title: Absence of severe recurrent infections in glycogen storage disease type Ib with neutropenia and neutrophil dysfunction.
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.
authors.affiliation: Department of Pediatrics, University of Rome La Sapienza, Rome, Italy. patdeufemia@inwind.it
authors.forename: P
authors.initials: P
authors.lastname: D'Eufemia
authors.forename: R
authors.initials: R
authors.lastname: Finocchiaro
authors.forename: M
authors.initials: M
authors.lastname: Celli
authors.forename: A
authors.initials: A
authors.lastname: Zambrano
authors.forename: M
authors.initials: M
authors.lastname: Tetti
authors.forename: V
authors.initials: V
authors.lastname: Ferrucci
authors.forename: L
authors.initials: L
authors.lastname: Lenti
mesh_terms: D002648:Child; D005953:Glycogen Storage Disease Type I / Q000150:complications* / Q000473:pathology*; D006801:Humans; D007239:Infections / Q000175:diagnosis*; D007371:Interferon-gamma / Q000096:biosynthesis; D007376:Interleukin-2 / Q000096:biosynthesis; D015847:Interleukin-4 / Q000096:biosynthesis; D008213:Lymphocyte Activation; D008297:Male; D009503:Neutropenia / Q000473:pathology*; D009504:Neutrophils / Q000473:pathology*; D012008:Recurrence; D018417:Th1 Cells / Q000378:metabolism; D018418:Th2 Cells / Q000378:metabolism
chemical_list: D007376:Interleukin-2; D015847:Interleukin-4; D007371:Interferon-gamma