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

Summary 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‐γ) showed a pattern of lymphocyte a...

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Veröffentlicht in:	Journal of inherited metabolic disease 2007-02, Vol.30 (1), p.105-105
Hauptverfasser:	D'Eufemia, P., Finocchiaro, R., Celli, M., Zambrano, A., Tetti, M., Ferrucci, V., Lenti, L.
Format:	Artikel
Sprache:	eng
Schlagworte:	Child Glycogen Storage Disease Type I - complications Glycogen Storage Disease Type I - pathology Humans Infection - diagnosis Interferon-gamma - biosynthesis Interleukin-2 - biosynthesis Interleukin-4 - biosynthesis Lymphocyte Activation Male Neutropenia - pathology Neutrophils - pathology Recurrence Th1 Cells - metabolism Th2 Cells - metabolism
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Zusammenfassung:	Summary 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‐γ) showed a pattern of lymphocyte activation suggesting a shift of TH1/TH2 balance towards a TH1 response. This is the first report of GSD Ib without severe recurrent infections in spite of neutropenia and neutrophil dysfunction.
ISSN:	0141-8955 1573-2665
DOI:	10.1007/s10545-006-0511-9