المؤلفون: Julie Bardet, Olivier Hermine, Fanny Lanternier, Nicolas Noel, Isabelle Durieu, Agathe Masseau, Olivier Lortholary, Felipe Suarez, Jacinta Bustamante, Bertrand Dunogue, Hélène Salvator, Benoit Pilmis, Marie-Anne Gougerot-Pocidalo, Stéphane Blanche, Fanny Fouyssac, Nizar Mahlaoui, Marc Lecuit, Harry Sokol, Emilie Catherinot, Vincent Barlogis, Caroline Elie, Alain Fischer, Louis-Jean Couderc, Hélène Coignard-Biehler, Karima Amazzough

المساهمون: Centre d'infectiologie Necker-Pasteur [CHU Necker], Institut Pasteur [Paris]-CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Centre de Référence Déficits Immunitaires Héréditaires (CEREDIH), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Département d'Immunologie, hématologie et rhumatologie pédiatriques [Hôpital Necker-Enfants malades - APHP], CHU Necker - Enfants Malades [AP-HP], Génétique Humaine des Maladies Infectieuses (Equipe Inserm U1163), Imagine - Institut des maladies génétiques (IMAGINE - U1163), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service d'informatique médicale et biostatistiques [CHU Necker], Université Paris Descartes - Paris 5 (UPD5), Service de pneumologie [Hôpital Foch], Hôpital Foch [Suresnes], Service de Gastroentérologie et nutrition [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), Université Pierre et Marie Curie - Paris 6 (UPMC), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service d'Hématologie et d'Oncologie Pédiatrique [CHRU Nancy], Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy), Service d'Onco-Hématologie Pédiatrique [CHU Grenoble], Centre Hospitalier Universitaire [Grenoble] (CHU), St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller University [New York], Service d'hématologie et immunologie, Université Paris Diderot - Paris 7 (UPD7)-AP-HP - Hôpital Bichat - Claude Bernard [Paris], Service de Pédiatrie et Hématologie Pédiatrique [CHU Timone, AP-HM], Hôpital de la Timone [CHU - APHM] (TIMONE), Service de médecine interne, Hôtel-Dieu-Centre hospitalier universitaire de Nantes (CHU Nantes), Service de médecine interne et de pathologie vasculaire [hôpital Lyon sud, HCL], Centre Hospitalier Lyon Sud [CHU - HCL] (CHLS), Hospices Civils de Lyon (HCL)-Hospices Civils de Lyon (HCL), Microorganismes et Barrières de l'Hôte (Equipe avenir), Institut Pasteur [Paris]-Institut National de la Santé et de la Recherche Médicale (INSERM), Service d'Hématologie Adulte, Laboratory of molecular mechanisms of hematologic disorders and therapeutic implications (ERL 8254 - Equipe Inserm U1163), Chaire Médecine expérimentale (A. Fischer), Collège de France (CdF (institution)), Service d'immuno-hématologie pédiatrique [CHU Necker], The CEREDIH is supported by the French Association of Patients with Primary Immunodeficiencies and is funded by the French Ministry of Health. It additionally received unrestricted educational grants from Behring, Baxalta, Octapharma, and the patient associations AT-Europe and Trophée Guillaume., We thank all clinicians of the French national Centre de Référence des Déficits Immunitaires Héréditaires (CEREDIH) network for their help with this study. We also thank the CEREDIH staff: Chantal Andriamanga, Carolina Brito, Laurence Costes, Virginie Courteille, and Nathalie Devergnes., Institut Pasteur [Paris] (IP)-CHU Necker - Enfants Malades [AP-HP], CHU Saint-Antoine [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Centre de Recherche Saint-Antoine (CRSA), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-AP-HP - Hôpital Bichat - Claude Bernard [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris Diderot - Paris 7 (UPD7), Service de pédiatrie, d'hématologie et d'oncologie [Hôpital de La Timone - APHM], Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE), Institut Pasteur [Paris] (IP)-Institut National de la Santé et de la Recherche Médicale (INSERM), Collège de France - Chaire Médecine expérimentale (A. Fischer), Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-CHU Necker - Enfants Malades [AP-HP], Centre National de la Recherche Scientifique (CNRS)-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 Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service de pneumologie [Hôpital Foch, Suresnes], Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-CHU Saint-Antoine [APHP], Centre National de la Recherche Scientifique (CNRS)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), St Giles laboratory of Human Genetics and Infectious Diseases, Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-AP-HP - Hôpital Bichat - Claude Bernard [Paris]-Université Paris Diderot - Paris 7 (UPD7), Equipe avenir Microorganismes et Barrières de l'Hôte, Collège de France (CdF)

