline G. Wallace, Jennifer Jones, Sabrina Weeks, Sarah Beaussant-Cohen, Janet Chou, Michel J. Massaad, Waleed Al-Herz, Raif S. Geha, Mohammed F. Alosaimi, Faris Jaber

المصدر: Journal of Allergy and Clinical Immunology. 144:606-608.e4

مصطلحات موضوعية: 0301 basic medicine, Salmonella, animal structures, 030102 biochemistry & molecular biology, biology, business.industry, Immunology, Congenital cytomegalovirus infection, Cryptosporidium, medicine.disease, biology.organism_classification, medicine.disease_cause, Virology, Protein expression, Mycobacterium tuberculosis, 03 medical and health sciences, 030104 developmental biology, embryonic structures, Mutation (genetic algorithm), medicine, Immunology and Allergy, REL, business, Immunodeficiency

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::ba3387666d1eb0ff6c498748436d9452
https://doi.org/10.1016/j.jaci.2019.05.003

المؤلفون: Sylvain P Chantepie, Despina Moshous, Norbert IFRAH, Didier Bouscary, Nicolas Cagnard, Catherine Paillard, Raphael Borie, Marlene Rio, Mohamad Mohty, HERVE CHAMBOST, Jean-Marie Michot, Nizar MAHLAOUI, Philippe Moreau, Eric Jeziorski, Sarah BEAUSSANT COHEN, Eric DECONINCK, Nicolas Schleinitz, Louis Terriou, Aurore Perrot, Mathilde Hunault, Elizabeth Anne Macintyre-Davi, Jean-Francois Schved, Olivier Hermine, Jean-francois BRASME, Guillaume LEFEVRE, Pierre S Rohrlich

المساهمون: Hôpital Saint-Louis, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris Diderot - Paris 7 (UPD7), CHU Pontchaillou [Rennes], Centre d'Investigation Clinique [Rennes] (CIC), Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Hôpital Pontchaillou-Institut National de la Santé et de la Recherche Médicale (INSERM), CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Imagine - Institut des maladies génétiques (IMAGINE - U1163), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service d'Immunopathologie [Hôpital Saint-Louis, Paris], Université Paris Diderot - Paris 7 (UPD7)-Hopital Saint-Louis [AP-HP] (AP-HP), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Service d'hématologie greffe [Saint-Louis], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris Diderot - Paris 7 (UPD7)-Groupe Hospitalier Saint Louis - Lariboisière - Fernand Widal [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), CHU Necker - Enfants Malades [AP-HP], Université Pierre et Marie Curie - Paris 6 (UPMC), Centre de référence des microangiopathies thrombotiques [CHU Saint-Antoine] (Cnr-mat), Service d'hématologie clinique et de thérapie cellulaire [CHU Saint-Antoine], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Saint-Antoine [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Saint-Antoine [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU), CHU Saint-Antoine [AP-HP], Service de médecine interne [Mondor], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Henri Mondor-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), Service d'hématologie clinique, Département d'Immunologie Clinique, Hopital Saint-Louis [AP-HP] (AP-HP), Centre hospitalier universitaire de Nantes (CHU Nantes), Hématopoïèse normale et pathologique, Université Paris-Sud - Paris 11 (UP11)-Institut Gustave Roussy (IGR)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service d'hématologie [Hôpital Edouard Herriot - HCL], Hôpital Edouard Herriot [CHU - HCL], Hospices Civils de Lyon (HCL)-Hospices Civils de Lyon (HCL), Laboratoire d'Immunologie, Service de Génétique Cytogénétique et Embryologie [CHU Pitié-Salpêtrière], CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Registre français des neutropénies chroniques sévères, Assistance publique - Hôpitaux de Paris (AP-HP)-Université Paris Diderot - Paris 7 ( UPD7 ), Centre d'Investigation Clinique [Rennes] ( CIC ), Université de Rennes 1 ( UR1 ), Université de Rennes ( UNIV-RENNES ) -Université de Rennes ( UNIV-RENNES ) -Hôpital Pontchaillou-Institut National de la Santé et de la Recherche Médicale ( INSERM ), Imagine - Institut des maladies génétiques ( IMAGINE - U1163 ), Université Paris Descartes - Paris 5 ( UPD5 ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Centre National de la Recherche Scientifique ( CNRS ), Université Paris Diderot - Paris 7 ( UPD7 ) -CHU Saint Louis [APHP], Assistance publique - Hôpitaux de Paris (AP-HP)-Université Paris Diderot - Paris 7 ( UPD7 ) -Groupe Hospitalier Saint Louis - Lariboisière - Fernand Widal [Paris], Université Pierre et Marie Curie - Paris 6 ( UPMC ), Centre de référence des microangiopathies thrombotiques Paris, Service d'hématologie, CHU Saint-Antoine [APHP], Assistance publique - Hôpitaux de Paris (AP-HP)-Hôpital Henri Mondor-Université Paris-Est Créteil Val-de-Marne - Paris 12 ( UPEC UP12 ), AP-HP Groupe Hospitalier Saint-Louis, Centre hospitalier universitaire de Nantes ( CHU Nantes ), Assistance publique - Hôpitaux de Paris (AP-HP)-CHU Saint-Antoine [APHP], Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Institut Gustave Roussy ( IGR ) -Université Paris-Sud - Paris 11 ( UP11 ), Hospices Civils de Lyon ( HCL ) -Hospices Civils de Lyon ( HCL ), Assistance publique - Hôpitaux de Paris (AP-HP)-CHU Pitié-Salpêtrière [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Saint-Antoine [AP-HP], Université de Rennes (UR)-Hôpital Pontchaillou-Institut National de la Santé et de la Recherche Médicale (INSERM), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris Diderot - Paris 7 (UPD7), Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut Gustave Roussy (IGR)-Université Paris-Sud - Paris 11 (UP11)

