A novel monoallelic gain of function mutation in p110δ causing atypical activated phosphoinositide 3-kinase δ syndrome (APDS-1)

Autor: Lougaris, Vassilios, Baronio, Manuela, Moratto, Daniele, Tampella, Giacomo, Gazzurelli, Luisa, Facchetti, Mattia, Martire, Baldassarre, Cardinale, Fabio, Lanzarotto, Francesco, Bondioni, Maria Pia, Villanacci, Vincenzo, Grimbacher, Bodo, Plebani, Alessandro
Zdroj: In Clinical Immunology March 2019 200:31-34
Databáze: ScienceDirect