Familial hemophagocytic lymphohistiocytosis type 3 presenting as neonatal cholestasis and splenomegaly.

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第一作者： Delfien,Bogaert

第一单位： Division of Pediatric Hemato-Oncology and Stem Cell Transplantation, Department of Pediatrics, Ghent University Hospital, Ghent, Belgium.;Primary Immunodeficiency Research Lab, Center for Primary Immunodeficiency Ghent, Jeffrey Modell Diagnosis and Research Center, Ghent University Hospital, Ghent, Belgium.

作者： Delfien,Bogaert ^[1] ; Ruth,De Bruyne ^[2] ; Arnaud V,Vanlander ^[3] ; Lara,Garabedian ^[4] ; Yves,Louis ^[5] ; Filomeen,Haerynck ^[6] ; Victoria,Bordon ^[7] ; Barbara,De Moerloose ^[7]

作者单位： Division of Pediatric Hemato-Oncology and Stem Cell Transplantation, Department of Pediatrics, Ghent University Hospital, Ghent, Belgium.;Primary Immunodeficiency Research Lab, Center for Primary Immunodeficiency Ghent, Jeffrey Modell Diagnosis and Research Center, Ghent University Hospital, Ghent, Belgium. ^[1] Division of Gastroenterology and Hepatology, Department of Pediatrics, Ghent University Hospital, Ghent, Belgium. ^[2] Division of Pediatric Neurology and Metabolism, Department of Pediatrics, Ghent University Hospital, Ghent, Belgium. ^[3] Neonatal Intensive Care Unit, Ghent University Hospital, Ghent, Belgium. ^[4] Department of Pediatrics, General Hospital Glorieux, Ronse, Belgium. ^[5] Primary Immunodeficiency Research Lab, Center for Primary Immunodeficiency Ghent, Jeffrey Modell Diagnosis and Research Center, Ghent University Hospital, Ghent, Belgium.;Division of Pediatric Pulmonology, Immunology and Infectious Diseases, Department of Pediatrics, Ghent University Hospital, Ghent, Belgium. ^[6] Division of Pediatric Hemato-Oncology and Stem Cell Transplantation, Department of Pediatrics, Ghent University Hospital, Ghent, Belgium. ^[7]

关键词 Munc13-4 UNC13D cholestasis familial hemophagocytic lymphohistiocytosis hemophagocytic lymphohistiocytosis neonatal

主题词胆汁淤积(Cholestasis);人类(Humans);婴儿, 新生(Infant, Newborn);淋巴组织细胞增多症, 嗜血细胞性(Lymphohistiocytosis, Hemophagocytic);膜蛋白质类(Membrane Proteins);突变(Mutation);脾大(Splenomegaly)

DOI 10.1111/pai.13774

PMID 35470934

发布时间 2022-06-01

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