P1408: MONOALLELIC AND BIALLELIC GERMLINE MUTATIONS AFFECTING THE TRANSCRIPTION FACTOR HELIOS CAUSE PLEIOTROPIC DEFECTS OF IMMUNITY.

Autor: Mayr, D., Shahin, T., Shoeb, M., Kuehn, H. S., Hoeger, B., Giuliani, S., Gawriyski, L., Yüce Petronczki, Ö., Hadjadj, J., Köstel Bal, S., Zoghi, S., Haimel, M., Jimenez Heredia, R., Boutboul, D., Triebwasser, M., Rialland‐Battisti, F., Tangye, S., Fleisher, T., Rezaei, N., Romberg, N.

Publikováno v: HemaSphere; 2022 Supplement 3, Vol. 6, p1292-1293, 2p

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Extended clinical and immunological phenotype and transplant outcome in CD27 and CD70 deficiency.

Autor: Ghosh S; Department of Pediatric Oncology, Hematology and Clinical Immunology, Medical Faculty, Center of Child and Adolescent Health, Heinrich-Heine-University, Düsseldorf, Germany., Köstel Bal S; Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases, Vienna, Austria.; St. Anna Children's Cancer Research Institute (CCRI), Vienna, Austria.; CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna, Austria., Edwards ESJ; Garvan Institute of Medical Research, Darlinghurst, NSW, Australia.; St. Vincent's Clinical School, UNSW Sydney, Randwick, NSW, Australia., Pillay B; Garvan Institute of Medical Research, Darlinghurst, NSW, Australia.; St. Vincent's Clinical School, UNSW Sydney, Randwick, NSW, Australia., Jiménez Heredia R; Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases, Vienna, Austria.; St. Anna Children's Cancer Research Institute (CCRI), Vienna, Austria.; CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna, Austria., Erol Cipe F; Department of Pediatric Allergy and Immunology, Istinye University, Istanbul, Turkey., Rao G; Garvan Institute of Medical Research, Darlinghurst, NSW, Australia., Salzer E; Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases, Vienna, Austria.; St. Anna Children's Cancer Research Institute (CCRI), Vienna, Austria.; CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna, Austria.; St. Anna Children's Hospital, Department of Pediatrics and Adolescent Medicine, Medical University of Vienna, Vienna, Austria., Zoghi S; Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases, Vienna, Austria.; St. Anna Children's Cancer Research Institute (CCRI), Vienna, Austria.; CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna, Austria.; Research Center for Immunodeficiencies, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran., Abolhassani H; Research Center for Immunodeficiencies, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran.; Division of Clinical Immunology, Department of Laboratory Medicine, Karolinska University Hospital Huddinge, Karolinska Institutet, Stockholm, Sweden., Momen T; Department of Allergy and Clinical Immunology, Child Growth and Development Research Center, Research Institute for Primordial Prevention of Non-Communicable Disease, Isfahan University of Medical Sciences, Isfahan, Iran., Gostick E; Division of Infection and Immunity, School of Medicine, Cardiff University, Cardiff, United Kingdom., Price DA; Division of Infection and Immunity, School of Medicine, Cardiff University, Cardiff, United Kingdom.; Vaccine Research Center., Zhang Y; Laboratory of Clinical Immunology and Microbiology, Division of Intramural Research.; Clinical Genomics Program, and., Oler AJ; Clinical Genomics Program, and.; Bioinformatics and Computational Biosciences Branch, Office of Cyber Infrastructure and Computational Biology, National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health, Bethesda, MD., Gonzaga-Jauregui C; Regeneron Genetics Center, Tarrytown, NY., Erman B; Institute of Child Health, Hacettepe University, Ankara, Turkey.; Can Sucak Research Laboratory for Translational Immunology, Center for Genomics and Rare Diseases, Hacettepe University, Ankara, Turkey., Metin A; Division of Pediatric Allergy and Immunology, University of Health Sciences/Ankara City Hospital/Children's Hospital, Ankara, Turkey., Ilhan I; Division of Pediatric Oncology, University of Health Sciences/Ankara City Hospital/Children's Hospital, Ankara, Turkey., Haskologlu