Metabolic abnormalities in G6PC3-deficient human neutrophils result in severe functional defects

Severe congenital neutropenia type 4 (SCN-4) is an autosomal recessive condition in which mutations in the G6PC3 gene encoding for the catalytic 3 subunit of glucose-6-phosphatase-β result in neutropenia, neutrophil dysfunction, and other syndromic features. We report a child with SCN-4 caused by co...

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Detalhes bibliográficos
Publicado no:Blood Adv
Main Authors: McKinney, Christopher, Ellison, Michael, Briones, Natalie J., Baroffio, Angelina, Murphy, John, Tran, Alexander D., Reisz, Julie A., D’Alessandro, Angelo, Ambruso, Daniel R.
Formato: Artigo
Idioma:Inglês
Publicado em: American Society of Hematology 2020
Assuntos:
Phagocytes, Granulocytes, and Myelopoiesis
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7724913/
https://ncbi.nlm.nih.gov/pubmed/33259599
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1182/bloodadvances.2020002225
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