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Genetic Analysis of a Cohort of 275 Patients with Hyper-IgE Syndromes and/or Chronic Mucocutaneous Candidiasis.

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Title: Genetic Analysis of a Cohort of 275 Patients with Hyper-IgE Syndromes and/or Chronic Mucocutaneous Candidiasis.
Authors: Frede N; Center for Chronic Immunodeficiency, Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, Germany.; Department of Rheumatology and Clinical Immunology, Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, Germany., Rojas-Restrepo J; Center for Chronic Immunodeficiency, Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, Germany.; Institute for Immunodeficiency, Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, Germany., Caballero Garcia de Oteyza A; Center for Chronic Immunodeficiency, Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, Germany.; Institute for Immunodeficiency, Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, Germany., Buchta M; Center for Chronic Immunodeficiency, Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, Germany., Hübscher K; Center for Chronic Immunodeficiency, Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, Germany.; Institute for Immunodeficiency, Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, Germany., Gámez-Díaz L; Center for Chronic Immunodeficiency, Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, Germany.; Institute for Immunodeficiency, Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, Germany., Proietti M; Center for Chronic Immunodeficiency, Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, Germany.; Institute for Immunodeficiency, Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, Germany., Saghafi S; Immunology Asthma and Allergy Research Institute Tehran University of Medical Sciences , Tehran, Iran., Chavoshzadeh Z; Pediatric Infectious Research Center, Mofid Children Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran., Soler-Palacin P; Pediatric Infectious Diseases and Immunodeficiencies Unit, Hospital Universitari Vall D'Hebron, Barcelona, Catalonia, Spain., Galal N; Department of Pediatrics, Faculty of Medicine, Cairo University, Cairo, Egypt., Adeli M; Sidra Medicine, Weill Cornell Medicine, Hamad Medical Corporation, Doha, Qatar., Aldave-Becerra JC; Allergy and Immunology Division, Hospital Nacional Edgardo Rebagliati Martins, Lima, Peru., Al-Ddafari MS; Laboratory of Applied Molecular Biology and Immunology, University of Abou-Bekr Belkaïd, Tlemcen, Algeria., Ardenyz Ö; Division of Allergy and Immunology, Department of Internal Medicine, Faculty of Medicine, Ege University, Izmir, Turkey., Atkinson TP; Division of Pediatric Allergy & Immunology, University of Alabama At Birmingham, Birmingham, AL, USA., Kut FB; Departmant of Pediatrics, Division of Pediatric Immunology and Allergy, Faculty of Medicine, Erciyes University, Kayseri, Turkey., Çelmeli F; Antalya Education and Research Hospital Department of Pediatric Immunology and Allergy, Antalya, Turkey., Rees H; Bristol Royal Hospital for Children, University Hospitals Bristol NHS Foundation Trust, Bristol, UK., Kilic SS; Faculty of Medicine, Uludag University, Bursa, Turkey., Kirovski I; Medical Faculty Skopje, 50 Divizija BB, 1000, Skopje, Macedonia., Klein C; Department of Pediatrics, Dr. Von Hauner Children's Hospital, University Hospital, LMU Munich, Munich, Germany., Kobbe R; First Department of Medicine, Division of Infectious Diseases, University Medical Center , Hamburg-Eppendorf, Germany., Korganow AS; UFR Médecine, Université de Strasbourg, Strasbourg, France., Lilic D; Institute of Cellular Medicine, Newcastle University, Newcastle-upon-Tyne, UK., Lunt P; Centre for Academic Child Health, University of Bristol, Bristol, UK., Makwana N; Department of Pediatrics, Sandwell and West, Birmingham Hospitals NHS Trust, Birmingham, UK., Metin A; Department of Pediatric Allergy and Immunology, Ankara Children's Hematology Oncology Training and Research Hospital, Ankara, Turkey., Özgür TT; Department of Pediatrics, Division of Immunology, Akdeniz University Medical Faculty, Antalya, Turkey., Karakas AA; Department of Dermatology and Venerology, Akdeniz University Medical Faculty, Antalya, Turkey., Seneviratne S; Institute of Immunity and Transplantation, Royal Free Hospital and University College London, London, UK., Sherkat