Neutrophil adherence receptor deficiency regressing with granulocyte-colony stimulating factor therapy in a case of glycogen storage disease type Ib.
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.


CONCLUSIONS
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.
Latger-Cannard
Véronique
V
Service d'Hématologie Biologique, CHU Nancy, Vandoeuvre-lès-Nancy, France.
Marchand-Arvier
Monique
M
Vidailhet
Michel
M
Donadieu
Jean
J
Vigneron
Claude
C
Bordigoni
Pierre
P
D002465:Cell Movement / Q000187:drug effects; D002634:Chemotaxis, Leukocyte / Q000187:drug effects; D005500:Follow-Up Studies; D005953:Glycogen Storage Disease Type I / Q000150:complications / Q000175:diagnosis* / Q000188:drug therapy*; D016179:Granulocyte Colony-Stimulating Factor / Q000008:administration & dosage*; D006801:Humans; D007231:Infant, Newborn; D007958:Leukocyte Count; D009503:Neutropenia / Q000188:drug therapy* / Q000209:etiology; D009504:Neutrophils / Q000187:drug effects* / Q000502:physiology; D011379:Prognosis; D013997:Time Factors; D016896:Treatment Outcome
D016179:Granulocyte Colony-Stimulating Factor