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Absence of severe recurrent infections in glycogen storage disease type Ib with neutropenia and neutrophil dysfunction
Author(s) -
D'Eufemia P.,
Finocchiaro R.,
Celli M.,
Zambrano A.,
Tetti M.,
Ferrucci V.,
Lenti L.
Publication year - 2007
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/s10545-006-0511-9
Subject(s) - neutropenia , immunology , glycogen storage disease , medicine , absolute neutrophil count , lymphocyte , glycogen storage disease type i , leukopenia , glycogen , chemotherapy
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 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.