المؤلفون: Ludmila Perelygina, Raeesa Faisthalab, Emily Abernathy, Min-hsin Chen, LiJuan Hao, Lionel Bercovitch, Diana K. Bayer, Lenora M. Noroski, Michael T. Lam, Maria Pia Cicalese, Waleed Al-Herz, Arti Nanda, Joud Hajjar, Koen Vanden Driessche, Shari Schroven, Julie Leysen, Misha Rosenbach, Philipp Peters, Johannes Raedler, Michael H. Albert, Roshini S. Abraham, Hemalatha G. Rangarjan, David Buchbinder, Lisa Kobrynski, Anne Pham-Huy, Julie Dhossche, Charlotte Cunningham Rundles, Anna K. Meyer, Amy Theos, T. Prescott Atkinson, Amy Musiek, Mehdi Adeli, Ute Derichs, Christoph Walz, Renate Krüger, Horst von Bernuth, Christoph Klein, Joseph Icenogle, Fabian Hauck, Kathleen E. Sullivan

المساهمون: Perelygina, L., Faisthalab, R., Abernathy, E., Chen, M. -H., Hao, L., Bercovitch, L., Bayer, D. K., Noroski, L. M., Lam, M. T., Cicalese, M. P., Al-Herz, W., Nanda, A., Hajjar, J., Vanden Driessche, K., Schroven, S., Leysen, J., Rosenbach, M., Peters, P., Raedler, J., Albert, M. H., Abraham, R. S., Rangarjan, H. G., Buchbinder, D., Kobrynski, L., Pham-Huy, A., Dhossche, J., Cunningham Rundles, C., Meyer, A. K., Theos, A., Atkinson, T. P., Musiek, A., Adeli, M., Derichs, U., Walz, C., Kruger, R., von Bernuth, H., Klein, C., Icenogle, J., Hauck, F., Sullivan, K. E.

المصدر: Frontiers in Immunology
Frontiers in immunology
Frontiers in Immunology, Vol 12 (2021)

مصطلحات موضوعية: Male, inborn errors of immunity, Neutrophils, Immunology, skin lesion, primary immunodeficiency, Cohort Studies, Th2 Cells, neutrophils, granulomatous inflammation, granuloma treatments, Humans, Immunology and Allergy, Antigens, Viral, Rubella, Aged, Original Research, Inflammation, Granuloma, Tumor Necrosis Factor-alpha, Macrophages, Genetic Diseases, Inborn, Hematopoietic Stem Cell Transplantation, Immunologic Deficiency Syndromes, Receptors, Interleukin-1, RC581-607, Middle Aged, Immunohistochemistry, macrophages, vaccine-derived rubella viruses, Cytokines, Female, Human medicine, Disease Susceptibility, Immunologic diseases. Allergy, Rubella virus

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::149b57858954ccc12da7320569a38583Test
http://europepmc.org/articles/PMC8728873Test

