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Severe disseminated mycobacterial infection in a boy with a novel mutation leading to IFN-γR2 deficiency

Autor: Kilic, Sara Sebnem ^a, van Wengen, Annelies ^b, de Paus, Roelof A. ^b, Celebi, Solmaz ^c, Meziane, Bouchra ^b, Hafizoglu, Demet ^a, van Dissel, Jaap T. ^b, van de Vosse, Esther ^{b, ∗}

Publikováno v: In Journal of Infection December 2012 65(6):568-572

Ruxolitinib treatment ameliorates clinical, immunologic, and transcriptomic aberrations in patients with STAT3 gain-of-function disease.

Autor: Bayram Catak F; Division of Pediatric Allergy and Immunology, Faculty of Medicine, Marmara University, Istanbul, Turkey; Istanbul Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies, Istanbul, Turkey; Isil Berat Barlan Center for Translational Medicine, Istanbul, Turkey., Catak MC; Division of Pediatric Allergy and Immunology, Faculty of Medicine, Marmara University, Istanbul, Turkey; Istanbul Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies, Istanbul, Turkey; Isil Berat Barlan Center for Translational Medicine, Istanbul, Turkey., Babayeva R; Division of Pediatric Allergy and Immunology, Faculty of Medicine, Marmara University, Istanbul, Turkey; Istanbul Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies, Istanbul, Turkey; Isil Berat Barlan Center for Translational Medicine, Istanbul, Turkey., Toubia J; Centre for Cancer Biology, University of South Australia and the SA Pathology, Adelaide, Australia; Data and Bioinformatics Innovation, Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, Australia., Warnock NI; Centre for Cancer Biology, University of South Australia and the SA Pathology, Adelaide, Australia; Data and Bioinformatics Innovation, Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, Australia., Celmeli F; Division of Pediatric Allergy and Immunology, Antalya Training and Research Hospital, Health Sciences University, Antalya, Turkey., Hafizoglu D; Division of Pediatric Allergy and Immunology, Dortcelik Children's Diseases Hospital, Ministry of Health, Bursa, Turkey., Yakici N; Division of Pediatric Allergy and Immunology, Faculty of Medicine, Karadeniz Technical University, Trabzon, Turkey., Kayaoglu B; Department of Biological Sciences, Middle East Technical University, Ankara, Turkey., Surucu N; Department of Biological Sciences, Middle East Technical University, Ankara, Turkey., Yalcin Gungoren E; Division of Pediatric Allergy and Immunology, Faculty of Medicine, Marmara University, Istanbul, Turkey; Istanbul Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies, Istanbul, Turkey; Isil Berat Barlan Center for Translational Medicine, Istanbul, Turkey., Can S; Division of Pediatric Allergy and Immunology, Faculty of Medicine, Marmara University, Istanbul, Turkey; Istanbul Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies, Istanbul, Turkey; Isil Berat Barlan Center for Translational Medicine, Istanbul, Turkey., Yorgun Altunbas M; Division of Pediatric Allergy and Immunology, Faculty of Medicine, Marmara University, Istanbul, Turkey; Istanbul Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies, Istanbul, Turkey; Isil Berat Barlan Center for Translational Medicine, Istanbul, Turkey., Karakus IS; Division of Pediatric Allergy and Immunology, Faculty of Medicine, Marmara University, Istanbul, Turkey; Istanbul Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies, Istanbul, Turkey; Isil Berat Barlan Center for Translational Medicine, Istanbul, Turkey., Kiykim A; Division of Pediatric Allergy and Immunology, Cerrahpasa Faculty of Medicine, Istanbul University-Cerrahpasa, Istanbul, Turkey., Orhan F; Division of Pediatric Allergy and Immunology, Faculty of Medicine, Karadeniz Technical University, Trabzon, Turkey., Bilgic Eltan S; Division of Pediatric Allergy and Immunology, Faculty of Medicine, Marmara University, Istanbul, Turkey; Istanbul Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies, Istanbul, Turkey; Isil Berat Barlan Center for Translational Medicine, Istanbul, Turkey., Karakoc-Aydiner E; Division of Pediatric Allergy and Immunology, Faculty of Medicine, Marmara University, Istanbul, Turkey; Istanbul Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies, Istanbul, Turkey; Isil Berat Barlan Center for Translational Medicine, Istanbul, Turkey., Ozen A; Division of Pediatric Allergy and Immunology, Faculty of Medicine, Marmara University, Istanbul, Turkey; Istanbul Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies, Istanbul, Turkey; Isil Berat Barlan Center for Translational Medicine, Istanbul, Turkey., 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., Gursel M; Izmir Biomedicine and Genome Center, Izmir, Turkey., Kok CH; Centre for Cancer Biology, University of South Australia and the SA Pathology, Adelaide, Australia; Data and Bioinformatics Innovation, Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, Australia; Adelaide Medical School, University of Adelaide, Adelaide, Australia., Cildir G; Centre for Cancer Biology, University of South Australia and the SA Pathology, Adelaide, Australia., Baris S; Division of Pediatric Allergy and Immunology, Faculty of Medicine, Marmara University, Istanbul, Turkey; Istanbul Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies, Istanbul, Turkey; Isil Berat Barlan Center for Translational Medicine, Istanbul, Turkey. Electronic address: safabaris@hotmail.com.

Publikováno v: The Journal of allergy and clinical immunology [J Allergy Clin Immunol] 2024 Dec 02. Date of Electronic Publication: 2024 Dec 02.