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Mutations of the gene FNIP1 associated with a syndromic autosomal recessive immunodeficiency with cardiomyopathy and pre-excitation syndrome.

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第一作者： Tim,Niehues

第一单位： Centre for Child and Adolescent Health, HELIOS Klinikum, Krefeld, Germany.

作者： Tim,Niehues ^[1] ; Tuba Turul,Özgür ^[1] ; Marie,Bickes ^[2] ; Rebekka,Waldmann ^[3] ; Jennifer,Schöning ^[2] ; Jan,Bräsen ^[4] ; Christian,Hagel ^[5] ; Matthias,Ballmaier ^[6] ; Jan-Henning,Klusmann ^[7] ; Alexandra,Niedermayer ^[3] ; Ulrich,Pannicke ^[3] ; Anselm,Enders ^[8] ; Gregor,Dückers ^[1] ; Kathrin,Siepermann ^[1] ; Julyia,Hempel ^[2] ; Klaus,Schwarz ^[9] ; Dorothee,Viemann ^[2]

作者单位： Centre for Child and Adolescent Health, HELIOS Klinikum, Krefeld, Germany. ^[1] Department of Pediatric Pneumology, Allergology and Neonatology, Hannover Medical School, Hannover, Germany. ^[2] Institute for Transfusion Medicine, University of Ulm, Ulm, Germany. ^[3] Institute for Pathology, Nephropathology Section, Hannover Medical School, Hamburg, Germany. ^[4] Institute of Neuropathology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany. ^[5] Central Research Facility Cell Sorting, Hannover Medical School, Hannover, Germany. ^[6] Pediatric Hematology and Oncology, Martin-Luther-University Halle-Wittenberg, Halle, Germany.;Department of Pediatric Hematology and Oncology, Hannover Medical School, Hannover, Germany. ^[7] Department of Immunology and Infectious Disease, John Curtin School of Medical Research, Canberra, Australian Capital Territory, Australia.;Centre for Personalised Immunology, Australian National University, Canberra, Australian Capital Territory, Australia. ^[8] Institute for Transfusion Medicine, University of Ulm, Ulm, Germany.;Institute for Clinical Transfusion Medicine and Immunogenetics Ulm, German Red Cross Blood Service Baden-Wuerttemberg-Hessen, Ulm, Germany. ^[9]

关键词 B cell development cardiomyopathy immunodeficiency metabolism myopathy