S; Department of Pediatric Allergy and Immunology, School of Medicine, Ankara University, Ankara, Turkey., Islamoglu C; Department of Pediatric Allergy and Immunology, School of Medicine, Ankara University, Ankara, Turkey., Baskin K; Department of Pediatric Allergy and Immunology, School of Medicine, Ankara University, Ankara, Turkey., Ceylaner S; Intergen Genetic Diagnosis and Research Center, Ankara, Turkey., Yilmaz E; Department of Pediatrics, Division of Pediatric Hematology & Oncology & Molecular Biology and Genetic Department, Erciyes University, Kayseri, Turkey.; Gevher Nesibe Genom and Stem Cell Institution, GENKOK Genome and Stem Cell Center, Erciyes University, Kayseri, Turkey., Unal E; Department of Pediatrics, Division of Pediatric Hematology & Oncology & Molecular Biology and Genetic Department, Erciyes University, Kayseri, Turkey.; Gevher Nesibe Genom and Stem Cell Institution, GENKOK Genome and Stem Cell Center, Erciyes University, Kayseri, Turkey., Karakukcu M; Department of Pediatrics, Division of Pediatric Hematology & Oncology & Molecular Biology and Genetic Department, Erciyes University, Kayseri, Turkey.; Gevher Nesibe Genom and Stem Cell Institution, GENKOK Genome and Stem Cell Center, Erciyes University, Kayseri, Turkey., Berghuis D; Willem-Alexander Children's Hospital, Department of Pediatrics, Leiden University Medical Center, Leiden, The Netherlands., Cole T; Department of Allergy and Immunology, The Royal Children's Hospital, Melbourne, VIC, Australia., Gupta AK; Division of Pediatric Oncology, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India., Hauck F; Dr von Hauner Children's Hospital, University Hospital, Ludwig Maximilian University of Munich, Munich, Germany., Kogler H; St. Anna Children's Hospital, Department of Pediatrics and Adolescent Medicine, Medical University of Vienna, Vienna, Austria., Hoepelman AIM; Department of Internal Medicine and Infectious Diseases, University Medical Center Utrecht, Utrecht, The Netherlands., Baris S; Division of Allergy and Immunology, Marmara University, Istanbul, Turkey.; The Isil Berat Barlan Center for Translational Medicine, Istanbul, Turkey.; Istanbul Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies, Istanbul, Turkey., Karakoc-Aydiner E; Division of Allergy and Immunology, Marmara University, Istanbul, Turkey.; The Isil Berat Barlan Center for Translational Medicine, Istanbul, Turkey.; Istanbul Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies, Istanbul, Turkey., Ozen A; Division of Allergy and Immunology, Marmara University, Istanbul, Turkey.; The Isil Berat Barlan Center for Translational Medicine, Istanbul, Turkey.; Istanbul Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies, Istanbul, Turkey., Kager L; St. Anna Children's Hospital, Department of Pediatrics and Adolescent Medicine, Medical University of Vienna, Vienna, Austria., Holzinger D; Department of Pediatric Hematology-Oncology, University of Duisburg-Essen, Essen, Germany., Paulussen M; Vestische Kinder-und Jugendklinik, Witten/Herdecke University, Datteln, Germany., Krüger R; Department of Pediatric Pulmonology, Immunology, and Intensive Care Medicine, Charité-Universitätsmedizin Berlin, Berlin, Germany., Meisel R; Department of Pediatric Oncology, Hematology and Clinical Immunology, Medical Faculty, Center of Child and Adolescent Health, Heinrich-Heine-University, Düsseldorf, Germany., Oommen PT; Department of Pediatric Oncology, Hematology and Clinical Immunology, Medical Faculty, Center of Child and Adolescent Health, Heinrich-Heine-University, Düsseldorf, Germany., Morris E; Institute of Immunity & Transplantation, University College London, Royal Free Hospital, London, United Kingdom., Neven B; Unité d'Immuno-Hematologie et Rhumatologie, Département de Pédiatrie Necker-Enfants Malades Hospital, Assistance Publique-Hôpitaux de Paris (APHP), Paris, France.; INSERM U1163, Imagine Institute, Université de Paris, Paris, France., Worth A; UCL Great Ormond Street Institute of Child Health, Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom., van Montfrans