المصدر: Blood
Blood, 2015, 126 (14), pp.1643--1650. ⟨10.1182/blood-2015-03-634493⟩
Blood, American Society of Hematology, 2015, 126 (14), pp.1643--1650. 〈10.1182/blood-2015-03-634493〉
Blood, American Society of Hematology, 2015, 126 (14), pp.1643--1650. ⟨10.1182/blood-2015-03-634493⟩

مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Neutropenia, [SDV]Life Sciences [q-bio], Immunology, Clone (cell biology), Granulocyte, Biochemistry, Internal medicine, Granulocyte Colony-Stimulating Factor, medicine, Humans, Congenital Neutropenia, Autoantibodies, [ SDV ] Life Sciences [q-bio], business.industry, Autoantibody, Cell Biology, Hematology, medicine.disease, 3. Good health, Surgery, Granulocyte colony-stimulating factor, medicine.anatomical_structure, Absolute neutrophil count, Female, business, Primary neutropenia, Immunosuppressive Agents

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a30a8fb06c6b02d6ae11e9bd9eed8ae2
https://hal-univ-rennes1.archives-ouvertes.fr/hal-01255845

المؤلفون: Pierre-Simon Rohrlich, Sarah Beaussant-Cohen, Joséphine Moreau, Eve Puzenat, François Aubin

المصدر: Europe PubMed Central

مصطلحات موضوعية: Male, medicine.medical_specialty, business.industry, Hematopoietic Stem Cell Transplantation, Syndrome, Dermatology, General Medicine, Diagnosis, Differential, 030207 dermatology & venereal diseases, 03 medical and health sciences, 0302 clinical medicine, Text mining, DOCK8 Mutation, 030220 oncology & carcinogenesis, Mutation, Guanine Nucleotide Exchange Factors, Humans, Medicine, Child, business, Job Syndrome

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ae203b20582ff9ad304849fdb85219fd
https://doi.org/10.2340/00015555-2288

المؤلفون: Philippe Bensaid, Gerard Daltroff, Gilles Devouassoux, Emmanuel Plouvier, Odile Fenneteau, Jean-François Nicolas, Yves Bertrand, Sarah Beaussant Cohen, Pierre Bordigoni, Fanny Fouyssac, Delphine Kerob, Jean Donadieu, Anne-Lise Delezoide, Françoise Bachelerie, Alain Dupuy, Blandine Beaupain, Pierre-Simon Rohrlich, Christine bellanne Chantelot, Karl Balabanian, Isabelle Plantier

