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Autosomal dominant gain of function STAT1 mutation and severe bronchiectasis.

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第一作者： Oded,Breuer

第一单位： Department of Pediatrics and Pediatric Pulmonary Unit, Hadassah-Hebrew University Medical Center, Jerusalem 91120, Israel. Electronic address: odedbr@hadassah.org.il.

作者： Oded,Breuer ^[1] ; Hagit,Daum ^[2] ; Malena,Cohen-Cymberknoh ^[3] ; Susanne,Unger ^[4] ; David,Shoseyov ^[3] ; Polina,Stepensky ^[5] ; Baerbel,Keller ^[6] ; Klaus,Warnatz ^[6] ; Eitan,Kerem ^[3]

作者单位： Department of Pediatrics and Pediatric Pulmonary Unit, Hadassah-Hebrew University Medical Center, Jerusalem 91120, Israel. Electronic address: odedbr@hadassah.org.il. ^[1] Monique and Jacques Roboh Department of Genetic Research, Hadassah-Hebrew University Medical Center, Jerusalem 91120, Israel. ^[2] Department of Pediatrics and Pediatric Pulmonary Unit, Hadassah-Hebrew University Medical Center, Jerusalem 91120, Israel. ^[3] Center for Chronic Immunodeficiency (CCI), Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, 79106 Freiburg, Germany; University of Freiburg, Faculty of Biology, Schaenzlestrasse 1, 79104 Freiburg, Germany. ^[4] Department of Pediatric Hematology-Oncology and Bone Marrow Transplantation, Hadassah-Hebrew University Medical Center, Jerusalem 91120, Israel. ^[5] Center for Chronic Immunodeficiency (CCI), Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, 79106 Freiburg, Germany. ^[6]

关键词 Autosomal dominant gain-of-function STAT1 mutations (AD-GOF STAT1 mutations)Bronchiectasis Chronic mucocutaneous candidiasis Memory B cells