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1Academic Journal
المؤلفون: Shiva Saghafi, Fariborz Zandieh, Mohammad Reza Fazlollahi, Cristina Glocker, Natalie Frede, Mary Buchta, Linlin Yang, Amir Hossein Mahmoudi, Massoud Houshmand, Zahra Pourpak, Bodo Grimbacher, Mostafa Moin
المصدر: Iranian Journal of Allergy, Asthma and Immunology, Vol 21, Iss 3 (2022)
مصطلحات موضوعية: Cytomegalovirus, DOCK8 protein, human, Hyperimmunoglobulin E syndrome, Retinitis, Medicine
وصف الملف: electronic resource
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2Academic Journal
المؤلفون: Marian-Christopher Pott, Natalie Frede, Jennifer Wanders, Lennart Hammarström, Erik-Oliver Glocker, Cristina Glocker, Fariba Tahami, Bodo Grimbacher
المصدر: BMC Immunology, Vol 18, Iss 1, Pp 1-8 (2017)
مصطلحات موضوعية: Autoimmunity, Autoantibodies, Cytokines, Primary antibody deficiency, Common variable immunodeficiency, Selective IgA deficiency, Immunologic diseases. Allergy, RC581-607
وصف الملف: electronic resource
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3Academic Journal
المؤلفون: Shiva Saghafi, Zahra Pourpak, Cristina Glocker, Franziska Nussbaumer, Abdolreza Babamahmoodi, Bodo Grimbacher, Mostafa Moin
المصدر: Iranian Journal of Allergy, Asthma and Immunology, Vol 14, Iss 2 (2015)
مصطلحات موضوعية: Diagnosis, Hyperimmunoglobulin E Syndrome, Management, Project, Medicine
وصف الملف: electronic resource
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4
المؤلفون: Jelena Plačkić, Petra Eder-Negrin, Fabian Riediger, Monique Jänsch, Jens Kockskämper, Lea K. Seidlmayer, Melanie Mühlfelder, Jeffery D. Molkentin, Jörn Strasen, Peter Nordbeck, Stefan Engelhardt, Silvana Olivares-Florez, Tatjana Williams, Cristina Glocker, Paula Anahi Arias-Loza, Katrin G. Heinze, Martin Czolbe, Oliver Ritter
المصدر: Journal of Molecular Medicine. 96:1239-1249
مصطلحات موضوعية: 0301 basic medicine, 030102 biochemistry & molecular biology, Chemistry, Lipid microdomain, Stimulation, NFAT, Cell biology, Calcineurin, 03 medical and health sciences, Cytosol, 030104 developmental biology, medicine.anatomical_structure, Drug Discovery, cardiovascular system, medicine, Molecular Medicine, Myocyte, Nucleus, Genetics (clinical), Intracellular
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المؤلفون: Zahra Pourpak, Mostafa Moin, Massoud Houshmand, Mohammad Nabavi, Mohammad Hassan Bemanian, Bodo Grimbacher, Nima Parvaneh, Amir Ali Hamidieh, Mohammad Reza Fazlollahi, Cristina Glocker, Shiva Saghafi, Franziska Nussbaumer
المصدر: Clinical Case Reports
مصطلحات موضوعية: 0301 basic medicine, Allergy, Case Report, Consanguinity, Case Reports, Immunoglobulin E, 03 medical and health sciences, 0302 clinical medicine, Medicine, Eosinophilia, Respiratory system, Immunodeficiency, hyper IgE syndrome, biology, business.industry, autosomal recessive, General Medicine, medicine.disease, DOCK8, 030104 developmental biology, Immunology, biology.protein, Dock8, medicine.symptom, business, DOCK8 Deficiency, 030215 immunology
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المؤلفون: Sandra Winzer, Linlin Yang, Karin R. Engelhardt, Michele Proietti, Magdalena L. Wehmeyer, Julia M. Hartberger, Alla Bulashevska, Bodo Grimbacher, Amos Etzioni, Niko Langer, Alejandro A. Schäffer, Bernhard Fleckenstein, Philipp Fröbel, Cristina Glocker, Sara Sebnem Kilic, Anne Puel, Dietmar Pfeifer, Johanna Charlotte Neubauer, Claudia Bossen, Irina Lagovsky, Adi Klein, Jessica Rojas-Restrepo, Vivien Béziat, Idit Lachover-Roth, Manfred Fliegauf, Stefanie Frey-Jakobs, Christina Nöltner, Jean-Laurent Casanova, Stephan Weidinger, Ben-Zion Garty
