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Impact of interruption of CFTR modulator therapies

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Genomic Spectrum And Phenotypic Heterogeneity Of Human Il-21 Receptor Deficiency

Autor: Cagdas, Deniz, Mayr, Daniel, Baris, Safa, Worley, Lisa, Langley, David B., Metin, Ayse, Aytekin, Elif Soyak, Atan, Raziye, Kasap, Nurhan, Bal, Sevgi Koestel, Dmytrus, Jasmin, Heredia, Raul Jimenez, Karasu, Gulsun, Torun, Selda Hancerli, Toyran, Muge, Karakoc-Aydiner, Elif, Christ, Daniel, Kuskonmaz, Baris, Uckan-Cetinkaya, Duygu, Uner, Aysegul

Biallelic inactivating mutations in IL21R causes a combined immunodeficiency that is often complicated by cryptosporidium infections. While eight IL-21R-deficient patients have been reported previously, the natural course, immune characteristics of d

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=r39c86a4b39b::73d2d30e9d1bcb7732de5016c982b489
https://aperta.ulakbim.gov.tr/record/238594

Genomic spectrum and phenotypic heterogeneity of human IL-21 receptor deficiency

Autor: Elif Karakoc-Aydiner, Safa Baris, Felicitas Oberndorfer, Klaus Warnatz, Kaan Boztug, Deniz Cagdas, Selda Hançerli Törün, Lisa Worley, Ahmet Ozen, Müge Toyran, Polina Stepensky, Daniel Christ, Sevgi Köstel Bal, Daniel Mayr, Ozden Sanal, Anne Durandy, Elif Soyak Aytekin, Stuart G. Tangye, Raziye Atan, Ayşe Metin, Jasmin Dmytrus, Aysegul Uner, Ana-Iris Schiefer, Gülsün Karasu, Gulbu Uzel, David B. Langley, Bénédicte Neven, Ilhan Tezcan, Raul Jimenez Heredia, Baerbel Keller, Elissa K. Deenick, Cindy S. Ma, Baris Kuskonmaz, Duygu Uckan-Cetinkaya, Nurhan Kasap

Publikováno v: Journal of Clinical Immunology

Biallelic inactivating mutations in IL21R causes a combined immunodeficiency that is often complicated by cryptosporidium infections. While eight IL-21R-deficient patients have been reported previously, the natural course, immune characteristics of d

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::707bebf6a90121c9896813f4ae1469a2
https://hdl.handle.net/20.500.12713/1715

Genomic Spectrum and Phenotypic Heterogeneity of Human IL-21 Receptor Deficiency.

