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

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Title: Reduced G protein signaling despite impaired internalization and β-arrestin recruitment in patients carrying a CXCR4Leu317fsX3 mutation causing WHIM syndrome.
Authors: Kumar R; 'Angelo Nocivelli' Institute for Molecular Medicine, University of Brescia, Brescia, Italy.; Rheumatology and Clinical Immunology, Azienda Socio Sanitaria Territoriale (ASST) Spedali Civili, Brescia, Italy., Milanesi S; Department of Medical Biotechnology and Translational Medicine, University of Milan, Milan, Italy.; IRCCS Humanitas Research Hospital, Rozzano, Milan, Italy., Szpakowska M; Department of Infection and Immunity, Immuno-Pharmacology and Interactomics, Luxembourg Institute of Health, Esch-sur-Alzette, Luxembourg., Dotta L; 'Angelo Nocivelli' Institute for Molecular Medicine, University of Brescia, Brescia, Italy.; Department of Pediatrics, ASST Spedali Civili, Brescia, Italy.; Department of Clinical and Experimental Sciences, University of Brescia, ASST Spedali Civili, Brescia, Italy., Di Silvestre D; Institute for Biomedical Technologies-National Research Council (ITB-CNR), Segrate, Milan, Italy., Trotta AM; Microenvironment Molecular Targets, Istituto Nazionale Tumori-IRCCS-Fondazione G. Pascale, Naples, Italy., Bello AM; Microenvironment Molecular Targets, Istituto Nazionale Tumori-IRCCS-Fondazione G. Pascale, Naples, Italy., Giacomelli M; 'Angelo Nocivelli' Institute for Molecular Medicine, University of Brescia, Brescia, Italy., Benedito M; Department of Clinical Hematology, Pediatric Hospital, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal., Azevedo J; Department of Clinical Hematology, Pediatric Hospital, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal., Pereira A; Department of Clinical Hematology, Pediatric Hospital, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal., Cortesao E; Department of Clinical Hematology, Pediatric Hospital, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal., Vacchini A; IRCCS Humanitas Research Hospital, Rozzano, Milan, Italy., Castagna A; IRCCS Humanitas Research Hospital, Rozzano, Milan, Italy., Pinelli M; 'Angelo Nocivelli' Institute for Molecular Medicine, University of Brescia, Brescia, Italy., Moratto D; 'Angelo Nocivelli' Institute for Molecular Medicine, University of Brescia, Brescia, Italy., Bonecchi R; IRCCS Humanitas Research Hospital, Rozzano, Milan, Italy.; Department of Biomedical Sciences, Humanitas University, Pieve Emanuele, Milan, Italy., Locati M; Department of Medical Biotechnology and Translational Medicine, University of Milan, Milan, Italy.; IRCCS Humanitas Research Hospital, Rozzano, Milan, Italy., Scala S; Microenvironment Molecular Targets, Istituto Nazionale Tumori-IRCCS-Fondazione G. Pascale, Naples, Italy., Chevigné A; Department of Infection and Immunity, Immuno-Pharmacology and Interactomics, Luxembourg Institute of Health, Esch-sur-Alzette, Luxembourg., Borroni EM; Department of Medical Biotechnology and Translational Medicine, University of Milan, Milan, Italy.; IRCCS Humanitas Research Hospital, Rozzano, Milan, Italy., Badolato R; 'Angelo Nocivelli' Institute for Molecular Medicine, University of Brescia, Brescia, Italy.; Department of Pediatrics, ASST Spedali Civili, Brescia, Italy.; Department of Clinical and Experimental Sciences, University of Brescia, ASST Spedali Civili, Brescia, Italy.
Source: JCI insight [JCI Insight] 2023 Mar 08; Vol. 8 (5). Date of Electronic Publication: 2023 Mar 08.
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
Journal Info: Publisher: American Society for Clinical Investigation Country of Publication: United States NLM ID: 101676073 Publication Model: Electronic Cited Medium: Internet ISSN: 2379-3708 (Electronic) Linking ISSN: 23793708 NLM ISO Abbreviation: JCI Insight Subsets: MEDLINE
Database: MEDLINE Ultimate
Description
ISSN:2379-3708
DOI:10.1172/jci.insight.145688