Latger-Cannard Véronique, Marchand-Arvier Monique, Vidailhet Michel, Donadieu Jean, Vigneron Claude, Bordigoni Pierre
Service d'Hématologie Biologique, CHU Nancy, Vandoeuvre-lès-Nancy, France.
Eur J Pediatr. 2002 Feb;161(2):87-93. doi: 10.1007/s00431-001-0874-8.
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 beta2 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.
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.
患有1b型糖原贮积病（GSD-Ib）的患者的中性粒细胞表现出明显的功能缺陷（趋化性、呼吸爆发和吞噬作用）。在此，我们描述了一名基因型为GSD-Ib的患者存在中性粒细胞黏附受体（L-选择素CD62L和β2整合素CD11b/CD18）缺陷，该患者反复感染、中性粒细胞计数减少且功能受损。使用粒细胞集落刺激因子（G-CSF）治疗对感染状况、吞噬作用增强及黏附受体缺陷的消退具有有益作用。
这是首次观察到1b型糖原贮积病患者存在白细胞黏附受体表达缺陷，且该缺陷在生长因子治疗后消退。这突出了这些受体在该疾病患者反复感染发生过程中的潜在作用。
