Severe congenital neutropenia resulting from G6PC3 deficiency with increased neutrophil CXCR4 expression and myelokathexis

Mutations in more than 15 genes are now known to cause severe congenital neutropenia (SCN); however, the pathologic mechanisms of most genetic defects are not fully defined. Deficiency of G6PC3, a glucose-6-phosphatase, causes a rare multisystem syndrome with SCN first described in 2009. We identifi...

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Hauptverfasser: McDermott, David H., De Ravin, Suk See, Jun, Hyun Sik, Liu, Qian, Priel, Debra A. Long, Noel, Pierre, Takemoto, Clifford M., Ojode, Teresa, Paul, Scott M., Dunsmore, Kimberly P., Hilligoss, Dianne, Marquesen, Martha, Ulrick, Jean, Kuhns, Douglas B., Chou, Janice Y., Malech, Harry L., Murphy, Philip M.
Format: Artigo
Sprache:Inglês
Veröffentlicht: American Society of Hematology 2010
Schlagworte:
Phagocytes, Granulocytes, and Myelopoiesis
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC2974587/
https://ncbi.nlm.nih.gov/pubmed/20616219
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1182/blood-2010-01-265942
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