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Paediatric MAS/HLH caused by a novel monoallelic activating mutation in p110δ.
Clinical Immunology ( IF 8.6 ) Pub Date : 2020-07-16 , DOI: 10.1016/j.clim.2020.108543 Vassilios Lougaris 1 , Manuela Baronio 1 , Andrea Castagna 1 , Giulio Tessarin 1 , Stefano Rossi 1 , Luisa Gazzurelli 1 , Alessio Benvenuto 1 , Daniele Moratto 2 , Marcho Chiarini 2 , Marco Cattalini 1 , Mattia Facchetti 3 , Laura Palumbo 4 , Silvia Giliani 5 , Maria Federica Girelli 4 , Raffaele Badolato 1 , Maria Pia Bondioni 6 , Fabio Facchetti 3 , Antonella Meini 4 , Alessandro Plebani 1
中文翻译：
小儿MAS / HLH是由p110δ中一个新的单等位基因激活突变引起的。
更新日期：2020-07-30
Clinical Immunology ( IF 8.6 ) Pub Date : 2020-07-16 , DOI: 10.1016/j.clim.2020.108543 Vassilios Lougaris 1 , Manuela Baronio 1 , Andrea Castagna 1 , Giulio Tessarin 1 , Stefano Rossi 1 , Luisa Gazzurelli 1 , Alessio Benvenuto 1 , Daniele Moratto 2 , Marcho Chiarini 2 , Marco Cattalini 1 , Mattia Facchetti 3 , Laura Palumbo 4 , Silvia Giliani 5 , Maria Federica Girelli 4 , Raffaele Badolato 1 , Maria Pia Bondioni 6 , Fabio Facchetti 3 , Antonella Meini 4 , Alessandro Plebani 1
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This study provides evidence for the first time for APDS-1 presenting as MAS/HLH, with evident clinical implications in patient's management and prognosis.
中文翻译：
小儿MAS / HLH是由p110δ中一个新的单等位基因激活突变引起的。
这项研究为APDS-1首次以MAS / HLH形式提供证据，对患者的治疗和预后具有明显的临床意义。
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