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

doi:10.1172/jci.insight.145688

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Article

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

JCI insight - 8 Mar 2023

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

Abstract excerpt

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 hypogammaglobulinemia. All mutations reported in WHIM patients lead to the truncations in the C-terminal domain of CXCR4,...

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Identifiers

PMID: 36883568
DOI: 10.1172/jci.insight.145688
PMCID: PMC10077478

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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