مصطلحات موضوعية: 0301 basic medicine, Adult, Male, STAT3 Transcription Factor, Adolescent, Immunology, Nonsense mutation, Genes, Recessive, Biology, Article, 03 medical and health sciences, Consanguinity, Young Adult, medicine, T helper 17 cell, Humans, STAT3, Child, Promoter Regions, Genetic, Immunodeficiency, Zinc finger transcription factor, Cell Nucleus, Infant, Cell Differentiation, Zinc Fingers, General Medicine, Exons, Immunoglobulin E, medicine.disease, Phenotype, Pedigree, 030104 developmental biology, Codon, Nonsense, biology.protein, STAT protein, Th17 Cells, Female, Immunocompetence, Job Syndrome, Transcription Factors
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7
المؤلفون: Silvana, Olivares-Florez, Martin, Czolbe, Fabian, Riediger, Lea, Seidlmayer, Tatjana, Williams, Peter, Nordbeck, Jörn, Strasen, Cristina, Glocker, Monique, Jänsch, Petra, Eder-Negrin, Paula, Arias-Loza, Melanie, Mühlfelder, Jelena, Plačkić, Katrin G, Heinze, Jeffery D, Molkentin, Stefan, Engelhardt, Jens, Kockskämper, Oliver, Ritter
المصدر: Journal of molecular medicine (Berlin, Germany). 96(11)
مصطلحات موضوعية: Mice, Inbred C57BL, Nuclear Envelope, Angiotensin II, Calcineurin, Animals, Inositol 1,4,5-Trisphosphate Receptors, Calcium, Myocytes, Cardiac, Rats, Wistar, Myocardial Contraction
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8
المؤلفون: Marian-Christopher Pott, Natalie Frede, Jennifer Wanders, Lennart Hammarström, Erik-Oliver Glocker, Cristina Glocker, Fariba Tahami, Bodo Grimbacher
المصدر: BMC Immunology
BMC Immunology, Vol 18, Iss 1, Pp 1-8 (2017)مصطلحات موضوعية: lcsh:Immunologic diseases. Allergy, STAT3 Transcription Factor, Cell Survival, Interleukins, Tumor Necrosis Factor Ligand Superfamily Member 13, B-Lymphocyte Subsets, IgA Deficiency, Immunologic Deficiency Syndromes, Autoimmunity, Common variable immunodeficiency, B-Cell Activating Factor, Selective IgA deficiency, IL-21, Humans, Cytokines, BAFF, APRIL, Phosphorylation, lcsh:RC581-607, Primary antibody deficiency, Autoantibodies, Research Article
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المؤلفون: Stephan Borte, Rainer Doffinger, Richard K Russell, Bodo Grimbacher, Paul Henderson, Reinhold E. Schmidt, David Hagin, Dinakantha S. Kumararatne, Robin Kobbe, Gregor Dückers, Lisa Devlin, Jan Raabe, Milos Jesenak, Sebastian Fuchs, Leen Moens, Natalie Frede, Magda Carneiro-Sampaio, Cristina Glocker, Suranjith L. Seneviratne, Hans J. Stauss, Isabelle Meyts, Ulrich Baumann, Dowain A. Wright, Christine McCusker, T. Prescott Atkinson, Troy R. Torgerson, M Depner, J Wanders, José Luis Franco, Michael Borte, Anne-Bine Skytte, Tim Niehues, J. David M. Edgar, Cristina Miuki Abe Jacob, Asbjørg Stray-Pedersen, Harry W. Schroeder, Effrossyni Gkrania-Klotsas, Moshe Ben-Shoshan, Julio César Orrego
المصدر: Journal of Clinical Immunology
Depner, M, Fuchs, S, Raabe, J, Frede, N, Glocker, C, Doffinger, R, Gkrania-Klotsas, E, Kumararatne, D, Atkinson, T P, Schroeder, H W, Niehues, T, Dückers, G, Stray-Pedersen, A, Baumann, U, Schmidt, R, Franco, J L, Orrego, J, Ben-Shoshan, M, McCusker, C, Jacob, C M A, Carneiro-Sampaio, M, Devlin, L A, Edgar, J D M, Henderson, P, Russell, R K, Skytte, A-B, Seneviratne, S L, Wanders, J, Stauss, H, Meyts, I, Moens, L, Jesenak, M, Kobbe, R, Borte, S, Borte, M, Wright, D A, Hagin, D, Torgerson, T R & Grimbacher, B 2016, ' The Extended Clinical Phenotype of 26 Patients with Chronic Mucocutaneous Candidiasis due to Gain-of-Function Mutations in STAT1 ', Journal of clinical & cellular immunology, vol. 36, no. 1, pp. 73-84 . https://doi.org/10.1007/s10875-015-0214-9
