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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...
Autores principales: | , , , , , , , , , , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
American Society for Clinical Investigation
2023
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Materias: | |
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 |