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

Vassilios Lougaris; Manuela Baronio; Andrea Castagna; Giulio Tessarin; Stefano Rossi; Luisa Gazzurelli; Alessio Benvenuto; Daniele Moratto; Marcho Chiarini; Marco Cattalini; Mattia Facchetti; Laura Palumbo; Silvia Giliani; Maria Federica Girelli; Raffaele Badolato; Maria Pia Bondioni; Fabio Facchetti; Antonella Meini; Alessandro Plebani

doi:10.1016/j.clim.2020.108543

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

Clin Immunol. 2020 Oct:219:108543. doi: 10.1016/j.clim.2020.108543. Epub 2020 Jul 16.

Authors

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

Affiliations

¹ Paediatrics Clinic and Institute for Molecular Medicine A. Nocivelli, Department of Clinical and Experimental Sciences, University of Brescia, ASST- Spedali Civili of Brescia, Brescia, Italy. Electronic address: vlougarisbs@yahoo.com.
² Paediatrics Clinic and Institute for Molecular Medicine A. Nocivelli, Department of Clinical and Experimental Sciences, University of Brescia, ASST- Spedali Civili of Brescia, Brescia, Italy.
³ Flow Cytometry Unit, Clinical Chemistry Laboratory, ASST Spedali Civili di Brescia, Brescia, Italy.
⁴ Department of Molecular and Translational Medicine, Section of Pathology, University of Brescia, Brescia, Italy.
⁵ Pediatrics Clinic, ASST- Spedali Civili of Brescia, Brescia, Italy.
⁶ Institute for Molecular Medicine A. Nocivelli, and Department of Pathology, Laboratory of Genetic Disorders of Childhood, Department of Molecular and Translational Medicine, University of Brescia, ASST-Spedali Civili of Brescia, Brescia, Italy.
⁷ Pediatric Radiology, University of Brescia, ASST Spedali Civili di Brescia, Brescia, Italy.

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

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.

Publication types

Case Reports
Letter
Research Support, Non-U.S. Gov't

MeSH terms

Child
Class I Phosphatidylinositol 3-Kinases / genetics*
Humans
Lymphohistiocytosis, Hemophagocytic / diagnosis*
Lymphohistiocytosis, Hemophagocytic / genetics
Macrophage Activation Syndrome / diagnosis*
Macrophage Activation Syndrome / genetics
Male
Mutation
Primary Immunodeficiency Diseases / diagnosis*
Primary Immunodeficiency Diseases / genetics

Substances

Class I Phosphatidylinositol 3-Kinases
PIK3CD protein, human

Supplementary concepts

Activated PI3K-delta Syndrome