Paediatric MAS/HLH caused by a novel monoallelic activating mutation in p110δ

Paediatric MAS/HLH caused by a novel monoallelic activating mutation in p110δ

Copyright © 2020 Elsevier Inc. All rights reserved.

Bibliographische Detailangaben
Veröffentlicht in:Clinical immunology (Orlando, Fla.). - 1999. - 219(2020) vom: 10. Okt., Seite 108543
1. Verfasser: Lougaris, Vassilios (VerfasserIn)
Weitere Verfasser: Baronio, Manuela, Castagna, Andrea, Tessarin, Giulio, Rossi, Stefano, Gazzurelli, Luisa, Benvenuto, Alessio, Moratto, Daniele, Chiarini, Marcho, Cattalini, Marco, Facchetti, Mattia, Palumbo, Laura, Giliani, Silvia, Girelli, Maria Federica, Badolato, Raffaele, Bondioni, Maria Pia, Facchetti, Fabio, Meini, Antonella, Plebani, Alessandro
Format: Online-Aufsatz
Sprache:English
Veröffentlicht: 2020
Zugriff auf das übergeordnete Werk:Clinical immunology (Orlando, Fla.)
Schlagworte:Case Reports Letter Research Support, Non-U.S. Gov't APDS-1 HLH MAS p110δ Class I Phosphatidylinositol 3-Kinases EC 2.7.1.137 PIK3CD protein, human
Beschreibung
Zusammenfassung:Copyright © 2020 Elsevier Inc. All rights reserved.
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
Beschreibung:Date Completed 17.05.2021
Date Revised 17.05.2021
published: Print-Electronic
Citation Status MEDLINE
ISSN:1521-7035
DOI:10.1016/j.clim.2020.108543