Depner, M, Fuchs, S, Raabe, J, Frede, N, Glocker, C, Doffinger, R, Gkrania-Klotsas, E, Kumararatne, D, Atkinson, T P, Schroeder, H W, Niehues, T, Dückers, G, Stray-Pedersen, A, Baumann, U, Schmidt, R, Franco, J L, Orrego, J, Ben-Shoshan, M, McCusker, C, Jacob, C M A, Carneiro-Sampaio, M, Devlin, L A, Edgar, J D M, Henderson, P, Russell, R K, Skytte, A-B, Seneviratne, S L, Wanders, J, Stauss, H, Meyts, I, Moens, L, Jesenak, M, Kobbe, R, Borte, S, Borte, M, Wright, D A, Hagin, D, Torgerson, T R & Grimbacher, B 2016, ' The Extended Clinical Phenotype of 26 Patients with Chronic Mucocutaneous Candidiasis due to Gain-of-Function Mutations in STAT1 ', Journal of Clinical Immunology, vol. 36, no. 1, pp. 73-84 . https://doi.org/10.1007/s10875-015-0214-9مصطلحات موضوعية: 0301 basic medicine, Adult, Male, Immunology, DNA Mutational Analysis, medicine.disease_cause, primary immunodeficiency, 03 medical and health sciences, Chronic mucocutaneous candidiasis, GOF, STAT1, CMC, Medicine, Immunology and Allergy, Humans, Recurrent candida infections, Immunodeficiency, Cells, Cultured, Original Research, Mutation, gain-of-function, biology, business.industry, phosphorylation, Candidiasis, Chronic Mucocutaneous, PID, Immunologic Deficiency Syndromes, Immune dysregulation, medicine.disease, Pedigree, Protein Structure, Tertiary, 030104 developmental biology, Phenotype, STAT1 Transcription Factor, signal transducer and activator of transcription 1, Primary immunodeficiency, biology.protein, STAT protein, Leukocytes, Mononuclear, Cytokines, Female, business
وصف الملف: Print-Electronic; application/pdf
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المؤلفون: Tim Niehues, Karin R. Engelhardt, Mehmet Kilic, Raif S. Geha, Necil Kutukculer, Zeina Baz, Sevgi Keles, Cristina Glocker, Caner Aytekin, Ozden Sanal, Ismail Reisli, Zahra Pourpak, Ferah Genel, Mustafa Yilmaz, Alison Jones, B Gaspar, Elena C. Sigmund, Nermeen Galal, Yildiz Camcioglu, Michel J. Massaad, Amos Etzioni, Turkan Patiroglu, Laura E. Graham, Maria Cristina Pietrogrande, Majed Dasouki, Andrew R. Gennery, S Weinspach, G Dueckers, Michael E. Gertz, Monia Khemiri, M. R. Barbouche, Mehdi Yeganeh, Imen Ben-Mustapha, Shiva Saghafi, Bodo Grimbacher, Salem Al-Tamemi, Andrew J. Cant, A. Sassi, Gérard Lefranc, Ayse Metin, Vassilios Lougaris, Ayper Somer, Fethi Mellouli, Ekrem Unal, Alexandra F. Freeman, Jeannette Boutros, Ruben Ceja, Jens Thiel, André Mégarbané, Sara Sebnem Kilic, Talal A. Chatila, Mohamed Bejaoui, Alejandro A. Schäffer, Ilhan Tezcan, Waleed Al-Herz, Peter D. Arkwright, Ilka Schulze
المساهمون: Çocuk Sağlığı ve Hastalıkları, University College of London [London] (UCL), National Center for Biotechnology Information (NCBI), David Geffen School of Medicine [Los Angeles], University of California [Los Angeles] (UCLA), University of California-University of California, Freiburg University Medical Center, Institute of Mechanical Systems, Department of Mechanical and Process Engineering, Eidgenössische Technische Hochschule - Swiss Federal Institute of Technology [Zürich] (ETH Zürich), Tehran University of Medical Sciences (TUMS), Laboratoire d'Immunopathologie, Vaccinologie et Génétique Moléculaire (LVGM), Institut Pasteur de Tunis, Réseau International des Instituts Pasteur (RIIP)-Réseau International des Instituts Pasteur (RIIP), Laboratory for the Study of Skeletal Disorders and Rehabilitation (Boston, USA), Harvard Combined Orthopaedic Residency (USA), Department of Peadiatric Immuno-Haematology, National Bone Marrow Transplantation, Laboratoire d'immunologie clinique [Institut Pasteur de Tunis], Pediatrics Department A, Children's Hospital of Tunis, Tunis, Tunisia, National Institute of Allergy and Infectious Diseases [Bethesda] (NIAID-NIH), National Institutes of Health [Bethesda] (NIH), Center for Chronic Immunodeficiency (CCI), University Medical Center Freiburg, Freiburg, Germany, Kuwait University, the Pediatric Immunology Unit, SB Ankara Diskapi Children’s Hospital, Ankara University School of Medicine [Turkey], Tehran University of Medical Sciences, School of public health, The University of Hong Kong (HKU)-The University of Hong Kong (HKU)-Tehran University of Medical Sciences, Helios Klinikum Krefeld - Helios Klinikum Krefeld, Center of Child and Adolescent Medicine, Heinrich-Heine-University Dusseldorf, Department of Pediatrics, Division of Pediatric Hematology and Oncology, Faculty of Medicine, Erciyes