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Article

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

Clinical immunology (Orlando, Fla.) - 1 Oct 2020

Lougaris Vassilios, 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

Abstract excerpt

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.

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Identifiers

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

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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