المؤلفون: Türkan Patıroğlu, Hatice Eke Güngör, Julie Sawalle Belohradsky, Ekrem Ünal, Christoph Klein

المصدر: Turkish Journal of Hematology, Vol 30, Iss 2, Pp 232-233 (2013)

مصطلحات موضوعية: leucocyte function disorders, myeloperoxidase, neutrophil, Diseases of the blood and blood-forming organs, RC633-647.5

العلاقة: https://jag.journalagent.com/z4/download_fulltext.asp?pdir=tjh&un=TJH-88557Test; https://doaj.org/toc/1308-5263Test; https://doaj.org/article/4e8d0e1b74bf4feda8794d21619b833bTest

الإتاحة: https://doi.org/10.4274/Tjh.2012.0012Test
https://doaj.org/article/4e8d0e1b74bf4feda8794d21619b833bTest

المؤلفون: Taco W. Kuijpers, Jörg Klepper, Roel P. Gazendam, Martin Herbst, Andreas H. Groll, Denise Reimnitz, Bernd Belohradsky, Johannes G. Liese, Paul-Gerhardt Schlegel, Julie Sawalle-Belohradsky, Bodo Grimbacher, Ellen D. Renner

المساهمون: Landsteiner Laboratory, Amsterdam institute for Infection and Immunity, Paediatric Infectious Diseases / Rheumatology / Immunology

المصدر: Pediatric infectious disease journal, 34(9), 999-1002. Lippincott Williams and Wilkins

مصطلحات موضوعية: Microbiology (medical), medicine.medical_specialty, Antifungal Agents, Turkey, CARD9 Gene, media_common.quotation_subject, Mutation, Missense, Candida albicans, medicine, Humans, Medical history, Girl, media_common, Genetics, biology, business.industry, Homozygote, Candidiasis, medicine.disease, biology.organism_classification, Dermatology, Meningitis, Fungal, CARD Signaling Adaptor Proteins, stomatognathic diseases, Treatment Outcome, Infectious Diseases, Child, Preschool, Pediatrics, Perinatology and Child Health, Mutation (genetic algorithm), Oral thrush, Drug Therapy, Combination, Female, Headaches, medicine.symptom, business, Meningitis

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1036d3b95b6d1a33ca9691731bdf401eTest
https://doi.org/10.1097/inf.0000000000000736Test

المؤلفون: M. Pinarci, Bernhard Przybilla, L. F. Schimke-Marques, A. Schlesinger, Valerie Heinz, D. Kreilinger, B. E. Halm, Bianca Schaub, Annette Boos, Julie Sawalle-Belohradsky, Beate Hagl, Ellen D. Renner, Benedikt D. Spielberger, Andreas Wollenberg, N. Ballenberger, Bernd H. Belohradsky

المصدر: Allergy. 69:943-953

مصطلحات موضوعية: Adult, Male, STAT3 Transcription Factor, medicine.medical_specialty, Allergy, DNA Mutational Analysis, Immunology, Context (language use), Immunoglobulin E, Dermatitis, Atopic, Young Adult, Food allergy, medicine, Guanine Nucleotide Exchange Factors, Humans, Immunology and Allergy, Eosinophilia, Sensitization, Skin Tests, Asthma, biology, business.industry, T-Lymphocytes, Helper-Inducer, Atopic dermatitis, Middle Aged, Flow Cytometry, medicine.disease, Dermatology, medicine.anatomical_structure, biology.protein, Female, medicine.symptom, business, Job Syndrome

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::95a5bcf3cf325c65420d85b05a6ab12eTest
https://doi.org/10.1111/all.12416Test

