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BENTA disease or CARD11 gain-of-function? A novel variant with atypical features and a literature review.

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第一作者： Letizia,Baldini

第一单位： Department of Medical and Surgical Sciences (DIMEC), University of Bologna, 40138 Bologna, Italy; Dipartimento di Scienza della Sanità Pubblica e Pediatriche, Università degli Studi di Torino, Torino, Italy. Electronic address: letizia.baldini4@unibo.it.

作者： Letizia,Baldini ^[1] ; Bärbel,Keller ^[2] ; Lisa,Dewitte ^[3] ; Chiara,Passarelli ^[4] ; Monia,Ginevrino ^[4] ; Diana,Carli ^[5] ; Davide,Montin ^[6] ; Xavier,Bossuyt ^[3] ; Klaus,Warnatz ^[7] ; Francesco,Licciardi ^[6]

作者单位： Department of Medical and Surgical Sciences (DIMEC), University of Bologna, 40138 Bologna, Italy; Dipartimento di Scienza della Sanità Pubblica e Pediatriche, Università degli Studi di Torino, Torino, Italy. Electronic address: letizia.baldini4@unibo.it. ^[1] 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. ^[2] Department of Microbiology, Immunology and Transplantation, Clinical and Diagnostic Immunology, KU Leuven, Leuven, Belgium. ^[3] Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children Hospital, IRCCS, 00146 Rome, Italy. ^[4] Dipartimento di Scienze Mediche, Università degli Studi di Torino, Torino, Italy. ^[5] Dipartimento di Scienza della Sanità Pubblica e Pediatriche, Università degli Studi di Torino, Torino, Italy; Dipartimento di Patologia e Cura del Bambino "Regina Margherita", Ospedale Infantile Regina Margherita, Torino, Italy. ^[6] 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; Department of Immunology, University Hospital Zurich, Zurich, Switzerland. ^[7]

关键词 BENTA disease CARD11 HLH