Abstract.
Neutrophils from patients suffering from glycogen storage disease type Ib (GSD-Ib) show marked functional deficiencies (chemotaxis, respiratory burst, and phagocytosis). Here we describe neutrophil adherence receptor (L-selectin CD62L and β2 integrins CD11b/CD18) deficiency in a patient with genotype of GSD-Ib, who presented with recurrent infections, diminished neutrophil count and impaired functions. Treatment with granulocyte-colony stimulating factor (G-CSF) had a beneficial effect on the infectious status, the enhancement of phagocytosis and the regression of the adherence receptor defect. Conclusion: this is the first observation of a patient with glycogen storage disease type Ib with a deficiency in leucocyte adherence receptor expression, which regressed with growth factor therapy. It underlines the potential role of these receptors in the genesis of recurrent infections which occur in patients with this disease.
Similar content being viewed by others
Author information
Authors and Affiliations
Additional information
Electronic Publication
Rights and permissions
About this article
Cite this article
Latger-Cannard, V., Marchand-Arvier, M., Vidailhet, M. et al. Neutrophil adherence receptor deficiency regressing with granulocyte-colony stimulating factor therapy in a case of glycogen storage disease type Ib. Eur J Pediatr 161, 87–93 (2002). https://doi.org/10.1007/s00431-001-0874-8
Received:
Accepted:
Published:
Issue Date:
DOI: https://doi.org/10.1007/s00431-001-0874-8