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 PIK3CD gene. We reviewed for the first time medical records and laboratory data of eight Italian APDS-1 patients. Recurrent sinopulmo...

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Detalles Bibliográficos
Autores principales: Tessarin, Giulio, Rossi, Stefano, Baronio, Manuela, Gazzurelli, Luisa, Colpani, Michael, Benvenuto, Alessio, Zunica, Fiammetta, Cardinale, Fabio, Martire, Baldassarre, Brescia, Letizia, Costagliola, Giorgio, Luti, Laura, Casazza, Gabriella, Menconi, Maria Cristina, Saettini, Francesco, Palumbo, Laura, Girelli, Maria Federica, Badolato, Raffaele, Lanzi, Gaetana, Chiarini, Marco, Moratto, Daniele, Meini, Antonella, Giliani, Silvia, Bondioni, Maria Pia, Plebani, Alessandro, Lougaris, Vassilios
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7603210/
https://www.ncbi.nlm.nih.gov/pubmed/33080915
http://dx.doi.org/10.3390/jcm9103335

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