University, Kayseri, Turkey, Department of Pediatrics, Division of Pediatric Immunology, Faculty of Medicine, Erciyes University, Kayseri, Turkey, Department of Oncology, Aalborg Hospital, Aarhus University [Aarhus], Behcet Uz State Hospital Division of Pediatric Immunology, Izmir, Dis Training & Res Ctr, Department of Pediatrics, Ege University, Istanbul University, Dokuz Eylül Üniversitesi = Dokuz Eylül University [Izmir] (DEÜ), Necmettin Erbakan Univ, Cerrahpasa Medical School, Université d' Istanbul, Newcastle General Hospital, the Department of Maternal and Pediatric Sciences, University of Milan, Fondazione IRCCS Policlinico Milano, the Department of Pediatrics, St George Hospital University Medical Center, Beirut, Sultan Qaboos University (SQU), Université Montpellier 2 - Sciences et Techniques (UM2), Institut de génétique humaine (IGH), Université de Montpellier (UM)-Centre National de la Recherche Scientifique (CNRS), Institut de biologie et chimie des protéines [Lyon] (IBCP), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Centre National de la Recherche Scientifique (CNRS), Primary Immunodeficiency Clinic, Cairo University Specialized Pediatric Hospital, Pediatrics Department, Bone Marrow Transplantation Center, Tunis, Tunisia., Laboratoire de Transmission, Contrôle et Immunobiologie des Infections - Laboratory of Transmission, Control and Immunobiology of Infection (LR11IPT02), Çukurova Üniversitesi
المصدر: Journal of Allergy and Clinical Immunology: In Practice
Journal of Allergy and Clinical Immunology: In Practice, Elsevier, 2015, 136 (2), pp.402-12. ⟨10.1016/j.jaci.2014.12.1945⟩مصطلحات موضوعية: CD4-Positive T-Lymphocytes, Male, Allergy, Support Vector Machine, [SDV]Life Sciences [q-bio], medicine.medical_treatment, Hypereosinophilia, Hematopoietic stem cell transplantation, CD8-Positive T-Lymphocytes, autosomal recessive hyper-IgE syndrome, dedicator of cytokinesis 8, hyper-IgE syndrome, Molluscum contagiosum, Primary combined immunodeficiency, signal transducer and activator of transcription 3, Adolescent, Adult, Antigens, Bacterial, Antigens, Viral, Bacterial Infections, Child, Child, Preschool, Eosinophils, Female, Guanine Nucleotide Exchange Factors, Humans, Immunoglobulin E, Immunoglobulin M, Infant, Job Syndrome, Lymphocyte Count, Middle Aged, Mutation, STAT3 Transcription Factor, Skin Diseases, Survival Analysis, Virus Diseases, Phenotype, Immunology and Allergy, Immunology, 0302 clinical medicine, MESH: Child, MESH: Guanine Nucleotide Exchange Factors, Viral, Immunodeficiency, 0303 health sciences, MESH: Middle Aged, Respiratory tract infections, Progressive multifocal leukoencephalopathy, MESH: Immunoglobulin E, MESH: Support Vector Machine, Bacterial, MESH: STAT3 Transcription Factor, MESH: CD4-Positive T-Lymphocytes, MESH: Infant, MESH: CD8-Positive T-Lymphocytes, MESH: Immunoglobulin M, 3. Good health, MESH: Virus Diseases, MESH: Survival Analysis, Dock8, medicine.symptom, MESH: Antigens, Viral, MESH: Lymphocyte Count, MESH: Mutation, MESH: Bacterial Infections, MESH: Skin Diseases, Biology, MESH: Phenotype, 03 medical and health sciences, MESH: Eosinophils, medicine, Antigens, Preschool, 030304 developmental biology, MESH: Adolescent, MESH: Humans, MESH: Job Syndrome, MESH: Child, Preschool, MESH: Adult, medicine.disease, MESH: Male, DOCK8 Deficiency, MESH: Female, MESH: Antigens, Bacterial, 030215 immunology
وصف الملف: text/plain
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المؤلفون: Shiva Saghafi, Zahra Pourpak, Cristina Glocker, Franziska Nussbaumer, Abdolreza Babamahmoodi, Bodo Grimbacher, Mostafa Moin
المصدر: Iranian Journal of Allergy, Asthma and Immunology, Vol 14, Iss 2 (2015)
مصطلحات موضوعية: Hyperimmunoglobulin E Syndrome, Diagnosis, lcsh:R, Decision Trees, lcsh:Medicine, Humans, Project, Job Syndrome, Management
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