المؤلفون: Sabine M. El-Helou, Anika-Kerstin Biegner, Sebastian Bode, Stephan R. Ehl, Maximilian Heeg, Maria E. Maccari, Henrike Ritterbusch, Carsten Speckmann, Stephan Rusch, Raphael Scheible, Klaus Warnatz, Faranaz Atschekzei, Renata Beider, Diana Ernst, Stev Gerschmann, Alexandra Jablonka, Gudrun Mielke, Reinhold E. Schmidt, Gesine Schürmann, Georgios Sogkas, Ulrich H. Baumann, Christian Klemann, Dorothee Viemann, Horst von Bernuth, Renate Krüger, Leif G. Hanitsch, Carmen M. Scheibenbogen, Kirsten Wittke, Michael H. Albert, Anna Eichinger, Fabian Hauck, Christoph Klein, Anita Rack-Hoch, Franz M. Sollinger, Anne Avila, Michael Borte, Stephan Borte, Maria Fasshauer, Anja Hauenherm, Nils Kellner, Anna H. Müller, Anett Ülzen, Peter Bader, Shahrzad Bakhtiar, Jae-Yun Lee, Ursula Heß, Ralf Schubert, Sandra Wölke, Stefan Zielen, Sujal Ghosh, Hans-Juergen Laws, Jennifer Neubert, Prasad T. Oommen, Manfred Hönig, Ansgar Schulz, Sandra Steinmann, Klaus Schwarz, Gregor Dückers, Beate Lamers, Vanessa Langemeyer, Tim Niehues, Sonu Shai, Dagmar Graf, Carmen Müglich, Marc T. Schmalzing, Eva C. Schwaneck, Hans-Peter Tony, Johannes Dirks, Gabriele Haase, Johannes G. Liese, Henner Morbach, Dirk Foell, Antje Hellige, Helmut Wittkowski, Katja Masjosthusmann, Michael Mohr, Linda Geberzahn, Christian M. Hedrich, Christiane Müller, Angela Rösen-Wolff, Joachim Roesler, Antje Zimmermann, Uta Behrends, Nikolaus Rieber, Uwe Schauer, Rupert Handgretinger, Ursula Holzer, Jörg Henes, Lothar Kanz, Christoph Boesecke, Jürgen K. Rockstroh, Carolynne Schwarze-Zander, Jan-Christian Wasmuth, Dagmar Dilloo, Brigitte Hülsmann, Stefan Schönberger, Stefan Schreiber, Rainald Zeuner, Tobias Ankermann, Philipp von Bismarck, Hans-Iko Huppertz, Petra Kaiser-Labusch, Johann Greil, Donate Jakoby, Andreas E. Kulozik, Markus Metzler, Nora Naumann-Bartsch, Bettina Sobik, Norbert Graf, Sabine Heine, Robin Kobbe, Kai Lehmberg, Ingo Müller, Friedrich Herrmann, Gerd Horneff, Ariane Klein, Joachim Peitz, Nadine Schmidt, Stefan Bielack, Ute Groß-Wieltsch, Carl F. Classen, Jessica Klasen, Peter Deutz, Dirk Kamitz, Lisa Lassay, Klaus Tenbrock, Norbert Wagner, Benedikt Bernbeck, Bastian Brummel, Eusebia Lara-Villacanas, Esther Münstermann, Dominik T. Schneider, Nadine Tietsch, Marco Westkemper, Michael Weiß, Christof Kramm, Ingrid Kühnle, Silke Kullmann, Hermann Girschick, Christof Specker, Elisabeth Vinnemeier-Laubenthal, Henriette Haenicke, Claudia Schulz, Lothar Schweigerer, Thomas G. Müller, Martina Stiefel, Bernd H. Belohradsky, Veronika Soetedjo, Gerhard Kindle, Bodo Grimbacher

المساهمون: Al-Herz, Waleed

المصدر: Frontiers in Immunology, Vol 10 (2019)
FRONTIERS IN IMMUNOLOGY
Frontiers in Immunology
Frontiers in immunology 10, 1272 (2019). doi:10.3389/fimmu.2019.01272

مصطلحات موضوعية: Male, 0301 basic medicine, Pediatrics, Delayed Diagnosis, medicine.medical_treatment, CVID, European Society for Immunodeficiencies (ESID), German PID-NET registry, IgG substitution therapy, PID prevalence, primary immunodeficiency (PID), registry for primary immunodeficiency, Prevalence, Hematopoietic stem cell transplantation, medicine.disease_cause, German, 0302 clinical medicine, Germany, Epidemiology, Immunology and Allergy, Registries, Child, Original Research, Aged, 80 and over, Hematopoietic Stem Cell Transplantation, Middle Aged, ddc, 3. Good health, Child, Preschool, language, Female, Adult, lcsh:Immunologic diseases. Allergy, medicine.medical_specialty, Adolescent, Immunology, Immunoglobulins, Young Adult, 03 medical and health sciences, medicine, Humans, ddc:610, Aged, business.industry, Immunologic Deficiency Syndromes, Infant, Newborn, Infant, Genetic Therapy, Immune dysregulation, language.human_language, 030104 developmental biology, National registry, Age of onset, business, Genetic diagnosis, lcsh:RC581-607, 030215 immunology

