Skip to main content
SpringerLink
Log in

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

  • Short Report
  • Published:
Journal of Inherited Metabolic Disease

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.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Author information

Authors and Affiliations

  1. Department of Pediatrics, University of Rome ‘La Sapienza’, Rome, Italy

    P. D’Eufemia, R. Finocchiaro, M. Celli, A. Zambrano, M. Tetti, V. Ferrucci & L. Lenti

  2. Department of Experimental Medicine and Pathology, University of Rome ‘La Sapienza’, Rome, Italy

    L. Lenti

Authors
  1. P. D’Eufemia
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. R. Finocchiaro
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. M. Celli
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. A. Zambrano
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. M. Tetti
    View author publications

    You can also search for this author in PubMed Google Scholar

  6. V. Ferrucci
    View author publications

    You can also search for this author in PubMed Google Scholar

  7. L. Lenti
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to P. D’Eufemia.

Additional information

Communicating editor: J.V. Leonard

Electronic Supplementary Material

Rights and permissions

Reprints and permissions

About this article

Cite this article

D’Eufemia, P., Finocchiaro, R., Celli, M. et al. Absence of severe recurrent infections in glycogen storage disease type Ib with neutropenia and neutrophil dysfunction. J Inherit Metab Dis 30, 105 (2007). https://doi.org/10.1007/s10545-006-0511-9

Download citation

  • Received:

  • Revised:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s10545-006-0511-9

Keywords

Search

Navigation