Reduced G protein signaling despite impaired internalization and β-arrestin recruitment in patients carrying a CXCR4Leu317fsX3 mutation causing WHIM syndrome

Reduced G protein signaling despite impaired internalization and β-arrestin recruitment in patients carrying a CXCR4Leu317fsX3 mutation causing WHIM syndrome

WHIM syndrome is an inherited immune disorder caused by an autosomal dominant heterozygous mutation in CXCR4. The disease is characterized by neutropenia/leukopenia (secondary to retention of mature neutrophils in bone marrow), recurrent bacterial infections, treatment-refractory warts, and hypogamm...

Full description

Bibliographic Details
Main Authors: Rajesh Kumar, Samantha Milanesi, Martyna Szpakowska, Laura Dotta, Dario Di Silvestre, Anna Maria Trotta, Anna Maria Bello, Mauro Giacomelli, Manuela Benedito, Joana Azevedo, Alexandra Pereira, Emilia Cortesao, Alessandro Vacchini, Alessandra Castagna, Marinella Pinelli, Daniele Moratto, Raffaella Bonecchi, Massimo Locati, Stefania Scala, Andy Chevigné, Elena M. Borroni, Raffaele Badolato
Format: Article
Language:English
Published: American Society for Clinical investigation 2023-03-01
Series:JCI Insight
Subjects:
Cell biology
Immunology
Online Access:https://doi.org/10.1172/jci.insight.145688

Internet

https://doi.org/10.1172/jci.insight.145688

Similar Items