Dysregulated actin dynamics in activated PI3Kδ syndrome

Dysregulated actin dynamics in activated PI3Kδ syndrome

Copyright © 2019 Elsevier Inc. All rights reserved.

Bibliographische Detailangaben
Veröffentlicht in:Clinical immunology (Orlando, Fla.). - 1999. - 210(2020) vom: 29. Jan., Seite 108311
1. Verfasser: Wallace, Jacqueline G (VerfasserIn)
Weitere Verfasser: Zambrano-Rodas, Pedro, Córdova-Calderón, Wilmer, Estrada-Turriate, Santiago, Mendoza-Quispe, Daniel, Limache Ontiveros, Yesenia, Geha, Raif S, Chou, Janet, Platt, Craig D
Format: Online-Aufsatz
Sprache:English
Veröffentlicht: 2020
Zugriff auf das übergeordnete Werk:Clinical immunology (Orlando, Fla.)
Schlagworte:Case Reports Journal Article Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't APDS Actin PI3Kδ Actins Class I Phosphatidylinositol 3-Kinases EC 2.7.1.137 PIK3CD protein, human
Beschreibung
Zusammenfassung:Copyright © 2019 Elsevier Inc. All rights reserved.
Activated PI3Kδ syndrome (APDS) Type I results from gain-of-function mutations in PIK3CD, which encodes the p110δ subunit of PI3Kδ. Abnormal actin dynamics have been hypothesized to contribute to the lymphopenia associated with this disease but have not been studied in patients with APDS. We report a patient with APDS who had widespread necrotic skin lesions that were responsive specifically to immunosuppressive therapy. EBV-transformed lymphoblastoid cells (EBV-LCLs) from patients with APDS exhibit increased polymerized actin and increased apoptosis, suggesting a contribution of impaired actin dynamics to this disease
Beschreibung:Date Completed 31.07.2020
Date Revised 22.09.2024
published: Print-Electronic
Citation Status MEDLINE
ISSN:1521-7035
DOI:10.1016/j.clim.2019.108311