المصدر: Clinical Infectious Diseases
Clinical Infectious Diseases, Oxford University Press (OUP), 2017, 64 (6), pp.767-775. ⟨10.1093/cid/ciw837⟩
Clinical Infectious Diseases, 2017, 64 (6), pp.767-775. ⟨10.1093/cid/ciw837⟩

مصطلحات موضوعية: Male, 0301 basic medicine, Pediatrics, MESH: Registries, [SDV]Life Sciences [q-bio], medicine.medical_treatment, MESH: Granulomatous Disease, Chronic/diagnosis, Autoimmunity, Hematopoietic stem cell transplantation, chronic granulomatous disease, MESH: Granulomatous Disease, Chronic/complications, Granulomatous Disease, Chronic, 0302 clinical medicine, Chronic granulomatous disease, Cost of Illness, [SDV.MHEP.MI]Life Sciences [q-bio]/Human health and pathology/Infectious diseases, MESH: Child, MESH: Bacterial Infections/etiology, MESH: Bacterial Infections/prevention & control, Registries, 030212 general & internal medicine, Child, [SDV.MP.MYC]Life Sciences [q-bio]/Microbiology and Parasitology/Mycology, High rate, MESH: France/epidemiology, MESH: Granulomatous Disease, Chronic/epidemiology, MESH: Bacterial Infections/epidemiology, MESH: Infant, Newborn, Age Factors, MESH: Mycoses/epidemiology, transition, Bacterial Infections, sequelae, MESH: Cost of Illness, MESH: Infant, Adult height, 3. Good health, Phenotype, [SDV.MP]Life Sciences [q-bio]/Microbiology and Parasitology, Infectious Diseases, Child, Preschool, Population Surveillance, MESH: Mycoses/drug therapy, MESH: Survival Analysis, [SDV.IMM]Life Sciences [q-bio]/Immunology, Female, France, Symptom Assessment, Microbiology (medical), medicine.medical_specialty, adulthood, Adolescent, MESH: Mycoses/prevention & control, primary immunodeficiency, MESH: Phenotype, MESH: Population Surveillance, 03 medical and health sciences, MESH: Cross-Sectional Studies, MESH: Antibiotic Prophylaxis, MESH: Autoimmunity, MESH: Mycoses/etiology, medicine, Humans, In patient, MESH: Bacterial Infections/drug therapy, Retrospective Studies, MESH: Adolescent, MESH: Age Factors, MESH: Humans, business.industry, MESH: Symptom Assessment, MESH: Granulomatous Disease, Chronic/mortality, MESH: Child, Preschool, Infant, Newborn, Infant, MESH: Retrospective Studies, Retrospective cohort study, Antibiotic Prophylaxis, medicine.disease, Survival Analysis, [SDV.MP.BAC]Life Sciences [q-bio]/Microbiology and Parasitology/Bacteriology, MESH: Male, Cross-Sectional Studies, 030104 developmental biology, Mycoses, Respiratory failure, Primary immunodeficiency, business, MESH: Female, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::79c1c8f0a76ad14b2544dab1bebdebd5
https://doi.org/10.1093/cid/ciw837

المؤلفون: Khaoula Ben-Farhat, Monia Khemiri, Zohra Fitouri, Sihem Barsaoui, Najla Mekki, Meriem Ben-Ali, Selim Abdelmoula, Mohamed-Neji Guediche, M. R. Barbouche, Samir Boukthir, Saber Hamami, Imen Ben-Mustapha, Amel Ben-Chehida, Jalel Chemli, Karen Rouault, Beya Larguèche

المساهمون: Université de Tunis El Manar (UTM), Laboratoire de Transmission, Contrôle et Immunobiologie des Infections - Laboratory of Transmission, Control and Immunobiology of Infection (LR11IPT02), Institut Pasteur de Tunis, Réseau International des Instituts Pasteur (RIIP)-Réseau International des Instituts Pasteur (RIIP), Faculté de Médecine de Tunis, Génétique, génomique fonctionnelle et biotechnologies (UMR 1078) (GGB), Institut Brestois Santé Agro Matière (IBSAM), Université de Brest (UBO)-Université de Brest (UBO)-EFS-Institut National de la Santé et de la Recherche Médicale (INSERM), Département pédiatrique [Hôpital Fattouma Bourguiba - Monastir], CHU Fattouma Bourguiba [Monastir] (HFB), Department of Pediatrics [Tunis], Hôpital La Rabta [Tunis], Béchir Hamza Children's Hospital, Hôpital Universitaire Sahloul (CHU Sahloul)