R; Acquired Immunodeficiency Research Center, Isfahan University of Medical Sciences, Isfahan, Iran., Sousa AB; Serviço de Genética, Hospital de Santa Maria, Centro Hospitalar Universitário Lisboa Norte, and Laboratório de Imunologia Básica, Faculdade de Medicina de Lisboa, Universidade de Lisboa, Lisboa, Portugal., Unal E; Department of Pediatrics, Division of Pediatric Hematology and Oncology, Faculty of Medicine, Erciyes University, 38010, Melikgazi, Kayseri, Turkey.; Deparment of Molecular Biology and Genetics, Gevher Nesibe Genom and Stem Cell Institution, GENKOK Genome and Stem Cell Center, Erciyes University, 38010, Melikgazi, Kayseri, Turkey., Patiroglu T; Department of Pediatrics, Division of Pediatric Immunology, Faculty of Medicine, Erciyes University, 38010, Melikgazi, Kayseri, Turkey., Wahn V; Department of Pediatric Respiratory Medicine, Immunology and Critical Care Medicine, Charité - Universitätsmedizin Berlin, Freie Universität Berlin, Humboldt-Universität Zu Berlin, and Berlin Institute of Health, Berlin, Germany., von Bernuth H; Department of Pediatric Respiratory Medicine, Immunology and Critical Care Medicine, Charité - Universitätsmedizin Berlin, Freie Universität Berlin, Humboldt-Universität Zu Berlin, and Berlin Institute of Health, Berlin, Germany.; Department of Immunology, Labor Berlin GmbH, Berlin, Germany.; Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität Zu Berlin, Berlin Institute of Health (BIH), Berlin-Brandenburg Center for Regenerative Therapies (BCRT), Berlin, Germany.; Berlin Institute of Health (BIH), Berlin, Germany., Whiteford M; Department of Clinical Genetics, Queen Elizabeth University Hospital, Glasgow, G51 4TF, UK., Doffinger R; Department of Clinical Biochemistry and Immunology, Addenbrooke's Hospital, Cambridge, UK., Jouhadi Z; Department of Pediatric Infectious Diseases, Children's Hospital CHU Ibn Rochd, University Hassan 2, Casablanca, Morocco., Grimbacher B; Center for Chronic Immunodeficiency, Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, Germany. bodo.grimbacher@uniklinik-freiburg.de.; Institute for Immunodeficiency, Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, Germany. bodo.grimbacher@uniklinik-freiburg.de.; German Center for Infection Research (DZIF), Satellite Center Freiburg, Freiburg, Germany. bodo.grimbacher@uniklinik-freiburg.de.; CIBSS - Centre for Integrative Biological Signalling Studies, Albert-Ludwigs University, Freiburg, Germany. bodo.grimbacher@uniklinik-freiburg.de.; RESIST - Cluster of Excellence 2155 to Hanover Medical School, Satellite Center Freiburg, Freiburg, Germany. bodo.grimbacher@uniklinik-freiburg.de.; CCI-Center for Chronic Immunodeficiency, Universitätsklinikum Freiburg, Breisacher Straße 115, 79106, Freiburg, Germany. bodo.grimbacher@uniklinik-freiburg.de.
Source: Journal of clinical immunology [J Clin Immunol] 2021 Nov; Vol. 41 (8), pp. 1804-1838. Date of Electronic Publication: 2021 Aug 14.
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Springer Country of Publication: Netherlands NLM ID: 8102137 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-2592 (Electronic) Linking ISSN: 02719142 NLM ISO Abbreviation: J Clin Immunol Subsets: MEDLINE
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  Data: Genetic Analysis of a Cohort of 275 Patients with Hyper-IgE Syndromes and/or Chronic Mucocutaneous Candidiasis.
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  Data: <searchLink fieldCode="AU" term="%22Frede+N%22">Frede N</searchLink>; Center for Chronic Immunodeficiency, Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, Germany.; Department of Rheumatology and Clinical Immunology, Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, Germany.<br /><searchLink fieldCode="AU" term="%22Rojas-Restrepo+J%22">Rojas-Restrepo J</searchLink>; Center for Chronic Immunodeficiency, Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, Germany.; Institute for Immunodeficiency, Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, Germany.<br /><searchLink fieldCode="AU" term="%22Caballero+Garcia+de+Oteyza+A%22">Caballero Garcia de Oteyza A</searchLink>; Center for Chronic Immunodeficiency, Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, Germany.; Institute for Immunodeficiency, Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, Germany.