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Mutations at the C-terminus of CDC42 cause distinct hematopoietic and autoinflammatory disorders.

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第一作者： Simona,Coppola

第一单位： National Centre Rare Diseases, Istituto Superiore di Sanità, Rome, Italy.

作者： Simona,Coppola ^[1] ; Antonella,Insalaco ^[2] ; Erika,Zara ^[3] ; Martina,Di Rocco ^[4] ; Denise Pires,Marafon ^[2] ; Francesca,Spadaro ^[5] ; Luca,Pannone ^[6] ; Luciapia,Farina ^[2] ; Luca,Pasquini ^[5] ; Simone,Martinelli ^[7] ; Fabrizio,De Benedetti ^[8] ; Marco,Tartaglia ^[9]

作者单位： National Centre Rare Diseases, Istituto Superiore di Sanità, Rome, Italy. ^[1] Division of Rheumatology, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy. ^[2] Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy; Department of Biology and Biotechnology "Charles Darwin," "Sapienza" University of Rome, Rome, Italy. ^[3] Department of Oncology and Molecular Medicine, Istituto Superiore di Sanità, Rome, Italy; Department of Human Neuroscience, "Sapienza" University of Rome, Rome, Italy. ^[4] Core Facilities, Istituto Superiore di Sanità, Rome, Italy. ^[5] Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy. ^[6] Department of Oncology and Molecular Medicine, Istituto Superiore di Sanità, Rome, Italy. ^[7] Division of Rheumatology, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy. Electronic address: fabrizio.debenedetti@opbg.net. ^[8] Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy. Electronic address: marco.tartaglia@opbg.net. ^[9]

关键词 CDC42 Golgi apparatus HLH MAS NOCARH syndrome anakinra autoinflammation cytopenia emapalumab palmitoylation

主题词血细胞生成(Hematopoiesis);人类(Humans);免疫系统疾病(Immune System Diseases);婴儿, 新生(Infant, Newborn);淋巴组织细胞增多症, 嗜血细胞性(Lymphohistiocytosis, Hemophagocytic);突变(Mutation);cdc42 GTP结合蛋白质(cdc42 GTP-Binding Protein)

DOI 10.1016/j.jaci.2022.01.024

PMID 35157921

发布时间 2025-11-12

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