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Prepublished online as a Blood First Edition Paper on February 6, 2003; DOI 10.1182/blood-2002-10-3128.
Submitted October 16, 2002
Accepted January 29, 2003
Apoptotic Neutrophils in the Circulation of Patients with Glycogen Storage Disease type 1b (GSD1b)
T W Kuijpers*, N A Maianski, A T Tool, G P Smit, J P Rake, D Roos, and G Visser
Emma Children Hospital, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands; Sanquin Research at CLB, and Landsteiner Laboratory, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands
Sanquin Research at CLB, and Landsteiner Laboratory, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands
Beatrix Children Hospital, University Hospital Groningen, Groningen, The Netherlands
Wilhelmina Children Hospital, University Medical Centre Utrecht, Utrecht, The Netherlands
* Corresponding author; email: t.w.kuijpers{at}amc.uva.nl.
Glycogen Storage Disease type 1b (GSD1b) is a rare autosomal recessive disorder characterized by hypoglycemia, hepatomegaly, and growth retardation, and associated - for unknown reasons - with neutropenia and neutrophil dysfunction. In 5 GSD1b patients in which NADPH-oxidase activity and chemotaxis were defective, we found that the majority of circulating granulocytes bound Annexin-V. The neutrophils showed signs of apoptosis with increased caspase activity, condensed nuclei and perinuclear clustering of mitochondria to which the pro-apoptotic Bcl-2 member Bax had translocated already. G-CSF addition to in-vitro cultures did not rescue the GSD1b neutrophils from apoptosis as occurs with G-CSF-treated control neutrophils. Moreover, the two GSD1b patients on G-CSF treatment did not show significantly lower levels of apoptotic neutrophils in the bloodstream. Current understanding of neutrophil apoptosis and the accompanying functional demise suggests that GSD1b granulocytes are dysfunctional because they are apoptotic.
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