Activated Phosphoinositide 3-Kinase Delta Syndrome 1: Clinical and Immunological Data from an Italian Cohort of Patients

Activated Phosphoinositide 3-Kinase Delta Syndrome 1: Clinical and Immunological Data from an Italian Cohort of Patients

Activated phosphoinositide 3-kinase delta syndrome 1 (APDS-1) is a recently described inborn error of immunity caused by monoallelic gain-of-function mutations in the <i>PIK3CD</i> gene. We reviewed for the first time medical records and laboratory data of eight Italian APDS-1 patients....

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Bibliographic Details
Main Authors: Giulio Tessarin, Stefano Rossi, Manuela Baronio, Luisa Gazzurelli, Michael Colpani, Alessio Benvenuto, Fiammetta Zunica, Fabio Cardinale, Baldassarre Martire, Letizia Brescia, Giorgio Costagliola, Laura Luti, Gabriella Casazza, Maria Cristina Menconi, Francesco Saettini, Laura Palumbo, Maria Federica Girelli, Raffaele Badolato, Gaetana Lanzi, Marco Chiarini, Daniele Moratto, Antonella Meini, Silvia Giliani, Maria Pia Bondioni, Alessandro Plebani, Vassilios Lougaris
Format: Article
Language:English
Published: MDPI AG 2020-10-01
Series:Journal of Clinical Medicine
Subjects:
activated phosphoinositide 3-kinase delta syndrome 1
lymphoproliferation
primary combined immune deficiency
p110δ
<i>PIK3CD</i>
PI3K
Online Access:https://www.mdpi.com/2077-0383/9/10/3335

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https://www.mdpi.com/2077-0383/9/10/3335

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