المؤلفون: Toubiana, Julie, Okada, Satoshi, Hiller, Julia, Oleastro, Matias, Gomez, Macarena Lagos, Becerra, Juan Carlos Aldave, Ouachãe chardin, Marie, Fouyssac, Fanny, Girisha, Katta Mohan, Etzioni, Amos, Van Montfrans, Joris, Camcioglu, Yildiz, Kerns, Leigh Ann, Belohradsky, Bernd, Blanche, Stephane, Bousfiha, Aziz, Rodriguez gallego, Carlos, Meyts, Isabelle, Kisand, Kai, Reichenbach, Janine, Renner, Ellen D. , Rosenzweig, Sergio, Grimbacher, Bodo, Van De Veerdonk, Frank L. , Traidl hoffmann, Claudia, Picard, Capucine, Marodi, Laszlo, Morio, Tomohiro, Kobayashi, Masao, Lilic, Desa, Milner, Joshua D. , Holland, Steven, Casanova, Jean Laurent, Puel, Anne, Cypowyj, Sophie, Caroline Thumerelle, Antoine Toulon, Jacinta Bustamante, Natalia Tahuil, Aicha Salhi, Sorina Boiu, Charu Chopra, Daniela Di Giovanni, Liliana Bezrodnik, JeannetteBoutros, Caroline Thomas, Gina Lacuesta, Sarah Jannier, Anne-Sophie Korganow, Catherine Paillard, David Boutboul, M ́elanie Bu ́e, Aude Marie-Cardine, Sophie Bayart, Mélanie Migaud, Laurence Weiss, Marina Karmochkine, Juan-Miguel Garcia-Martinez, Jean-Louis Stephan, Philippe Bensaid, Guy-Patrick Jeannoel, Torsten Witte, Ulrich Baumann, Thomas Harrer, Carmen Navarrete, Antony Terance Benjamin, Davide Firinu, Claudio Pignata, Paolo Picco, David Mendoza, Saul Oswaldo Lugo Reyes, Carlos Torres Lozano, MargaritaOrtega-Cisneros, Mariana Cortina, Mehrnaz Mesdaghi, MohammadNabavi, Teresa Español, Maia Teresa Martinez- Saavedra, Nima Rezaei, Samaneh Zoghi, Malgorzata Pac, Vincent Barlogis, Gabriel Revon-Rivire, Yishai Haimi-Cohen, Ronen Spiegel, Dan Miron, Jabir Bouchaib, Lizbeth Blancas-Galicia, Beata Toth, Barbara Drexel, Pierre Simon Roherlich, Olivier Lesens, Miriam Hoernes, Elizabeth Drewe, Mario Abinum, Julie Sawalle-Belohradsky, Gerhard Kindle, Mark Depner, Lili Milani, Tiit Nikopensius, Maido Remm, Ulvi Gerst Talas, Mark Tucker, Mary Willis, Stephanie Leonard, Hilaire Meuwissen, Ronald M. Ferdman, Mark Wallace, Mukesh M. Desai, Prasad Taur, Raffaele Badolato, Beata Soltesz, Christina Schnopp, Annette F. Jansson, Deniz Ayvaz, Nadejda Shabashova, Liudmyla Chernyshova, Anastasia Bondarenko, Despina Moshous, Benedicte Neven, Chahinez Boubidi, Fatima Ailal, Giuliana Giardino, Stefano Del Giacco, Marie-Elisabeth Bougnoux, Kohsuke Imai, Teppei Okawa, Yoko Mizoguchi, Yusuke Ozaki, Masato Takeuchi, Akira Hayakawa, Birgit Logering, Kristian Reich, Timo Buhl, Kilian Eyerich, Martin Schaller, Peter D. Arkwright, Andrew R. Gennery, Andrew J. Cant, Adilia Warris, Stefanie Henriet, Najla Mekki, Ridha Barbouche, Imen BenMustapha, Christine Bodemer, Michel Polak, EmmanuelGrimprel, Pierre-R ́egis Burgel, Alain Fischer, Olivier Hermine, Marianne Debr ́e, Dilara Kocacyk, Fatima Dhalla, Smita Y. Patel, Leen Moens, Filomeen Haerynck, Melissa Dullaers, Levi Hoste, Ozden Sanal, Sara Sebnem Kilic, Joachim Roesler, Fanny Lanternier, Olivier Lortholary, Claire Fieschi, Joseph A. Church, Chaim Roifman, Araya Yuenyongviwat, Part Peterson, Stéphanie Boisson-Dupuis, Laurent Abel, Beatriz E. Marciano, Mihai G. Netea

