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JOURNAL ARTICLE

Absence of severe recurrent infections in glycogen storage disease type Ib with neutropenia and neutrophil dysfunction

P D'Eufemia, R Finocchiaro, M Celli, A Zambrano, M Tetti, V Ferrucci, L Lenti
Journal of Inherited Metabolic Disease 2007, 30 (1): 105
17187242
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.

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