وصف الملف: application/pdf; application/octet-stream

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::548173fd8c7c0b6b3554a9823dcf9999Test
https://www.frontiersin.org/article/10.3389/fimmu.2019.01272/fullTest

المؤلفون: Myriam Ricarda Lorenz, Klaus Schwarz, Holm Schneider, Uwe Kölsch, Andrea Scheuern, Renate Krüger, Anna Eichinger, Volker Wahn, Fabian Hauck, Horst von Bernuth, Ansgar Schulz, Nadine Unterwalder, Christian Meisel, Stephanie Heller, Thomas Magg

المصدر: Journal of clinical immunology. 40(3)

مصطلحات موضوعية: Adult, Male, Genotype, medicine.medical_treatment, T cell, T-Lymphocytes, Immunology, Hematopoietic stem cell transplantation, Sepsis, IKBKG, medicine, Immunology and Allergy, Missense mutation, Humans, Immunodeficiency, Cells, Cultured, Cell Proliferation, Sequence Deletion, Splice site mutation, business.industry, Immunologic Deficiency Syndromes, Infant, medicine.disease, Prognosis, I-kappa B Kinase, Pedigree, Cytokine, medicine.anatomical_structure, Phenotype, Child, Preschool, Immunoglobulin G, Female, business, Immunologic Memory

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::247765a52c562cca0e96465a69580f85Test
https://pubmed.ncbi.nlm.nih.gov/31965418Test

المؤلفون: Maurizio Risolino, Renate Krüger, Carlos Rodríguez-Gallego, Cheng-Lung Ku, Capucine Picard, Mathilde Nizon, Sam Loughlin, Anne Puel, Dinakantha S. Kumararatne, Nizar Mahlaoui, Malik Chaker-Margot, Barbara Bosch, Austen Worth, Maher Jedidi, Andrew J. Pollard, Matthieu Bouaziz, Vincent Barlogis, Małgorzata Pac, Caroline Thomas, Sebastian Klinge, Alain Lefevre-Utile, Jadranka Kelecic, Angela L. Hewlett, Juan Miguel Garcia, Alexander Antipenko, Paul Sackstein, Aurora C. Elmore, Licia Selleri, Jean-Laurent Casanova, Bertrand Boisson, Susanne Markus, Alexandre Bolze, Isabelle Meyts, Laurent Abel, Ferah Genel, Tracy A Briggs, Elena Colino, Alain Fischer, Horst von Bernuth, Matias Oleastro

المصدر: Briggs, T & al, E 2018, ' Incomplete penetrance for isolated congenital asplenia in humans with mutations in translated and untranslated RPSA exons ', Proceedings of the National Academy of Sciences, vol. 115, no. 34 . https://doi.org/10.1073/pnas.1805437115Test
Proceedings of the National Academy of Sciences of the United States of America, vol 115, iss 34

مصطلحات موضوعية: 0301 basic medicine, Proband, Untranslated region, Male, Lydia Becker Institute, Penetrance, VARIANTS, ribosomopathy, Exon, 0302 clinical medicine, RARE, Receptors, 2.1 Biological and endogenous factors, Aetiology, Genetics, Pediatric, 0303 health sciences, Multidisciplinary, incomplete penetrance, Exons, Founder Effect, 3. Good health, Multidisciplinary Sciences, PNAS Plus, 030220 oncology & carcinogenesis, isolated congenital asplenia, Science & Technology - Other Topics, Female, Haploinsufficiency, Ribosomal Proteins, Heterozygote, Primary Immunodeficiency Diseases, RNA Splicing, DIAMOND-BLACKFAN ANEMIA, HAPLOINSUFFICIENCY, Biology, DIAGNOSIS, Receptors, Laminin, 03 medical and health sciences, ADULT, Clinical Research, ResearchInstitutes_Networks_Beacons/lydia_becker_institute_of_immunology_and_inflammation, Humans, Gene, 030304 developmental biology, Science & Technology, SEPSIS, DELETION, Human Genome, Isolated congenital asplenia, Immunologic Deficiency Syndromes, Ribosomal protein SA, HUMAN 80S RIBOSOME, RPSA, 030104 developmental biology, Protein Biosynthesis, Mutation, spleen, Laminin, 5' Untranslated Regions, Spleen, Founder effect