<br /><searchLink fieldCode="AU" term="%22Buchta+M%22">Buchta M</searchLink>; Center for Chronic Immunodeficiency, Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, Germany.<br /><searchLink fieldCode="AU" term="%22Hübscher+K%22">Hübscher K</searchLink>; Center for Chronic Immunodeficiency, Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, Germany.; Institute for Immunodeficiency, Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, Germany.<br /><searchLink fieldCode="AU" term="%22Gámez-Díaz+L%22">Gámez-Díaz L</searchLink>; Center for Chronic Immunodeficiency, Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, Germany.; Institute for Immunodeficiency, Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, Germany.<br /><searchLink fieldCode="AU" term="%22Proietti+M%22">Proietti M</searchLink>; Center for Chronic Immunodeficiency, Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, Germany.; Institute for Immunodeficiency, Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, Germany.<br /><searchLink fieldCode="AU" term="%22Saghafi+S%22">Saghafi S</searchLink>; Immunology Asthma and Allergy Research Institute Tehran University of Medical Sciences , Tehran, Iran.<br /><searchLink fieldCode="AU" term="%22Chavoshzadeh+Z%22">Chavoshzadeh Z</searchLink>; Pediatric Infectious Research Center, Mofid Children Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran.<br /><searchLink fieldCode="AU" term="%22Soler-Palacin+P%22">Soler-Palacin P</searchLink>; Pediatric Infectious Diseases and Immunodeficiencies Unit, Hospital Universitari Vall D'Hebron, Barcelona, Catalonia, Spain.<br /><searchLink fieldCode="AU" term="%22Galal+N%22">Galal N</searchLink>; Department of Pediatrics, Faculty of Medicine, Cairo University, Cairo, Egypt.<br /><searchLink fieldCode="AU" term="%22Adeli+M%22">Adeli M</searchLink>; Sidra Medicine, Weill Cornell Medicine, Hamad Medical Corporation, Doha, Qatar.<br /><searchLink fieldCode="AU" term="%22Aldave-Becerra+JC%22">Aldave-Becerra JC</searchLink>; Allergy and Immunology Division, Hospital Nacional Edgardo Rebagliati Martins, Lima, Peru.<br /><searchLink fieldCode="AU" term="%22Al-Ddafari+MS%22">Al-Ddafari MS</searchLink>; Laboratory of Applied Molecular Biology and Immunology, University of Abou-Bekr Belkaïd, Tlemcen, Algeria.<br /><searchLink fieldCode="AU" term="%22Ardenyz+Ö%22">Ardenyz Ö</searchLink>; Division of Allergy and Immunology, Department of Internal Medicine, Faculty of Medicine, Ege University, Izmir, Turkey.<br /><searchLink fieldCode="AU" term="%22Atkinson+TP%22">Atkinson TP</searchLink>; Division of Pediatric Allergy & Immunology, University of Alabama At Birmingham, Birmingham, AL, USA.<br /><searchLink fieldCode="AU" term="%22Kut+FB%22">Kut FB</searchLink>; Departmant of Pediatrics, Division of Pediatric Immunology and Allergy, Faculty of Medicine, Erciyes University, Kayseri, Turkey.<br /><searchLink fieldCode="AU" term="%22Çelmeli+F%22">Çelmeli F</searchLink>; Antalya Education and Research Hospital Department of Pediatric Immunology and Allergy, Antalya, Turkey.<br /><searchLink fieldCode="AU" term="%22Rees+H%22">Rees H</searchLink>; Bristol Royal Hospital for Children, University Hospitals Bristol NHS Foundation Trust, Bristol, UK.<br /><searchLink fieldCode="AU" term="%22Kilic+SS%22">Kilic SS</searchLink>; Faculty of Medicine, Uludag University, Bursa, Turkey.<br /><searchLink fieldCode="AU" term="%22Kirovski+I%22">Kirovski I</searchLink>; Medical Faculty Skopje, 50 Divizija BB, 1000, Skopje, Macedonia.<br /><searchLink fieldCode="AU" term="%22Klein+C%22">Klein C</searchLink>; Department of Pediatrics, Dr. Von Hauner Children's Hospital, University Hospital, LMU Munich, Munich, Germany.<br /><searchLink fieldCode="AU" term="%22Kobbe+R%22">Kobbe R</searchLink>; First Department of Medicine, Division of Infectious Diseases, University Medical Center , Hamburg-Eppendorf, Germany.<br /><searchLink fieldCode="AU" term="%22Korganow+AS%22">Korganow AS</searchLink>; UFR Médecine, Université de Strasbourg, Strasbourg, France.<br /><searchLink fieldCode="AU" term="%22Lilic+D%22">Lilic D</searchLink>; Institute of Cellular Medicine, Newcastle University, Newcastle-upon-Tyne, UK.<br /><searchLink fieldCode="AU" term="%22Lunt+P%22">Lunt P</searchLink>; Centre for Academic Child Health, University of Bristol, Bristol, UK.<br /><searchLink fieldCode="AU" term="%22Makwana+N%22">Makwana N</searchLink>; Department of Pediatrics, Sandwell and West, Birmingham Hospitals NHS Trust, Birmingham, UK.