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New αIIbβ3 variants in 28 Turkish Glanzmann patients; structural hypothesis for complex activation by residues variations in I-EGF domains.

Autor: Koker, M Y, Sarper, N, Albayrak, C, Zulfikar, B, Zengin, E, Saraymen, B, Albayrak, D, Koc, B, Avcilar, H, Karakükcü, M, Chenet, C, Bianchi, F, de Brevern, A G, Petermann, R, Jallu, V

Publikováno v: Platelets; 2022, Vol. 33 Issue 4, p551-561, 11p

Immunodeficiency associated with a novel functionally defective variant of SLC19A1 benefits from folinic acid treatment.

Autor: Gök V; Department of Pediatrics, Division of Pediatric Hematology & Oncology, Faculty of Medicine, Erciyes University, Kayseri, Türkiye., Erdem Ş; Genome and Stem Cell Center (GENKOK), Erciyes University, Kayseri, Türkiye.; Department of Medical Biology, Faculty of Medicine, Erciyes University, Kayseri, Türkiye., Haliloğlu Y; Genome and Stem Cell Center (GENKOK), Erciyes University, Kayseri, Türkiye.; Department of Medical Biology, Faculty of Medicine, Erciyes University, Kayseri, Türkiye., Bişgin A; Department of Medical Genetics, Faculty of Medicine, Çukurova University, Adana, Türkiye., Belkaya S; Department of Molecular Biology and Genetics, Faculty of Science, Bilkent University, Ankara, Türkiye., Başaran KE; Department of Physiology, Faculty of Medicine, Erciyes University, Kayseri, Türkiye., Canatan MF; Genome and Stem Cell Center (GENKOK), Erciyes University, Kayseri, Türkiye., Özcan A; Department of Pediatrics, Division of Pediatric Hematology & Oncology, Faculty of Medicine, Erciyes University, Kayseri, Türkiye., Yılmaz E; Department of Pediatrics, Division of Pediatric Hematology & Oncology, Faculty of Medicine, Erciyes University, Kayseri, Türkiye., Acıpayam C; Department of Pediatrics, Division of Pediatric Hematology & Oncology, Faculty of Medicine, Sütçü İmam University, Kahramanmaraş, Türkiye., Karakükcü M; Department of Pediatrics, Division of Pediatric Hematology & Oncology, Faculty of Medicine, Erciyes University, Kayseri, Türkiye., Canatan H; Department of Medical Biology, Faculty of Medicine, Erciyes University, Kayseri, Türkiye., Per H; Department of Pediatrics, Division of Pediatric Neurology, Faculty of Medicine, Erciyes University, Kayseri, Türkiye., Patıroğlu T; Department of Pediatrics, Division of Pediatric Hematology & Oncology, Faculty of Medicine, Erciyes University, Kayseri, Türkiye.; Department of Pediatrics, Division of Pediatric Immunology, Faculty of Medicine, Erciyes University, Kayseri, Türkiye., Eken A; Genome and Stem Cell Center (GENKOK), Erciyes University, Kayseri, Türkiye. ahmet.eken@gmail.com.; Department of Medical Biology, Faculty of Medicine, Erciyes University, Kayseri, Türkiye. ahmet.eken@gmail.com., Ünal E; Department of Pediatrics, Division of Pediatric Hematology & Oncology, Faculty of Medicine, Erciyes University, Kayseri, Türkiye. drekremunal@yahoo.com.tr.; Genome and Stem Cell Center (GENKOK), Erciyes University, Kayseri, Türkiye. drekremunal@yahoo.com.tr.; Department of Blood Banking and Transfusion Medicine, Health Science Institution, Erciyes University, Kayseri, Türkiye. drekremunal@yahoo.com.tr.

Publikováno v: Genes and immunity [Genes Immun] 2023 Feb; Vol. 24 (1), pp. 12-20. Date of Electronic Publication: 2022 Dec 15.

International retrospective study of allogeneic hematopoietic cell transplantation for activated PI3K-delta syndrome.

