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.
Absence of severe recurrent infections in glycogen storage disease type Ib with neutropenia and neutrophil dysfunction / D'Eufemia, Patrizia; R., Finocchiaro; M., Celli; Zambrano, Anna; Tetti, Martina; V., Ferrucci; Lenti, Luisa. - In: JOURNAL OF INHERITED METABOLIC DISEASE. - ISSN 0141-8955. - 30:1(2007), pp. 105-105. [10.1007/s10545-006-0511-9]
Absence of severe recurrent infections in glycogen storage disease type Ib with neutropenia and neutrophil dysfunction
D'EUFEMIA, Patrizia;ZAMBRANO, ANNA;TETTI, MARTINA;LENTI, Luisa
2007
Abstract
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.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