المساهمون: Toubiana, Okada, Julie, Hiller, Satoshi, Oleastro, Julia, Gomez, Matia, Becerra, Macarena Lago, Ouachãe chardin, Juan Carlos Aldave, Fouyssac, Marie, Girisha, Fanny, Etzioni, Katta Mohan, Van Montfrans, Amo, Camcioglu, Jori, Kerns, Yildiz, Belohradsky, Leigh Ann, Blanche, Bernd, Bousfiha, Stephane, Rodriguez gallego, Aziz, Meyts, Carlo, Kisand, Isabelle, Reichenbach, Kai, Renner, Janine, Rosenzweig, Ellen D., Grimbacher, Sergio, Van De Veerdonk, Bodo, Traidl hoffmann, Frank L., Picard, Claudia, Marodi, Capucine, Morio, Laszlo, Kobayashi, Tomohiro, Lilic, Masao, Milner, Desa, Holland, Joshua D., Casanova, Steven, Puel, Jean Laurent, Cypowyj, Anne, Sophie, Thumerelle, Caroline, Toulon, Antoine, Bustamante, Jacinta, Tahuil, Natalia, Salhi, Aicha, Boiu, Sorina, Chopra, Charu, Di Giovanni, Daniela, Bezrodnik, Liliana, Jeannetteboutros, Thomas, Caroline, Lacuesta, Gina, Jannier, Sarah, Korganow, Anne-Sophie, Paillard, Catherine, Boutboul, David, Bu ́e, M ́elanie, Marie-Cardine, Aude, Bayart, Sophie, Migaud, Mélanie, Weiss, Laurence, Karmochkine, Marina, Garcia-Martinez, Juan-Miguel, Stephan, Jean-Loui, Bensaid, Philippe, Jeannoel, Guy-Patrick, Witte, Torsten, Baumann, Ulrich, Harrer, Thoma, Navarrete, Carmen, Terance Benjamin, Antony, Firinu, Davide, Pignata, Claudio, Picco, Paolo, Mendoza, David, Oswaldo Lugo Reyes, Saul, Torres Lozano, Carlo, MargaritaOrtega-Cisneros, Cortina, Mariana, Mesdaghi, Mehrnaz, Mohammadnabavi, Español, Teresa, Teresa Martinez- Saavedra, Maia, Rezaei, Nima, Zoghi, Samaneh, Pac, Malgorzata, Barlogis, Vincent, Revon-Rivire, Gabriel, Haimi-Cohen, Yishai, Spiegel, Ronen, Miron, Dan, Bouchaib, Jabir, Blancas-Galicia, Lizbeth, Toth, Beata, Drexel, Barbara, Simon Roherlich, Pierre, Lesens, Olivier, Hoernes, Miriam, Drewe, Elizabeth, Abinum, Mario, Sawalle-Belohradsky, Julie, Kindle, Gerhard, Depner, Mark, Milani, Lili

مصطلحات موضوعية: Adolescent, Adult, Aged, Candidiasis, Chronic mucocutaneou, Child, preschool, Cohort studie, Female, Genetic predisposition to disease, Heterozygote, Human, Infant, Male, Middle aged, Phenotype, STAT1 transcription factor, Young adult, Genetic association studie, Mutation, Biochemistry, Immunology, Hematology, Cell biology

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/27114460; info:eu-repo/semantics/altIdentifier/wos/WOS:000378337700009; volume:127; issue:25; firstpage:3154; lastpage:3164; numberofpages:11; journal:BLOOD; http://hdl.handle.net/11584/225549Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84977482520; http://www.bloodjournal.org/content/bloodjournal/127/25/3154.full.pdfTest

الإتاحة: https://doi.org/10.1182/blood-2015-11-679902Test
http://hdl.handle.net/11584/225549Test
http://www.bloodjournal.org/content/bloodjournal/127/25/3154.full.pdfTest

المؤلفون: Carolyn Henderson, Bernd H. Belohradsky, Amy P. Hsu, Annette Boos, Anne Langenbeck, Beate Hagl, King F. Kwong, Pamela Welch, Julie Sawalle-Belohradsky, Lisa Boris, Ellen D. Renner, Steven M. Holland, Kenneth N. Olivier, Joie Davis, Alexandra F. Freeman, Beatriz E. Marciano

المصدر: Journal of Clinical Immunology. 33:896-902

مصطلحات موضوعية: Adult, Lung Diseases, Male, STAT3 Transcription Factor, medicine.medical_specialty, Adolescent, Immunology, Bronchopleural fistula, Young Adult, Parenchyma, medicine, Humans, Immunology and Allergy, Child, Lung, Retrospective Studies, Wound Healing, Bronchiectasis, business.industry, Medical record, Retrospective cohort study, Middle Aged, medicine.disease, Surgery, medicine.anatomical_structure, Child, Preschool, Mutation, Primary immunodeficiency, Female, business, Complication, Job Syndrome

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bf493785d8b3db9e6d003bac99c8995aTest
https://doi.org/10.1007/s10875-013-9890-5Test