J; Department of Pediatric Immunology and Infectious Diseases, Wilhelmina Children's Hospital, UMC Utrecht, Utrecht, The Netherlands., Fraaij PLA; Department of Viroscience, Erasmus MC, Rotterdam, The Netherlands.; Department of Pediatrics, Subdivision Infectious Diseases and Immunology, Erasmus MC-Sophia, Rotterdam, The Netherlands., Choo S; Department of Allergy and Immunology, The Royal Children's Hospital, Melbourne, VIC, Australia., Dogu F; Department of Pediatric Allergy and Immunology, School of Medicine, Ankara University, Ankara, Turkey., Davies EG; UCL Great Ormond Street Institute of Child Health, Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom., Burns S; Institute of Immunity & Transplantation, University College London, Royal Free Hospital, London, United Kingdom.; Department of Immunology, Royal Free London National Health Service (NHS) Foundation Trust, London, United Kingdom., Dückers G; Department of Pediatrics, Helios Children's Hospital, Krefeld, Germany., Becker RP; Department of Pediatrics, Helios Children's Hospital, Krefeld, Germany., von Bernuth H; Department of Pediatric Pulmonology, Immunology, and Intensive Care Medicine, Charité-Universitätsmedizin Berlin, Berlin, Germany.; Department of Immunology, Labor Berlin GmbH, Berlin, Germany.; Berlin-Brandenburg Center for Regenerative Therapies, Berlin, Germany., Latour S; Laboratory of Lymphocyte Activation and Susceptibility to EBV infection, INSERM U1163, Imagine Institute, Université de Paris, Paris, France., Faraci M; Hematopoietic Stem Cell Transplantation Unit and Istituto di Ricovero e Cura Pediatrico a Carattere Scientifico (IRCSS) Istituto Giannina Gaslini Research Institute Genova, Italy., Gattorno M; Center for Autoinflammatory Diseases and Immunodeficiency, Istituto di Ricovero e Cura Pediatrico a Carattere Scientifico (IRCCS) Istituto Giannina Gaslini, Genova, Italy., Su HC; Laboratory of Clinical Immunology and Microbiology, Division of Intramural Research.; Clinical Genomics Program, and., Pan-Hammarström Q; Department of Biosciences and Nutrition (NEO), Karolinska Institutet, Karolinska, Sweden., Hammarström L; Division of Clinical Immunology, Department of Laboratory Medicine, Karolinska University Hospital Huddinge, Karolinska Institutet, Stockholm, Sweden.; Beijing Genomics Institute (BGI) Shenzhen, Shenzhen, China., Lenardo MJ; Clinical Genomics Program, and.; Molecular Development of the Immune System Section, Laboratory of Immune System Biology, NIAID, National Institutes of Health, Bethesda, MD., Ma CS; Garvan Institute of Medical Research, Darlinghurst, NSW, Australia.; St. Vincent's Clinical School, UNSW Sydney, Randwick, NSW, Australia., Niehues T; Department of Viroscience, Erasmus MC, Rotterdam, The Netherlands., Aghamohammadi A; Research Center for Immunodeficiencies, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran.; Primary Immunodeficiency Diseases Network (PIDNet), Universal Scientific Education and Research Network (USERN), Tehran, Iran; and., Rezaei N; Research Center for Immunodeficiencies, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran.; Primary Immunodeficiency Diseases Network (PIDNet), Universal Scientific Education and Research Network (USERN), Tehran, Iran; and., Ikinciogullari A; Department of Pediatric Allergy and Immunology, School of Medicine, Ankara University, Ankara, Turkey., Tangye SG; Garvan Institute of Medical Research, Darlinghurst, NSW, Australia.; St. Vincent's Clinical School, UNSW Sydney, Randwick, NSW, Australia., Lankester AC; Willem-Alexander Children's Hospital, Department of Pediatrics, Leiden University Medical Center, Leiden, The Netherlands., Boztug K; Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases, Vienna, Austria.; St. Anna Children's Cancer Research Institute (CCRI), Vienna, Austria.; CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna, Austria.; St. Anna Children's Hospital, Department of Pediatrics and Adolescent Medicine, Medical University of Vienna, Vienna, Austria.; Department of Pediatrics and Adolescent Medicine, Medical University of Vienna, Vienna, Austria.