المساهمون: CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Service d'Hématologie et Oncologie pédiatrique [CHRU Besançon], Centre Hospitalier Régional Universitaire de Besançon (CHRU Besançon), Service d'Hématologie Pédiatrique, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Robert Debré, Service de Pédiatrie, CH Belfort-Montbéliard, Service d'hématologie, Centre Hospitalier de Roubaix, Service de Dermatologie [Rennes] = Dermatology [Rennes], CHU Pontchaillou [Rennes], Service de Dermatologie [Saint-Louis], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Groupe Hospitalier Saint Louis - Lariboisière - Fernand Widal [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Service de Médecine Infantile II [CHRU Nancy], Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy), Service de Biologie du Développement, Service de Pneumologie, Centre Hospitalier Lyon Sud [CHU - HCL] (CHLS), Hospices Civils de Lyon (HCL)-Hospices Civils de Lyon (HCL), Service d'immunologie clinique et allergologie, Hématologie et immunologie pédiatrique, Hospices Civils de Lyon (HCL)-CHU Lyon-Institut d'hématologie et d'oncologie pédiatrique [CHU - HCL] (IHOPe), Hospices Civils de Lyon (HCL)-Hôpital Femme-Mère-Enfant (HFME), Cytokines, chimiokines et immunopathologie, Université Paris-Sud - Paris 11 (UP11)-Institut National de la Santé et de la Recherche Médicale (INSERM), CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), The French registry is supported by grants from Amgen SAS, Chugai SA, GIS Maladies Rares, Institut de Veille Sanitaire and Inserm. This research is a study from the Centre de Référence des Déficits Immunitaires Héréditaires (CEREDIH: the French National Reference Center for Primary Immune Deficiencies, www.ceredih.fr) and has been supported by the Société Française d'Hématologie et d'Immunologie Pédiatrique. The K.B. laboratory is supported by the Agence Nationale de la Recherche, the Université Paris-Sud and Inserm, FB was supported by the ANR, AP-HP and E-rare (07 E-RARE 013-01), and K.B. and F.B. are members of the Laboratory of Excellence LERMIT supported by a grant from ANR (Investissements d'Avenir)., BMC, Ed.

المصدر: Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, BioMed Central, 2012, 7 (1), pp.71. ⟨10.1186/1750-1172-7-71⟩
Orphanet Journal of Rare Diseases, Vol 7, Iss 1, p 71 (2012)

مصطلحات موضوعية: Male, Pediatrics, WHIM, lcsh:Medicine, Monocytopenia, [SDV.GEN] Life Sciences [q-bio]/Genetics, Genital warts, Hypogammaglobulinemia, 0302 clinical medicine, Genetics(clinical), Pharmacology (medical), Registries, Child, Genetics (clinical), Medicine(all), 0303 health sciences, Bacterial Infections, General Medicine, Myelokathexis, Anti-Bacterial Agents, Pedigree, 3. Good health, Child, Preschool, Female, Warts, WHIM syndrome, Adult, Receptors, CXCR4, medicine.medical_specialty, Registry, Neutropenia, Adolescent, Primary Immunodeficiency Diseases, Infections, Young Adult, 03 medical and health sciences, medicine, Humans, Congenital Neutropenia, 030304 developmental biology, CXCR4, [SDV.GEN]Life Sciences [q-bio]/Genetics, business.industry, Research, lcsh:R, Immunologic Deficiency Syndromes, Infant, medicine.disease, Immunology, Skin cancer, business, 030215 immunology

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a448106a5b2e694aeb2138a9cf4d4117
https://www.hal.inserm.fr/inserm-00796145/document

المؤلفون: Sarah Beaussant Cohen, Odile Fenneteau, Emmanuel Plouvier, Pierre-simon Rohrlich, Gerard Daltroff, Isabelle Plantier, Alain Dupuy, Delphine Kerob, Ine Beaupain, Pierre Bordigoni, Fanny Fouyssac

المساهمون: The Pennsylvania State University CiteSeerX Archives

المصدر: http://hal.archives-ouvertes.fr/docs/00/79/61/45/PDF/1750-1172-7-71.pdf.

وصف الملف: application/pdf

Relation: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.400.4880; http://hal.archives-ouvertes.fr/docs/00/79/61/45/PDF/1750-1172-7-71.pdf

الاتاحة: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.400.4880
http://hal.archives-ouvertes.fr/docs/00/79/61/45/PDF/1750-1172-7-71.pdf