1.
J Inherit Metab Dis
; 30(1): 105, 2007 Feb.
Artigo
em Inglês
| MEDLINE
| ID: mdl-17187242
RESUMO
We describe a 10-year-old boy with glycogen storage disease type Ib (GSD Ib) with neutropenia and neutrophil dysfunction who never suffered from severe recurrent infections. Lymphocyte subpopulations and assay of intracellular cytokines (IL-2, IL-4 and IFN-gamma) showed a pattern of lymphocyte activation suggesting a shift of T(H)1/T(H)2 balance towards a T(H)1 response. This is the first report of GSD Ib without severe recurrent infections in spite of neutropenia and neutrophil dysfunction.