وصف الملف: application/pdf; Print-Electronic

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0c03b915dba5231598da7220f1f7921eTest
https://doi.org/10.1073/pnas.1805437115Test

المؤلفون: Sebastian Fuchs, Ingeborg Krägeloh-Mann, Katja Martina Eckl, Kai Lehmberg, Ansgar Schulz, Julia Bank, Gillian M. Griffiths, Peter Nürnberg, Roswitha Plank, Udo zur Stadt, Klaus Niethammer, Stephan Ehl, Holger Thiele, Hans Christian Hennies, Sandra Ammann, Horst von Bernuth, Nele M. G. Dieckmann, Roland Werner, Janine Altmüller, Samantha Grieve, Anne Strauss

المساهمون: Ehl, Stephan [0000-0002-9265-2721], Apollo - University of Cambridge Repository

المصدر: Blood

مصطلحات موضوعية: 0301 basic medicine, Adaptor Protein Complex 3, Immunology, Fluorescent Antibody Technique, Biology, Transfection, medicine.disease_cause, Biochemistry, Article, 03 medical and health sciences, 0302 clinical medicine, Seizures, medicine, Humans, Exome sequencing, Immunodeficiency, Genetics, Mutation, Platelet storage pool deficiency, Immunologic Deficiency Syndromes, Cell Biology, Hematology, medicine.disease, Null allele, Adaptor Protein Complex delta Subunits, 030104 developmental biology, Hermanski-Pudlak Syndrome, 030220 oncology & carcinogenesis, Albinism, Electrophoresis, Polyacrylamide Gel, Hermansky–Pudlak syndrome

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::024db1953f651af41af9fcdebf493a84Test
https://doi.org/10.1182/blood-2015-09-671636Test

المؤلفون: Anne Puel, Helen Chapel, Horst von Bernuth, Jean-Laurent Casanova, Capucine Picard

مصطلحات موضوعية: Microbiology (medical), Shigellosis, Shigella sonnei, Protein Serine-Threonine Kinases, medicine.disease_cause, Meningitis, Bacterial, Intestinal mucosa, Trimethoprim, Sulfamethoxazole Drug Combination, Streptococcus pneumoniae, medicine, Humans, Child, Immunodeficiency, Dysentery, Bacillary, Interleukin-1 receptor–associated kinase 4 deficiency, biology, Interleukin-6, business.industry, Immunologic Deficiency Syndromes, Intracellular Signaling Peptides and Proteins, medicine.disease, Anti-Bacterial Agents, Interleukin-10, Interleukin-1 Receptor-Associated Kinases, Infectious Diseases, Gene Expression Regulation, Immunology, biology.protein, Primary immunodeficiency, Female, business, Meningitis

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::367ca4e6f838f1fbb740691d29e12080Test
https://doi.org/10.1086/428733Test

المؤلفون: Kun Yang, Capucine Picard, Anne Puel, Jean-Laurent Casanova, Horst von Bernuth, Cheng-Lung Ku

المصدر: Immunologic Research. 38:347-352

مصطلحات موضوعية: Staphylococcus aureus, Pneumococcal disease, Immunology, Immunologic Deficiency Syndromes, Inflammation, NF-κB, Staphylococcal Infections, Biology, medicine.disease, Pneumococcal Infections, Pneumococcal infections, chemistry.chemical_compound, Interleukin-1 Receptor-Associated Kinases, Streptococcus pneumoniae, chemistry, Primary immunodeficiency, medicine, Humans, Pyogenic bacteria, medicine.symptom