المصدر: Journal of Clinical Immunology
Journal of Clinical Immunology, Springer Verlag, 2016, 36 (6), pp.547-554. ⟨10.1007/s10875-016-0299-9⟩

مصطلحات موضوعية: Male, 0301 basic medicine, Neutrophils, [SDV]Life Sciences [q-bio], DNA Mutational Analysis, Granulomatous Disease, Chronic, medicine.disease_cause, Severity of Illness Index, Consanguinity, 0302 clinical medicine, Chronic granulomatous disease, MESH: Child, Immunology and Allergy, MESH: NADPH Oxidases/genetics, MESH: DNA Mutational Analysis, Child, MESH: Neutrophils/metabolism, MESH: Genetic Association Studies, Genetics, Mutation, MESH: Infant, Founder Effect, 3. Good health, Phenotype, Child, Preschool, 030220 oncology & carcinogenesis, Female, MESH: Tunisia, NCF2 gene, MESH: Alleles, MESH: Enzyme Activation, Tunisia, Immunology, Biology, MESH: Phenotype, 03 medical and health sciences, MESH: Genetic Predisposition to Disease, MESH: Severity of Illness Index, MESH: Founder Effect, medicine, Humans, Genetic Predisposition to Disease, Allele, Gene, Alleles, Genetic Association Studies, MESH: Consanguinity, MESH: Granulomatous Disease, Chronic/diagnosis, MESH: Humans, MESH: Granulomatous Disease, Chronic/genetics, MESH: Child, Preschool, Haplotype, Infant, NADPH Oxidases, MESH: Granulomatous Disease, Chronic/metabolism, MESH: Haplotypes, medicine.disease, MESH: Male, Enzyme Activation, 030104 developmental biology, Haplotypes, Genetic marker, MESH: Neutrophils/immunology, MESH: Mutation, MESH: NADPH Oxidases/metabolism, MESH: Female, Founder effect

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d93add6bc9843dc959ccce1265808deb
https://doi.org/10.1007/s10875-016-0299-9

المؤلفون: Neven, Benedicte, Perot, Philippe, Bruneau, Julie, Pasquet, Marlene, Ramirez, Marie, Diana, Jean-Sebastien, Luzi, Stephanie, Corre-Catelin, Nicole, Chardot, Christophe, Despina Moshous, Leclerc Mercier, Stephanie, Mahlaoui, Nizar, Aladjidi, Nathalie, Le Bail, Brigitte, Lecuit, Marc, Bodemer, Christine, Molina, Thierry Jo, Blanche, Stephane, Eloit, Marc