Autor: Cagdas D; Division of Pediatric Immunology, Department of Pediatrics, İhsan Doğramacı Children's Hospital, Hacettepe University Medical Faculty, Ankara, Turkey. deniz.ayvaz@hacettepe.edu.tr.; Section of Pediatric Immunology, Institutes of Child Health, Health Science Institute, Hacettepe University, Ankara, Turkey. deniz.ayvaz@hacettepe.edu.tr., Mayr D; 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., Baris S; Department of Pediatric Allergy and Immunology, Marmara University Faculty of Medicine, İstanbul, Turkey.; Istanbul Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies, Istanbul, Turkey.; The Isil Berat Barlan Center for Translational Medicine, Istanbul, Turkey., Worley L; Garvan Institute of Medical Research, 384 Victoria Street, Darlinghurst, NSW, 2010, Australia.; St Vincent's Clinical School, Faculty of Medicine, UNSW, Sydney, Australia., Langley DB; St Vincent's Clinical School, Faculty of Medicine, UNSW, Sydney, Australia., Metin A; Department of Pediatric Immunology, Ankara City Hospital, University of Health Sciences, Ankara, Turkey., Aytekin ES; Division of Pediatric Immunology, Department of Pediatrics, İhsan Doğramacı Children's Hospital, Hacettepe University Medical Faculty, Ankara, Turkey., Atan R; Department of Pediatrics, Hacettepe University Medical Faculty, 1031, Ankara, Turkey., Kasap N; Department of Pediatric Allergy and Immunology, Marmara University Faculty of Medicine, İstanbul, Turkey.; Istanbul Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies, Istanbul, Turkey.; The Isil Berat Barlan Center for Translational Medicine, Istanbul, Turkey., Bal SK; 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., Dmytrus J; 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., Heredia RJ; 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.; Department of Pediatrics and Adolescent Medicine, Medical University of Vienna, Vienna, Austria., Karasu G; School of Medicine, Goztepe Medicalpark Hospital, Pediatric stem Cell Transplantation Unit, İstinye University, İstanbul, Turkey., Torun SH; İstanbul Medical Faculty, Pediatric Infectious Disease, Istanbul University, İstanbul, Turkey., Toyran M; Department of Pediatric Immunology, Ankara City Hospital, University of Health Sciences, Ankara, Turkey., Karakoc-Aydiner E; Department of Pediatric Allergy and Immunology, Marmara University Faculty of Medicine, İstanbul, Turkey.; Istanbul Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies, Istanbul, Turkey.; The Isil Berat Barlan Center for Translational Medicine, Istanbul, Turkey., Christ D; Garvan Institute of Medical Research, 384 Victoria Street, Darlinghurst, NSW, 2010, Australia.; St Vincent's Clinical School, Faculty of Medicine, UNSW, Sydney, Australia., Kuskonmaz B; Department of Pediatrics, Division of Pediatric Hematology, Hacettepe University Medical School, Ankara, Turkey., Uçkan-Çetinkaya D; Department of Pediatrics, Division of Pediatric Hematology, Hacettepe University Medical School, Ankara, Turkey., Uner A; Department of Pathology, Hacettepe University Medical School, Ankara, Turkey., Oberndorfer F; Department of Pathology, Medical University of Vienna, Vienna, Austria., Schiefer AI; Department of Pathology, Medical University of Vienna, Vienna, Austria., Uzel G; Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA., Deenick EK; Garvan Institute of Medical Research, 384 Victoria Street, Darlinghurst, NSW, 2010, Australia.; St Vincent's Clinical School, Faculty of Medicine, UNSW, Sydney, Australia., Keller B; Department of Rheumatology and Clinical Immunology, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.; Center for Chronic Immunodeficiency (CCI), Medical Center-University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany., Warnatz K; Department of Rheumatology and Clinical Immunology, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.; Center for Chronic Immunodeficiency (CCI), Medical Center-University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany., Neven B; Department of Pediatric Immunology, Hematology and Rheumatology, Necker Children Hospital, Paris, France., Durandy A; Laboratory of Human Lymphohematopoiesis, Imagine Institute, INSERM UMR 1163, Université de Paris, Paris, France., Sanal O; Division of Pediatric Immunology, Department of Pediatrics, İhsan Doğramacı Children's Hospital, Hacettepe University Medical Faculty, Ankara, Turkey.; Section of Pediatric Immunology, Institutes of Child Health, Health Science Institute, Hacettepe University, Ankara, Turkey., Ma CS; Garvan Institute of Medical Research, 384 Victoria Street, Darlinghurst, NSW, 2010, Australia.; St Vincent's Clinical School, Faculty of Medicine, UNSW, Sydney, Australia., Özen A; Department of Pediatric Allergy and Immunology, Marmara University Faculty of Medicine, İstanbul, Turkey.; Istanbul Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies, Istanbul, Turkey.; The Isil Berat Barlan Center for Translational Medicine, Istanbul, Turkey., Stepensky P; Department of Bone Marrow Transplantation, Hadassah Medical Center and Faculty of Medicine Hebrew University of Jerusalem, Jerusalem, Israel., Tezcan I; Division of Pediatric Immunology, Department of Pediatrics, İhsan Doğramacı Children's Hospital, Hacettepe University Medical Faculty, Ankara, Turkey.; Section of Pediatric Immunology, Institutes of Child Health, Health Science Institute, Hacettepe University, Ankara, Turkey., Boztug K; Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases, Vienna, Austria. kaan.boztug@ccri.at.; St. Anna Children's Cancer Research Institute (CCRI), Vienna, Austria. kaan.boztug@ccri.at.; CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna, Austria. kaan.boztug@ccri.at.; Department of Pediatrics and Adolescent Medicine, Medical University of Vienna, Vienna, Austria. kaan.boztug@ccri.at.; St. Anna Children's Hospital, Department of Pediatrics and Adolescent Medicine, Medical University of Vienna, Vienna, Austria. kaan.boztug@ccri.at., Tangye SG; Garvan Institute of Medical Research, 384 Victoria Street, Darlinghurst, NSW, 2010, Australia. s.tangye@garvan.org.au.; St Vincent's Clinical School, Faculty of Medicine, UNSW, Sydney, Australia. s.tangye@garvan.org.au.

Publikováno v: Journal of clinical immunology [J Clin Immunol] 2021 Aug; Vol. 41 (6), pp. 1272-1290. Date of Electronic Publication: 2021 Apr 30.