Gaucher disease, the most common lysosomal storage disorder, is remarkable
for its tremendous phenotypic heterogeneity even among patients with the sa
me genotype. Beyond mutations at the lq21 locus, there may be other genetic
and environmental factors that impact on the natural course of Gaucher dis
ease and indeed may trigger symptoms and signs. Among candidate events are
viral infections such as the Epstein-Barr virus (EBV) or cytomegalovirus (C
MV). The purpose of this study was to ascertain if indeed prior infection w
ith EBV or CMV in patients homozygous for the most common mutation, N370S (
1226G), is predictive of a more severe phenotype. Evidence for an EBV virus
was IgG and IgM antibodies to early antigen and IgG anti-EBNA. For CMV inf
ection, Ige and IgM antibodies were sought. This study failed to demonstrat
e any correlation between prior EBV or CMV infection and clinical course of
Gaucher disease in patients homozygous for the N370S (12266) mutation. The
only positive finding was a higher level of anti-EBNA antibodies among pat
ients with moderate/ severe disease. In conclusion, other than a small subs
et of patients who showed a pattern comparable to immunosuppression, there
was no association between severity of Gaucher disease and prior EBV or CMV
infection. (C) 2001 Academic Press.