Case Report: A Novel Pathogenic Missense Mutation in <i>FAS</i>: A Multi-Generational Case Series of Autoimmune Lymphoproliferative Syndrome.

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第一作者： Claudia L,Gaefke

第一单位： Department of Medicine, University of South Florida, Tampa, FL, United States.

作者： Claudia L,Gaefke ^[1] ; Jonathan,Metts ^[2] ; Donya,Imanirad ^[1] ; Daime,Nieves ^[3] ; Paola,Terranova ^[4] ; Gianluca,Dell'Orso ^[4] ; Eleonora,Gambineri ^[5] ; Maurizio,Miano ^[4] ; Richard F,Lockey ^[1] ; Jolan Eszter,Walter ^[6] ; Emma,Westermann-Clark ^[7]

作者单位： Department of Medicine, University of South Florida, Tampa, FL, United States. ^[1] Cancer and Blood Disorders Institute, Johns Hopkins All Children's Hospital, Saint Petersburg, FL, United States. ^[2] Department of Pediatrics, University of South Florida, Saint Petersburg, FL, United States. ^[3] Hematology Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy. ^[4] NEUROFARBA, Meyer Children's Hospital, Florence, Italy. ^[5] Department of Pediatrics, University of South Florida, Saint Petersburg, FL, United States.;Massachusetts General Hospital and Harvard Medical School, Boston, MA, United States. ^[6] Department of Medicine, University of South Florida, Tampa, FL, United States.;Department of Pediatrics, University of South Florida, Saint Petersburg, FL, United States. ^[7]

关键词 ALPS (autoimmune lymphoproliferative syndrome)Fas cytopenia lymphoproliferation novel mutation

DOI 10.3389/fped.2021.624116

PMID 33816397

发布时间 2021-04-06

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Frontiers in pediatrics

2021年9卷

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Case Report: A Novel Pathogenic Missense Mutation in <i>FAS</i>: A Multi-Generational Case Series of Autoimmune Lymphoproliferative Syndrome.

Frontiers in pediatrics

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Frontiers in pediatrics

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Case Report: A Novel Pathogenic Missense Mutation in <i>FAS</i>: A Multi-Generational Case Series of Autoimmune Lymphoproliferative Syndrome.

Frontiers in pediatrics

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Frontiers in pediatrics

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