Reduced G protein signaling despite impaired internalization and β-arrestin recruitment in patients carrying a CXCR4(Leu317fsX3) 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...

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Detalles Bibliográficos
Autores principales: Kumar, Rajesh, Milanesi, Samantha, Szpakowska, Martyna, Dotta, Laura, Di Silvestre, Dario, Trotta, Anna Maria, Bello, Anna Maria, Giacomelli, Mauro, Benedito, Manuela, Azevedo, Joana, Pereira, Alexandra, Cortesao, Emilia, Vacchini, Alessandro, Castagna, Alessandra, Pinelli, Marinella, Moratto, Daniele, Bonecchi, Raffaella, Locati, Massimo, Scala, Stefania, Chevigné, Andy, Borroni, Elena M., Badolato, Raffaele
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Society for Clinical Investigation 2023
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10077478/
https://www.ncbi.nlm.nih.gov/pubmed/36883568
http://dx.doi.org/10.1172/jci.insight.145688

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