Publikováno v: Blood [Blood] 2020 Dec 03; Vol. 136 (23), pp. 2638-2655.

Loss of the interleukin-6 receptor causes immunodeficiency, atopy, and abnormal inflammatory responses.

Autor: Spencer S; Medical Research Council Toxicology Unit, University of Cambridge, Cambridge, UK.; Department of Medicine, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK., Köstel Bal S; Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases, Vienna, Austria.; CeMM Research Center for Molecular Medicine, Austrian Academy of Sciences, Vienna, Austria., Egner W; Sheffield Teaching Hospitals National Health Service Trust, Sheffield, UK.; Department of Infection Immunity and Cardiovascular Disease, University of Sheffield, Sheffield, UK., Lango Allen H; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK.; National Institute for Health Research BioResource, Cambridge University Hospitals, Cambridge Biomedical Campus, Cambridge, UK., Raza SI; Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan., Ma CA; Laboratory of Allergic Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD., Gürel M; Cancer Research UK Cambridge Institute, Cambridge Biomedical Campus, Cambridge, UK., Zhang Y; Laboratory of Allergic Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD., Sun G; Laboratory of Allergic Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD., Sabroe RA; Department of Dermatology, Sheffield Teaching Hospitals National Health Service Trust, Sheffield, UK., Greene D; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK.; National Institute for Health Research BioResource, Cambridge University Hospitals, Cambridge Biomedical Campus, Cambridge, UK.; Medical Research Council Biostatistics Unit, Cambridge Biomedical Campus, Cambridge, UK., Rae W; Department of Medicine, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK., Shahin T; Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases, Vienna, Austria.; CeMM Research Center for Molecular Medicine, Austrian Academy of Sciences, Vienna, Austria., Kania K; Cancer Research UK Cambridge Institute, Cambridge Biomedical Campus, Cambridge, UK., Ardy RC; Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases, Vienna, Austria.; CeMM Research Center for Molecular Medicine, Austrian Academy of Sciences, Vienna, Austria., Thian M; Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases, Vienna, Austria.; CeMM Research Center for Molecular Medicine, Austrian Academy of Sciences, Vienna, Austria.; Department of Pediatrics and Adolescent Medicine, Medical University of Vienna, Vienna, Austria.; St. Anna Kinderspital and Children's Cancer Research Institute, Department of Pediatrics and Adolescent Medicine, Medical University of Vienna, Vienna, Austria., Staples E; Department of Medicine, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK., Pecchia-Bekkum A; Department of Medicine, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK., Worrall WPM; Department of Medicine, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK., Stephens J; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK.; National Institute for Health Research BioResource, Cambridge University Hospitals, Cambridge Biomedical Campus, Cambridge, UK.; National Health Service Blood and Transplant Cambridge, Cambridge Biomedical Campus, Cambridge, UK., Brown M; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK.; National Institute for Health Research BioResource, Cambridge University Hospitals, Cambridge Biomedical Campus, Cambridge, UK.; National Health Service Blood and Transplant Cambridge, Cambridge Biomedical Campus, Cambridge, UK., Tuna S; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK.; National Institute for Health Research BioResource, Cambridge University Hospitals, Cambridge Biomedical Campus, Cambridge, UK.; National Health Service Blood and Transplant Cambridge, Cambridge Biomedical Campus, Cambridge, UK., York M; Sheffield Teaching Hospitals National Health Service Trust, Sheffield, UK.; Department of Infection Immunity and Cardiovascular Disease, University of Sheffield, Sheffield, UK., Shackley F; Sheffield Teaching Hospitals National Health Service Trust, Sheffield, UK.; Department of Infection Immunity and Cardiovascular Disease, University of Sheffield, Sheffield, UK., Kerrin D; Barnsley Hospitals National Health Service Foundation Trust, Barnsley, UK., Sargur R; Sheffield Teaching Hospitals National Health Service Trust, Sheffield, UK.; Department of Infection Immunity and Cardiovascular Disease, University of Sheffield, Sheffield, UK., Condliffe A; Sheffield Teaching Hospitals National Health Service Trust, Sheffield, UK.; Department of Infection Immunity and Cardiovascular Disease, University of Sheffield, Sheffield, UK., Tipu HN; Immunology Department, Armed Forces Institute of Pathology, Rawalpindi, Pakistan., Kuehn HS; Department of Laboratory Medicine, Clinical Center, National Institutes of Health, Bethesda, MD., Rosenzweig SD; Department of Laboratory Medicine, Clinical Center, National Institutes of Health, Bethesda, MD., Turro E; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK.; National Institute for Health Research BioResource, Cambridge University Hospitals, Cambridge Biomedical Campus, Cambridge, UK.; Medical Research Council Biostatistics Unit, Cambridge Biomedical Campus, Cambridge, UK.; National Health Service Blood and Transplant Cambridge, Cambridge Biomedical Campus, Cambridge, UK., Tavaré S; Cancer Research UK Cambridge Institute, Cambridge Biomedical Campus, Cambridge, UK.; Herbert and Florence Irving Institute for Cancer Dynamics, Columbia University, New York, NY.; New York Genome Center, New York, NY., Thrasher AJ; Molecular and Cellular Immunology Section, University College London Great Ormond Street Institute of Child Health, Great Ormond Street Hospital National Health Service Trust, London, UK., Jodrell DI; Department of Oncology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK., Smith KGC; Department of Medicine, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK., Boztug K; Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases, Vienna, Austria kaan.boztug@rud.lbg.ac.at.; CeMM Research Center for Molecular Medicine, Austrian Academy of Sciences, Vienna, Austria.; Department of Pediatrics and Adolescent Medicine, Medical University of Vienna, Vienna, Austria.; St. Anna Kinderspital and Children's Cancer Research Institute, Department of Pediatrics and Adolescent Medicine, Medical University of Vienna, Vienna, Austria.; Vienna Center for Rare and Undiagnosed Diseases, Vienna, Austria., Milner JD; Laboratory of Allergic Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD joshua.milner@nih.gov., Thaventhiran JED; Medical Research Council Toxicology Unit, University of Cambridge, Cambridge, UK jedt2@cam.ac.uk.; Department of Medicine, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK.; Cancer Research UK Cambridge Institute, Cambridge Biomedical Campus, Cambridge, UK.

Publikováno v: The Journal of experimental medicine [J Exp Med] 2019 Sep 02; Vol. 216 (9), pp. 1986-1998. Date of Electronic Publication: 2019 Jun 24.