Autor: Dimitrova D; Experimental Transplantation and Immunotherapy Branch, National Cancer Institute, National Institutes of Health, Bethesda, Md. Electronic address: dimana.dimitrova@nih.gov., Nademi Z; Children's Bone Marrow Transplant Unit, Great North Children's Hospital, Newcastle upon Tyne, United Kingdom; The Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne, United Kingdom., Maccari ME; Department of Pediatric Hematology and Oncology, Center for Pediatrics, Medical Center-University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany; Center for Chronic Immunodeficiency, Medical Center-University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany., Ehl S; Department of Pediatric Hematology and Oncology, Center for Pediatrics, Medical Center-University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany; Center for Chronic Immunodeficiency, Medical Center-University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany., Uzel G; Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Md., Tomoda T; Department of Pediatrics and Developmental Biology, Tokyo Medical and Dental University, Tokyo, Japan., Okano T; Department of Pediatrics and Developmental Biology, Tokyo Medical and Dental University, Tokyo, Japan., Imai K; Department of Community Pediatrics, Perinatal, and Maternal Medicine, Tokyo Medical and Dental University, Tokyo, Japan., Carpenter B; Department of Haematology, University College Hospital National Health Service Trust, London, United Kingdom., Ip W; Department of Immunology, Great Ormond Street Hospital for Children National Health Service Foundation Trust, London, United Kingdom; University College London Great Ormond Street Institute of Child Health, London, United Kingdom., Rao K; Department of Bone Marrow Transplantation, Great Ormond Street Hospital for Children National Health Service Foundation Trust, London, United Kingdom., Worth AJJ; Department of Immunology, Great Ormond Street Hospital for Children National Health Service Foundation Trust, London, United Kingdom; University College London Great Ormond Street Institute of Child Health, London, United Kingdom., Laberko A; Department of Immunology, Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, Moscow, Russia., Mukhina A; Department of Immunology, Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, Moscow, Russia., Néven B; Unité d'Immuno-hématologie Pédiatrique, Hôpital Necker-Enfants Malades, Assistance Publique Hôpitaux de Paris, Paris, France; Université de Paris, Paris, France; Institut Imagine, Paris, France., Moshous D; Unité d'Immuno-hématologie Pédiatrique, Hôpital Necker-Enfants Malades, Assistance Publique Hôpitaux de Paris, Paris, France; Université de Paris, Paris, France; Institut Imagine, Paris, France., Speckmann C; Department of Pediatric Hematology and Oncology, Center for Pediatrics, Medical Center-University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany; Center for Chronic Immunodeficiency, Medical Center-University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany., Warnatz K; Center for Chronic Immunodeficiency, Medical Center-University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany., Wehr C; Center for Chronic Immunodeficiency, Medical Center-University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany; Department of Medicine I, Medical Center-University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany., Abolhassani H; Division of Clinical Immunology, Department of Laboratory Medicine, Karolinska Institute at Karolinska University Hospital Huddinge, Stockholm, Sweden; Research Center for Immunodeficiencies, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran., Aghamohammadi A; Research Center for Immunodeficiencies, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran., Bleesing JJ; Division of Bone Marrow Transplantation and Immunodeficiency, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio., Dara J; Department of Pediatrics, Division of Allergy, Immunology, Blood and Marrow Transplantation, Benioff Children's Hospital, University of California San Francisco, San Francisco, Calif., Dvorak CC; Department of Pediatrics, Division of Allergy, Immunology, Blood and Marrow Transplantation, Benioff Children's Hospital, University