المؤلفون: Janet Chou, Emily M. Mace, Kathleen E. Sullivan, Michael H. Albert, Linda Monaco-Shawver, Raif S. Geha, Alexandra F. Freeman, Waleed Al-Herz, William Bernal, Pinaki P. Banerjee, Valerie Heinz, Melissa C. Mizesko, Jordan S. Orange, Ellen D. Renner, Troy R. Torgerson, Steven M. Holland, Imelda C. Hanson, Julie Sawalle-Belohradsky, Bernd H. Belohradsky

المصدر: Journal of Allergy and Clinical Immunology. 131:840-848

مصطلحات موضوعية: Adult, Male, Adolescent, Wiskott–Aldrich syndrome, Immunology, Cell, macromolecular substances, Biology, Filamentous actin, Article, Interleukin 21, medicine, Guanine Nucleotide Exchange Factors, Humans, Immunology and Allergy, Child, Lymphokine-activated killer cell, Immunologic Deficiency Syndromes, Infant, medicine.disease, Actins, Killer Cells, Natural, medicine.anatomical_structure, Lytic cycle, Child, Preschool, Female, Dock8, K562 Cells, DOCK8 Deficiency

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::804c29dc74e3a92d970e454a354ea309Test
https://doi.org/10.1016/j.jaci.2012.12.1568Test

المؤلفون: Michael H. Albert, Georg Mann, Susanne Matthes-Martin, Alexandra Rümmele-Waibel, Ellen D. Renner, René Geyeregger, Bernd Ausserer, Christina Peters, Julie Sawalle-Belohradsky, Bernd H. Belohradsky, Anita Lawitschka, Cäcilia Karitnig-Weiß, Karoly Lakatos, Heidrun Boztug, Ernst Horcher

المصدر: Pediatric Hematology and Oncology. 29:585-594

مصطلحات موضوعية: Transplantation Conditioning, medicine.medical_treatment, DNA Mutational Analysis, Hematopoietic stem cell transplantation, medicine, Guanine Nucleotide Exchange Factors, Humans, Transplantation, Homologous, Eosinophilia, Pneumonitis, business.industry, Hematopoietic Stem Cell Transplantation, Immunologic Deficiency Syndromes, Hematology, medicine.disease, Pedigree, Transplantation, Regimen, surgical procedures, operative, Oncology, Child, Preschool, Mutation, Pediatrics, Perinatology and Child Health, Immunology, Eczematous dermatitis, Female, medicine.symptom, business, DOCK8 Deficiency, Aspergilloma

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::db6fae439964f186d7f93b4b8c1a66c2Test
https://doi.org/10.3109/08880018.2012.714844Test

المؤلفون: Monika Senn-Rauh, Cäcilia Karitnig-Weiss, Annette Boos, Josef Frank, Annette Jansson, V. Wahn, Ellen D. Renner, Michael H. Albert, Julie Sawalle-Belohradsky, Manfred Hönig, Horst von Bernuth, Beate Hagl, Valerie Heinz, Thomas Magg, Anne Schlesinger, Andreas Wollenberg, C. Pache, Benedikt D. Spielberger, Bernd H. Belohradsky, Klaus Schwarz, Tim Niehues, Gregor Dückers

المصدر: Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology. 27(2)

مصطلحات موضوعية: 0301 basic medicine, Male, STAT3 Transcription Factor, T-Lymphocytes, Immunology, Immunoglobulin E, medicine.disease_cause, Lymphocyte Activation, Dermatitis, Atopic, Diagnosis, Differential, 03 medical and health sciences, medicine, Immunology and Allergy, Guanine Nucleotide Exchange Factors, Humans, Cells, Cultured, B-Lymphocytes, biology, business.industry, Infant, Atopic dermatitis, Immune dysregulation, medicine.disease, 030104 developmental biology, Job Syndrome, Child, Preschool, Pediatrics, Perinatology and Child Health, Mutation, biology.protein, Primary immunodeficiency, Cytokines, Female, Dock8, Differential diagnosis, Cell activation, business, Immunologic Memory

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::955d1201cb8535d13d9adc51f3cf1e05Test
https://pubmed.ncbi.nlm.nih.gov/26592211Test

