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Case Reports
. 2020 Oct:219:108543.
doi: 10.1016/j.clim.2020.108543. Epub 2020 Jul 16.

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

Vassilios Lougaris  1 , Manuela Baronio  2 , Andrea Castagna  2 , Giulio Tessarin  2 , Stefano Rossi  2 , Luisa Gazzurelli  2 , Alessio Benvenuto  2 , Daniele Moratto  3 , Marcho Chiarini  3 , Marco Cattalini  2 , Mattia Facchetti  4 , Laura Palumbo  5 , Silvia Giliani  6 , Maria Federica Girelli  5 , Raffaele Badolato  2 , Maria Pia Bondioni  7 , Fabio Facchetti  4 , Antonella Meini  5 , Alessandro Plebani  2
Affiliations
Case Reports

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

Vassilios Lougaris et al. Clin Immunol. 2020 Oct.

Abstract

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.

Keywords: APDS-1; HLH; MAS; p110δ.

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Conflict of interest statement

Declaration of Competing Interest The authors declare no conflict of interest.

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