of California San Francisco, San Francisco, Calif., Ghosh S; Department of Pediatric Oncology, Hematology and Clinical Immunology, University Hospital Düsseldorf, Düsseldorf, Germany., Kang HJ; Department of Pediatrics, Seoul National University College of Medicine, Seoul National University Cancer Research Institute, Wide River Institute of Immunology, Seoul, Korea., Markelj G; Department of Allergology, Rheumatology and Clinical Immunology, University Children's Hospital, University Medical Center, Ljubljana, Slovenia., Modi A; University of Arkansas for Medical Sciences Department of Pediatrics, Little Rock, Ark., Bayer DK; Stead Family Department of Pediatrics, University of Iowa, Iowa City, Iowa., Notarangelo LD; Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Md., Schulz A; Department of Pediatrics, University Medical Center Ulm, Ulm, Germany., Garcia-Prat M; Pediatric Infectious Diseases and Immunodeficiencies Unit, Hospital Universitari Vall d'Hebron, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain., Soler-Palacín P; Pediatric Infectious Diseases and Immunodeficiencies Unit, Hospital Universitari Vall d'Hebron, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain., Karakükcü M; Department of Pediatric Hematology and Oncology, Erciyes University, Kayseri, Turkey., Yilmaz E; Department of Pediatric Hematology and Oncology, Erciyes University, Kayseri, Turkey., Gambineri E; Department of 'NEUROFARBA': Section of Child's Health, University of Florence, Florence, Italy; Department of Haematology-Oncology: BMT Unit, 'Anna Meyer' Children's Hospital, Florence, Italy., Menconi M; Unità Operativa Oncoematologia Pediatrica, Azienda Ospedaliero Universitaria Pisana Santa Chiara, Pisa, Italy., Masmas TN; Pediatric Hematopoietic Stem Cell Transplantation and Immunodeficiency, The Child and Adolescent Clinic, Copenhagen University Hospital, Copenhagen, Denmark., Holm M; Department of Pediatrics and Adolescent Medicine, Aarhus University Hospital, Aarhus, Denmark., Bonfim C; Department of Immunology, Hospital Pequeno Principe, Curitiba, Brazil., Prando C; Faculdades Pequeno Príncipe, Instituto de Pesquisa Pelé Pequeno Príncipe, Curitiba, Brazil., Hughes S; Department of Paediatric Immunology, Royal Manchester Children's Hospital, Manchester, United Kingdom., Jolles S; Immunodeficiency Centre for Wales, University Hospital of Wales, Cardiff, United Kingdom., Morris EC; Institute of Immunity and Transplantation, University College London, London, United Kingdom., Kapoor N; Cancer and Blood Disease Institute, Children's Hospital Los Angeles, Keck School of Medicine, University of Southern California, Los Angeles, California., Koltan S; Department of Pediatric Hematology and Oncology, Collegium Medicum Bydgoszcz, Nicolaus Copernicus University, Toruń, Poland., Paneesha S; Department of Haematology and Stem Cell Transplantation, Birmingham Heartlands Hospital, Birmingham, United Kingdom., Steward C; School of Cellular and Molecular Medicine, University of Bristol, Bristol, United Kingdom., Wynn R; Department of Paediatric Immunology, Royal Manchester Children's Hospital, Manchester, United Kingdom., Duffner U; Blood and Bone Marrow Transplantation, Helen DeVos Children's Hospital, Grand Rapids, Mich; Department of Pediatrics and Human Development, Spectrum Health and Michigan State University, Grand Rapids, Mich., Gennery AR; Children's Bone Marrow Transplant Unit, Great North Children's Hospital, Newcastle upon Tyne, United Kingdom; The Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne, United Kingdom., Lankester AC; Department of Pediatrics, Willem-Alexander Children's Hospital, Leiden University Medical Center, Leiden, The Netherlands., Slatter M; Children's Bone Marrow Transplant Unit, Great North Children's Hospital, Newcastle upon Tyne, United Kingdom; The Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne, United Kingdom., Kanakry JA; Experimental Transplantation and Immunotherapy Branch, National Cancer Institute, National Institutes of Health, Bethesda, Md. Electronic address: jennifer.kanakry@nih.gov.

Publikováno v: The Journal of allergy and clinical immunology [J Allergy Clin Immunol] 2022 Jan; Vol. 149 (1), pp. 410-421.e7. Date of Electronic Publication: 2021 May 24.