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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Published inJournal of inherited metabolic disease Vol. 30; no. 1; p. 105
Main Authors D'Eufemia, P., Finocchiaro, R., Celli, M., Zambrano, A., Tetti, M., Ferrucci, V., Lenti, L.
Format Journal Article
LanguageEnglish
Published Dordrecht Springer Netherlands 01.02.2007
Blackwell Publishing Ltd
Subjects
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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Summary: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.
Bibliography:Supplementary material is available for this article at 10.1007/s10545‐006‐0511‐9
Electronic Supplementary Material
Communicating editor: J.V. Leonard
ObjectType-Case Study-2
SourceType-Scholarly Journals-1
ObjectType-Feature-4
content type line 23
ObjectType-Report-1
ObjectType-Article-3
ISSN:0141-8955
1573-2665
DOI:10.1007/s10545-006-0511-9