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

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

Copyright © 2019 Elsevier Inc. All rights reserved.

Bibliographische Detailangaben
Veröffentlicht in:Clinical immunology (Orlando, Fla.). - 1999. - 200(2019) vom: 08. März, Seite 31-34
1. Verfasser: Lougaris, Vassilios (VerfasserIn)
Weitere Verfasser: 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
Format: Online-Aufsatz
Sprache:English
Veröffentlicht: 2019
Zugriff auf das übergeordnete Werk:Clinical immunology (Orlando, Fla.)
Schlagworte:Case Reports Letter Research Support, Non-U.S. Gov't APDS-1 B cells Bone marrow Hypogammaglobulinemia T cells p110δ Class I Phosphatidylinositol 3-Kinases mehr... EC 2.7.1.137 PIK3CD protein, human
Beschreibung
Zusammenfassung:Copyright © 2019 Elsevier Inc. All rights reserved.
This study reports on a novel activating p110δ mutation causing adult-onset hypogammaglobulinemia with lymphopenia without the classical presentation of atypical Activated phosphoinositide 3-kinase δ syndrome (ADPS-1), underlining thus the heterogeneous clinical and immunological presentation of p110δ mutated individuals and offers additional data on the role of p110δ in early and late B cell development in humans
Beschreibung:Date Completed 31.12.2019
Date Revised 31.12.2019
published: Print-Electronic
Citation Status MEDLINE
ISSN:1521-7035
DOI:10.1016/j.clim.2019.01.003