Literature DB >> 32681977

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

Vassilios Lougaris1, Manuela Baronio2, Andrea Castagna2, Giulio Tessarin2, Stefano Rossi2, Luisa Gazzurelli2, Alessio Benvenuto2, Daniele Moratto3, Marcho Chiarini3, Marco Cattalini2, Mattia Facchetti4, Laura Palumbo5, Silvia Giliani6, Maria Federica Girelli5, Raffaele Badolato2, Maria Pia Bondioni7, Fabio Facchetti4, Antonella Meini5, Alessandro Plebani2.   

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.
Copyright © 2020 Elsevier Inc. All rights reserved.

Entities:  

Keywords:  APDS-1; HLH; MAS; p110δ

Year:  2020        PMID: 32681977     DOI: 10.1016/j.clim.2020.108543

Source DB:  PubMed          Journal:  Clin Immunol        ISSN: 1521-6616            Impact factor:   3.969


  2 in total

1.  Transcriptomic Analysis of Circulating Leukocytes Obtained during the Recovery from Clinical Mastitis Caused by Escherichia coli in Holstein Dairy Cows.

Authors:  Zhangrui Cheng; Sergio Palma-Vera; Laura Buggiotti; Mazdak Salavati; Frank Becker; Dirk Werling; D Claire Wathes
Journal:  Animals (Basel)       Date:  2022-08-21       Impact factor: 3.231

Review 2.  Activated PI3Kinase Delta Syndrome-A Multifaceted Disease.

Authors:  Romane Thouenon; Nidia Moreno-Corona; Lucie Poggi; Anne Durandy; Sven Kracker
Journal:  Front Pediatr       Date:  2021-06-25       Impact factor: 3.418

  2 in total

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