<br /><searchLink fieldCode="AU" term="%22Metin+A%22">Metin A</searchLink>; Department of Pediatric Allergy and Immunology, Ankara Children's Hematology Oncology Training and Research Hospital, Ankara, Turkey.<br /><searchLink fieldCode="AU" term="%22Özgür+TT%22">Özgür TT</searchLink>; Department of Pediatrics, Division of Immunology, Akdeniz University Medical Faculty, Antalya, Turkey.<br /><searchLink fieldCode="AU" term="%22Karakas+AA%22">Karakas AA</searchLink>; Department of Dermatology and Venerology, Akdeniz University Medical Faculty, Antalya, Turkey.<br /><searchLink fieldCode="AU" term="%22Seneviratne+S%22">Seneviratne S</searchLink>; Institute of Immunity and Transplantation, Royal Free Hospital and University College London, London, UK.<br /><searchLink fieldCode="AU" term="%22Sherkat+R%22">Sherkat R</searchLink>; Acquired Immunodeficiency Research Center, Isfahan University of Medical Sciences, Isfahan, Iran.<br /><searchLink fieldCode="AU" term="%22Sousa+AB%22">Sousa AB</searchLink>; Serviço de Genética, Hospital de Santa Maria, Centro Hospitalar Universitário Lisboa Norte, and Laboratório de Imunologia Básica, Faculdade de Medicina de Lisboa, Universidade de Lisboa, Lisboa, Portugal.<br /><searchLink fieldCode="AU" term="%22Unal+E%22">Unal E</searchLink>; Department of Pediatrics, Division of Pediatric Hematology and Oncology, Faculty of Medicine, Erciyes University, 38010, Melikgazi, Kayseri, Turkey.; Deparment of Molecular Biology and Genetics, Gevher Nesibe Genom and Stem Cell Institution, GENKOK Genome and Stem Cell Center, Erciyes University, 38010, Melikgazi, Kayseri, Turkey.<br /><searchLink fieldCode="AU" term="%22Patiroglu+T%22">Patiroglu T</searchLink>; Department of Pediatrics, Division of Pediatric Immunology, Faculty of Medicine, Erciyes University, 38010, Melikgazi, Kayseri, Turkey.<br /><searchLink fieldCode="AU" term="%22Wahn+V%22">Wahn V</searchLink>; Department of Pediatric Respiratory Medicine, Immunology and Critical Care Medicine, Charité - Universitätsmedizin Berlin, Freie Universität Berlin, Humboldt-Universität Zu Berlin, and Berlin Institute of Health, Berlin, Germany.<br /><searchLink fieldCode="AU" term="%22von+Bernuth+H%22">von Bernuth H</searchLink>; Department of Pediatric Respiratory Medicine, Immunology and Critical Care Medicine, Charité - Universitätsmedizin Berlin, Freie Universität Berlin, Humboldt-Universität Zu Berlin, and Berlin Institute of Health, Berlin, Germany.; Department of Immunology, Labor Berlin GmbH, Berlin, Germany.; Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität Zu Berlin, Berlin Institute of Health (BIH), Berlin-Brandenburg Center for Regenerative Therapies (BCRT), Berlin, Germany.; Berlin Institute of Health (BIH), Berlin, Germany.<br /><searchLink fieldCode="AU" term="%22Whiteford+M%22">Whiteford M</searchLink>; Department of Clinical Genetics, Queen Elizabeth University Hospital, Glasgow, G51 4TF, UK.<br /><searchLink fieldCode="AU" term="%22Doffinger+R%22">Doffinger R</searchLink>; Department of Clinical Biochemistry and Immunology, Addenbrooke's Hospital, Cambridge, UK.<br /><searchLink fieldCode="AU" term="%22Jouhadi+Z%22">Jouhadi Z</searchLink>; Department of Pediatric Infectious Diseases, Children's Hospital CHU Ibn Rochd, University Hassan 2, Casablanca, Morocco.<br /><searchLink fieldCode="AU" term="%22Grimbacher+B%22">Grimbacher B</searchLink>; Center for Chronic Immunodeficiency, Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, Germany. bodo.grimbacher@uniklinik-freiburg.de.; Institute for Immunodeficiency, Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, Germany. bodo.grimbacher@uniklinik-freiburg.de.; German Center for Infection Research (DZIF), Satellite Center Freiburg, Freiburg, Germany. bodo.grimbacher@uniklinik-freiburg.de.; CIBSS - Centre for Integrative Biological Signalling Studies, Albert-Ludwigs University, Freiburg, Germany. bodo.grimbacher@uniklinik-freiburg.de.; RESIST - Cluster of Excellence 2155 to Hanover Medical School, Satellite Center Freiburg, Freiburg, Germany. bodo.grimbacher@uniklinik-freiburg.de.; CCI-Center for Chronic Immunodeficiency, Universitätsklinikum Freiburg, Breisacher Straße 115, 79106, Freiburg, Germany. bodo.grimbacher@uniklinik-freiburg.de.
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