المؤلفون: Christine Bodemer, Kiran Belani, Alain Israël, Stéphanie Boisson-Dupuis, Fabrice Agou, Maya Chrabieh, Capucine Picard, Anne Puel, Flora Ngadjeua, Jean-Laurent Casanova, Marjorie Hubeau, Isabelle Fabre, Jacqueline Feinberg, Michel Veron, Laura Israel, Alain Fischer, Jacinta Bustamante, Laurent Abel, Alessandro Plebani

المساهمون: Génétique Humaine des Maladies Infectieuses (Inserm U980), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Biochimie Structurale et Cellulaire, Institut Pasteur [Paris]-Centre National de la Recherche Scientifique (CNRS), Children’s Minnesota Hospital [Minneapolis], Service de dermatologie [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), CHU Pointe-à-Pitre/Abymes [Guadeloupe], Università degli Studi di Brescia [Brescia], Rockefeller University [New York], CHU Necker - Enfants Malades [AP-HP], Developpement Normal et Pathologique du Système Immunitaire, Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Signalisation Moléculaire et Activation Cellulaire (SMAC), This work was supported by BNP-Paribas Foundation, Schlumberger Foundation, The Gerber Fondation, Institut Universitaire de France, the Agence Nationale de la Recherche, the EURO-PADnet HEALTH-F2-2008-201549 (A. Plebani), and The Rockefeller University Center for Clinical and Translational Science grant no. 5UL1RR024143-03, The Rockefeller University., European Project: 201549,EC:FP7:HEALTH,FP7-HEALTH-2007-A,EURO-PADNET(2008), Centre National de la Recherche Scientifique (CNRS)-Institut Pasteur [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Institut Pasteur [Paris] (IP)-Centre National de la Recherche Scientifique (CNRS), Università degli Studi di Brescia = University of Brescia (UniBs), Ribierre, Hélène, The Pathophysiology and Natural Course of Patients with Primary Antibody Deficiencies (PAD) - EURO-PADNET - - EC:FP7:HEALTH2008-05-01 - 2011-04-30 - 201549 - VALID

المصدر: Blood
Blood, American Society of Hematology, 2011, 118 (4), pp.926-935. ⟨10.1182/blood-2010-10-315234⟩
Blood, 2011, 118 (4), pp.926-935. ⟨10.1182/blood-2010-10-315234⟩

مصطلحات موضوعية: Male, MESH: Signal Transduction, Protein Folding, Ubiquitin binding, [SDV]Life Sciences [q-bio], MESH: NF-kappa B, Plasma protein binding, medicine.disease_cause, Biochemistry, 0302 clinical medicine, PRIMARY IMMUNODEFICIENCY, Ubiquitin, NEMO, IKBKG, NF-kB, skin and connective tissue diseases, 0303 health sciences, Mutation, NF-kappa B, Hematology, I-kappa B Kinase, Pedigree, 3. Good health, [SDV] Life Sciences [q-bio], MESH: Young Adult, Female, Signal transduction, NEMO, NF-kB, PRIMARY IMMUNODEFICIENCY, Polyubiquitin binding, Protein Binding, Signal Transduction, congenital, hereditary, and neonatal diseases and abnormalities, MESH: Enzyme Activation, MESH: Ubiquitin, MESH: Immunologic Deficiency Syndromes, MESH: Pedigree, MESH: Protein Folding, Blotting, Western, Immunology, Mutation, Missense, Biology, Young Adult, 03 medical and health sciences, medicine, Humans, MESH: Blotting, Western, MESH: Protein Binding, Hypohidrotic ectodermal dysplasia, MESH: I-kappa B Kinase, Immunobiology, 030304 developmental biology, MESH: Ectodermal Dysplasia 1, Anhidrotic, MESH: Mutation, Missense, Ectodermal Dysplasia 1, Anhidrotic, MESH: Humans, Immunologic Deficiency Syndromes, Cell Biology, medicine.disease, Molecular biology, MESH: Male, Enzyme Activation, biology.protein, MESH: Female, 030215 immunology

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0395308a6ef33a2dce5d962be3756eaaTest
https://hal-pasteur.archives-ouvertes.fr/pasteur-03277088Test

المؤلفون: Hubeau, Marjorie, Ngadjeua, Flora, Puel, Anne, Israel, Laura, Feinberg, Jacqueline, Chrabieh, Maya, Belani, Kiran, Bodemer, Christine, Fabre, Isabelle, Plebani, Alessandro, Boisson-Dupuis, Stéphanie, Picard, Capucine, Fischer, Alain, Israel, Alain, Abel, Laurent, Veron, Michel, Casanova, Jean-Laurent, Agou, Fabrice, Bustamante, Jacinta

المساهمون: Génétique Humaine des Maladies Infectieuses (Inserm U980), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Biochimie Structurale et Cellulaire, Institut Pasteur Paris (IP)-Centre National de la Recherche Scientifique (CNRS), Children’s Minnesota Hospital Minneapolis, Service de dermatologie CHU Necker, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Necker - Enfants Malades AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), CHU Pointe-à-Pitre / Abymes Guadeloupe, Università degli Studi di Brescia = University of Brescia (UniBs), Rockefeller University New York, Hôpital Necker - Enfants Malades AP-HP, Developpement Normal et Pathologique du Système Immunitaire, Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Signalisation Moléculaire et Activation Cellulaire (SMAC), This work was supported by BNP-Paribas Foundation, Schlumberger Foundation, The Gerber Fondation, Institut Universitaire de France, the Agence Nationale de la Recherche, the EURO-PADnet HEALTH-F2-2008-201549 (A. Plebani), and The Rockefeller University Center for Clinical and Translational Science grant no. 5UL1RR024143-03, The Rockefeller University., European Project: 201549,EC:FP7:HEALTH,FP7-HEALTH-2007-A,EURO-PADNET(2008)

المصدر: ISSN: 0006-4971.

مصطلحات موضوعية: MESH: Blotting, Western, MESH: Ectodermal Dysplasia 1, Anhidrotic, MESH: Pedigree, MESH: Protein Binding, MESH: Protein Folding, MESH: Signal Transduction, MESH: Ubiquitin, MESH: Young Adult, MESH: Enzyme Activation, MESH: Female, MESH: Humans, MESH: I-kappa B Kinase, MESH: Immunologic Deficiency Syndromes, MESH: Male, MESH: Mutation, Missense, MESH: NF-kappa B, [SDV]Life Sciences [q-bio]

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/21622647; info:eu-repo/grantAgreement/EC/FP7/201549/EU/The Pathophysiology and Natural Course of Patients with Primary Antibody Deficiencies (PAD)/EURO-PADNET; pasteur-03277088; https://pasteur.hal.science/pasteur-03277088Test; PUBMED: 21622647; PUBMEDCENTRAL: PMC3251327

الإتاحة: https://doi.org/10.1182/blood-2010-10-315234Test
https://pasteur.hal.science/pasteur-03277088Test