CLINICAL TRIALS AND OBSERVATIONS A prospective evaluation of degranulation assays in the rapid diagnosis of familial hemophagocytic syndromes
نویسندگان
چکیده
1Centre for Infectious Medicine, Karolinska University Hospital Huddinge, Stockholm, Sweden; 2Istituto di Ricovero e Cura a Carattere Scientifico Azienda Ospedaliera Universitaria, San Martino–Istituto Nazionale per la Ricera sul Cancro, Genoa, Italy; 3Centre of Chronic Immunodeficiency, University Hospital Freiburg, Freiburg, Germany; 4Immunology, Great Ormond Street Hospital, London, United Kingdom; 5Center for Pediatrics and Adolescent Medicine, University Hospital Freiburg, Freiburg, Germany; 6Department of Pediatric Hematology and Oncology, University Hospital, Hamburg, Germany; 7Department of Pediatric Hematology and Oncology, University Children’s Hospital Münster, Münster, Germany; 8Institute of Medical Biometry and Medical Informatics, University Medical Center Freiburg, Freiburg, Germany; 9Department of Pediatric Hematology Oncology, Azienda Ospedaliero Universitaria Meyer, Florence, Italy; 10Istituto Giannina Gaslini, Genoa, Italy; and 11Childhood Cancer Research Unit, Department of Women’s and Children’s Health, Karolinska Institutet, Karolinska University Hospital Solna, Stockholm, Sweden
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CLINICAL TRIALS AND OBSERVATIONS Lethal hemophagocytic lymphohistiocytosis in Hermansky-Pudlak syndrome type II
Griscelli syndrome (GS) was diagnosed in a 2-year-old patient with oculocutaneous albinism and immunodeficiency, but sequencing of RAB27a revealed only a heterozygous mutation. Due to impaired natural killer (NK) and T-cell cytotoxicity implying a high risk of developing hemophagocytic lymphohistiocytosis (HLH), he was prepared for hematopoietic stem cell transplantation (HSCT). Unexpectedly, a...
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1Childhood Cancer Research Unit, Department of Women’s and Children’s Health, and 2Clinical Genetics Unit, Department of Molecular Medicine and Surgery, Karolinska Institutet, Karolinska University Hospital Solna, Stockholm, Sweden; 3Allergy and Clinical Immunology Unit, Department of Pediatrics, Al-Sabah Hospital, Kuwait City, Kuwait; 4Centre for Infectious Medicine, Department of Medicine, Ka...
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تاریخ انتشار 2012