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Prepublished online as a Blood First Edition Paper on February 6, 2003; DOI 10.1182/blood-2002-10-3128.
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Blood, 15 June 2003, Vol. 101, No. 12, pp. 5021-5024
PHAGOCYTES
Brief report
Apoptotic neutrophils in the circulation of patients with glycogen storage disease type 1b (GSD1b)
Taco W. Kuijpers,
Nikolai A. Maianski,
Anton T. J. Tool,
G. Peter A. Smit,
Jan Peter Rake,
Dirk Roos, and
Gepke Visser
From Emma Children's Hospital, Academic Medical Centre, University of Amsterdam, Amsterdam, the Netherlands; Sanquin Research at Central Laboratory for Blood Transfusion (CLB), and Landsteiner Laboratory, Academic Medical Centre, University of Amsterdam, Amsterdam, the Netherlands; Beatrix Children's Hospital, University Hospital Groningen, Groningen, the Netherlands; and Wilhelmina Children's Hospital, University Medical Centre Utrecht, Utrecht, the Netherlands.
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 whom nicotin-amide adenine dinucleotide phosphate–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 proapoptotic Bcl-2 member Bax had translocated already. Granulocyte colony-stimulating factor (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 2 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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