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::59a56cd273483975f449f452eb184b14Test
https://doi.org/10.1007/s12026-007-0006-2Test

المؤلفون: Capucine Picard, László Maródi, Jean-Laurent Casanova, Orchidée Filipe-Santos, Tatiana Lawrence, Huey Hsuan Chang, Axel Jeurissen, Anne Puel, Marc Raes, Horst von Bernuth, Xavier Bossuyt, Cheng-Lung Ku, Melinda Erdos, Jacinta Bustamante

المصدر: Journal of Medical Genetics. 44:16-23

مصطلحات موضوعية: Male, DNA, Complementary, Biology, medicine.disease_cause, Polymerase Chain Reaction, Pneumococcal Infections, Pneumococcal Vaccines, Germline mutation, Recurrence, Immunity, Streptococcus pneumoniae, Genotype, Genetics, medicine, Humans, Child, Genetics (clinical), Mutation, Ceftriaxone, Immunologic Deficiency Syndromes, NF-kappa B, Interleukin, Exons, IRAK4, medicine.disease, Introns, Anti-Bacterial Agents, I-kappa B Kinase, Pneumococcal infections, Interleukin-1 Receptor-Associated Kinases, Child, Preschool, Antibody Formation, Immunology, Original Article, Interleukin-1, Signal Transduction

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::21554939b372665a50a6f6b0a33c065bTest
https://doi.org/10.1136/jmg.2006.044446Test

المؤلفون: Capucine Picard, Huey-Hsuan Chang, Hamoud Al-Mousa, Tatiana Lawrence, Orchidée Filipe Santos, Jean-Laurent Casanova, Anne Puel, Cheng-Lung Ku, Kun Yang, Horst von Bernuth, Jacinta Bustamante

المصدر: Journal of Endotoxin Research. 11:220-224

مصطلحات موضوعية: MAPK/ERK pathway, 0301 basic medicine, 030106 microbiology, Immunology, Receptors, Cell Surface, medicine.disease_cause, Microbiology, 03 medical and health sciences, 0302 clinical medicine, Ectodermal Dysplasia, medicine, Humans, Receptor, Molecular Biology, Immunodeficiency, Mutation, Membrane Glycoproteins, biology, Kinase, Toll-Like Receptors, Immunologic Deficiency Syndromes, Models, Immunological, NF-kappa B, Receptors, Interleukin-1, Genetic Diseases, X-Linked, Cell Biology, medicine.disease, IRAK4, Hedgehog signaling pathway, Infectious Diseases, Mitogen-activated protein kinase, biology.protein, Signal Transduction, 030215 immunology

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::290da5b2301f56c83b749d2007254b99Test
https://doi.org/10.1177/09680519050110040601Test

المؤلفون: Orchidée Filipe Santos, Jean-Laurent Casanova, Tatiana Lawrence, Cheng-Lung Ku, Horst von Bernuth, Kun Yang, Capucine Picard, Hamoud Al-Mousa, Huey-Hsuan Chang, Jacinta Bustamante, Anne Puel

المصدر: Immunological Reviews. 203:10-20

مصطلحات موضوعية: Immunology, Receptors, Cell Surface, Protein Serine-Threonine Kinases, Biology, Proinflammatory cytokine, Germline mutation, Ectodermal Dysplasia, medicine, Animals, Humans, Immunology and Allergy, Receptor, Immunodeficiency, Toll-like receptor, Membrane Glycoproteins, Toll-Like Receptors, Immunologic Deficiency Syndromes, NF-kappa B, IRAK4, medicine.disease, Phenotype, I-kappa B Kinase, Phosphotransferases (Alcohol Group Acceptor), Interleukin-1 Receptor-Associated Kinases, Mutation, Signal transduction, Signal Transduction

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::480a1112afb092eb36334f8eaf733213Test
https://doi.org/10.1111/j.0105-2896.2005.00235.xTest