المساهمون: DIAKITE, andrée, Integrative Biology of Emerging Infectious Diseases - - IBEID2010 - ANR-10-LABX-0062 - LABX - VALID, Service d'immuno-hématologie pédiatrique [CHU Necker], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Centre de Référence Déficits Immunitaires Héréditaires (CEREDIH), Imagine - Institut des maladies génétiques (IHU) (Imagine - U1163), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), Biomics (plateforme technologique), Institut Pasteur [Paris] (IP), Découverte de Pathogènes - Pathogen Discovery, Biologie des Infections - Biology of Infection, Institut Pasteur [Paris] (IP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut Pasteur [Paris] (IP)-Institut National de la Santé et de la Recherche Médicale (INSERM), Département de Pathologie [CHU Necker], Université Paris Descartes - Paris 5 (UPD5)-Université Sorbonne Paris Cité (USPC)-CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Sercice Hématologie, immunologie et oncologie pédiatrique [CHU Toulouse], Pôle Enfants [CHU Toulouse], Centre Hospitalier Universitaire de Toulouse (CHU Toulouse)-Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Institut Universitaire du Cancer de Toulouse - Oncopole (IUCT Oncopole - UMR 1037), Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Centre Hospitalier Universitaire de Toulouse (CHU Toulouse)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service de radiologie [CHU Necker], Investigation Clinique et d’Accès aux Ressources Biologiques (Plate-forme) - Clinical Investigation and Access to BioResources (ICAReB), Service de Chirurgie Viscérale Pédiatrique [Hôpital Necker-Enfants malades - APHP], Service de dermatologie [CHU Necker], Hématologie et cancérologie pédiatrique [CHU Bordeaux], CHU de Bordeaux Pellegrin [Bordeaux]-Centre d’Investigation Clinique de Bordeaux (CIC 1401)- Centre de Référence National des Cytopénies Auto-immunes de l'Enfant (CEREVANCE), CIC Bordeaux, Université Bordeaux Segalen - Bordeaux 2-Institut National de la Santé et de la Recherche Médicale (INSERM), Laboratoire d'anatomie pathologique, CHU Bordeaux [Bordeaux]-Groupe hospitalier Pellegrin, Université Paris Descartes - Paris 5 (UPD5), CHU Necker - Enfants Malades [AP-HP], Service des Maladies infectieuses et tropicales [CHU Necker], Institut Pasteur [Paris] (IP)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service de pathologie [CHU Necker], This work was supported by the Laboratoire d'Excellence 'Integrative Biology of Emerging Infectious Diseases' program (grant ANR-10-LABX-62-IBEID)., We acknowledge the patients and their families. We thank the staff of Investigation Clinique et Accès aux Ressources Biologiques (Institut Pasteur) for the management of clinical samples, Sarah Temmam for her guidance on phylogeny, and Christine Labreze and Franck Boralevi for taking care of patient 9. We also acknowledge Clinical Infectious Diseases for publishing our work under DOI: 10.1093/cid/ciw675, ANR-10-LABX-0062,IBEID,Integrative Biology of Emerging Infectious Diseases(2010), Imagine - Institut des maladies génétiques (IMAGINE - U1163), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Institut Pasteur [Paris]-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut Pasteur [Paris]-Institut National de la Santé et de la Recherche Médicale (INSERM), Institut Pasteur [Paris], Pédiatrie - Hématologie, immunologie et oncologie [CHU Toulouse], Hôpital des Enfants, CHU Toulouse [Toulouse]-CHU Toulouse [Toulouse], Institut Pasteur [Paris]-Institut National de la Santé et de la Recherche Médicale (INSERM), We acknowledge the patients and their families. We thank the staff of Investigation Clinique et Accès aux Ressources Biologiques (Institut Pasteur) for the management of clinical samples, Sarah Temmam for her guidance on phylogeny, and Christine Labreze and Franck Boralevi for taking care of patient 9., Université de Toulouse (UT)-Université de Toulouse (UT)-Centre Hospitalier Universitaire de Toulouse (CHU Toulouse)-Institut National de la Santé et de la Recherche Médicale (INSERM)

المصدر: ResearcherID
Clinical Infectious Diseases
Clinical Infectious Diseases, 2016, 64 (1), pp.83-86. ⟨10.1093/cid/ciw675⟩
Clinical Infectious Diseases, Oxford University Press (OUP), 2016, 64 (1), pp.83-86. ⟨10.1093/cid/ciw675⟩

مصطلحات موضوعية: skin, MESH: Mutation, [SDV.IMM] Life Sciences [q-bio]/Immunology, [SDV]Life Sciences [q-bio], MESH: Skin/virology, MESH: Immunologic Deficiency Syndromes/complications, MESH: Immunologic Deficiency Syndromes/diagnosis, MESH: Spleen/virology, MESH: Capsid Proteins/genetics, MESH: Biopsy, [SDV.MHEP.MI]Life Sciences [q-bio]/Human health and pathology/Infectious diseases, vaccine, MESH: Reverse Transcriptase Polymerase Chain Reaction, MESH: Child, MESH: Granulomatous Disease, Chronic/etiology, granuloma, [SDV.MP] Life Sciences [q-bio]/Microbiology and Parasitology, [SDV.MP.VIR] Life Sciences [q-bio]/Microbiology and Parasitology/Virology, MESH: Rubella Vaccine/adverse effects, MESH: Granulomatous Disease, Chronic/diagnosis, MESH: Skin/pathology, [SDV.MHEP] Life Sciences [q-bio]/Human health and pathology, MESH: Humans, rubella, MESH: Immunohistochemistry, MESH: Male, MESH: Rubella Vaccine/genetics, [SDV] Life Sciences [q-bio], [SDV.MP]Life Sciences [q-bio]/Microbiology and Parasitology, [SDV.MP.VIR]Life Sciences [q-bio]/Microbiology and Parasitology/Virology, [SDV.MHEP.MI] Life Sciences [q-bio]/Human health and pathology/Infectious diseases, [SDV.IMM]Life Sciences [q-bio]/Immunology, spleen, MESH: Homeodomain Proteins/genetics, MESH: Immunologic Deficiency Syndromes/genetics, MESH: Female, MESH: Spleen/pathology, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::ca99ecbfb52840f445add3e48e964ea3
http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcAuth=ORCID&SrcApp=OrcidOrg&DestLinkType=FullRecord&DestApp=MEDLINE&KeyUT=MEDLINE:27810866&KeyUID=MEDLINE:27810866