المؤلفون: Bernd H. Belohradsky, Miriam Hoernes, Sophie Cypowyj, Janine Reichenbach, Saleh Al-Muhsen, Magali Audry, Joachim Roesler, Amos Etzioni, Francisco Espinosa Rosales, Matías Oleastro, Luyan Liu, Tatiana Kochetkov, Viktor P. Chernyshov, Olivier Lortholary, Cécile Masson, Julie Toubiana, Stéphane Blanche, Caroline Thumerelle, Reinhard Seger, Dan Engelhard, Beáta Tóth, Yuval Itan, Lizbeth Blancas-Galicia, Patrick Nitschke, Gizi Wildbaum, Ludmyla Chernyshova, Avinash Abhyankar, Jérome Flatot, Ellen D. Renner, Ileana Maria Madrigal Beas, Xiao-Fei Kong, Maya Chrabieh, Antoine Toulon, Capucine Picard, Masao Kobayashi, László Maródi, J. Hiller, Alexandra Y. Kreins, Christine Bodemer, Julie Sawalle-Belohradsky, Alexandre Bolze, Claudia Traidl-Hoffmann, Stéphanie Boisson-Dupuis, Jean-Laurent Casanova, Anastasia Bondarenko, Alain Fischer, Emmanuelle Jouanguy, Laurent Abel, Theresia Kusuma, Nathan Karin, Rosa María Cortés Grimaldo, Pierre-Régis Burgel, Alessandro Borghesi, Annette Jansson, Anne Puel, Mélanie Bué, Jacinta Bustamante, Kilian Eyerich, Mélanie Migaud, Carlos Torres Lozano, Stefanie Eyerich, Barbara Drexel, Sara Sebnem Kilic, Klaus Magdorf, Satoshi Okada, Vera Gulácsy

المساهمون: Uludağ Üniversitesi/Tıp Fakültesi/Çocuk Sağlığı ve Hastalıkları Anabilim Dalı., Kılıç, Sara Şebnem, University of Zurich, Puel, A

المصدر: The Journal of Experimental Medicine
J. Exp. Med. 208, 1635-1648 (2011)

مصطلحات موضوعية: Male, Models, Molecular, medicine.medical_treatment, T-Lymphocytes, Job Syndrome, Mucocutaneous Candidiasis, Mutation, Fluorescent Antibody Technique, Interleukin 6, Electrophoretic Mobility Shift Assay, Receptor, Interferon alpha-beta, Gene, Interleukin 22, 0302 clinical medicine, Hyper-ige syndrome, Interleukin 17, Gain of function mutation, T lymphocyte, Immunology and Allergy, Disease, Chronic mucocutaneous candidiasis, Sequencing-based discovery, hyper-ige syndrome, sequencing-based discovery, cd4(+) t-cells, th17 cells, inborn-errors, ifn-gamma, th17-associated cytokines, deficiency, disease, il-27, Phosphorylation, Child, Dominance (genetics), Priority journal, Allele, 0303 health sciences, Heterozygosity, Candidiasis, Chronic Mucocutaneous, Interleukin-17, Flow Cytometry, 3. Good health, Pedigree, Cytokine, STAT1 Transcription Factor, 2723 Immunology and Allergy, Deficiency, Mucocutaneous candidiasis, Female, Cd4(+) t-cells, Inborn-errors, Human, Il-27, Interleukin 17F, Clinical article, Immunology, Immunoblotting, Molecular Sequence Data, Research & experimental medicine, 610 Medicine & health, Enzyme-Linked Immunosorbent Assay, Biology, Chronic disease, Article, 03 medical and health sciences, Interferon-gamma, Germline mutation, Immunity, STAT1 protein, Stat 1 gene, medicine, Autosomal dominant disorder, Humans, Th17-associated cytokines, ddc:610, Th17 cells, Medicine, research & experimental, Germ-Line Mutation, 030304 developmental biology, 2403 Immunology, Base Sequence, Interleukins, Infant, Heterozygote advantage, Sequence Analysis, DNA, medicine.disease, Interleukin 21, 10036 Medical Clinic, Interferons, Ifn-gamma, Sequence Alignment, 030215 immunology

وصف الملف: application/pdf; LiuL,_2011.pdf - application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5f22afce4bf3f7b792989039cf399f52Test
http://europepmc.org/articles/PMC3149226Test

المؤلفون: Ellen D. Renner, Philip Bufler, Michael H. Albert, Andreas Wollenberg, Valerie Heinz, Oliver Ehrt, Beate Hagl, Jens Neumann, Martin Ries, Julie Sawalle-Belohradsky, Cihan Papan

المصدر: Journal of Allergy and Clinical Immunology. 133:1456-1458

مصطلحات موضوعية: business.industry, Immunology, Immunology and Allergy, Medicine, business, Virology, Dedicator of cytokinesis 8

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::263cc4a8304509fd607e9739695b2f4aTest
https://doi.org/10.1016/j.jaci.2014.02.008Test