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Infectious and immunologic phenotype of MECP2 duplication syndrome

Michael Bauer1, Uwe Kölsch, Renate Krüger

  • 1Pediatric Pneumology and Immunology, Charité University Medicine, Berlin, Germany, Michael.Bauer@charite.de.

Journal of Clinical Immunology
|February 28, 2015
PubMed

Insights

MECP2 duplication syndrome patients frequently experience severe infections due to immunodeficiency. This study links infections to IgA/IgG2 deficiency, low pneumococcal antibody titers, and heightened acute-phase responses, suggesting potential benefits from immunoglobulin therapy.

Area of Science:

  • Immunology
  • Genetics
  • Pediatrics

Background:

  • MECP2 duplication syndrome is a genetic disorder causing intellectual disability.
  • Patients often present with recurrent, severe infections, indicating an underlying immunodeficiency.
  • The precise infectious and immunological profile in this syndrome remains poorly understood.

Purpose of the Study:

  • To systematically investigate the infectious and immunological phenotype in individuals with MECP2 duplication syndrome.
  • To identify specific immune deficiencies associated with increased infection susceptibility.
  • To explore potential therapeutic strategies based on the observed immunological findings.

Main Methods:

  • Clinical data analysis of infection history in 27 patients.
  • Immunological assessment including T-cell function, immunoglobulin levels (IgA, IgG subclasses), and antibody titers against encapsulated bacteria.
  • Evaluation of acute-phase response markers like C-reactive protein (CRP).

Main Results:

  • High incidence of pneumonia (17/27) and sepsis (5/27), frequently involving encapsulated bacteria.
  • No gross T-cell abnormalities; normal Interferon-gamma secretion in most patients.
  • Significant findings include IgA/IgG2 deficiency (6/21), low pneumococcal antibody titers (10/21), and elevated IgG1/IgG3 levels (11/21 and 8/21 respectively).
  • Patients with IgA/IgG2 deficiency experienced multiple severe infections.
  • Pronounced acute-phase responses (CRP > 200 mg/l in 7/10 patients) were common during infections.

Conclusions:

  • MECP2 duplication syndrome is associated with a distinct immunodeficiency characterized by IgA/IgG2 deficiency, impaired specific antibody response to pneumococci, and exaggerated acute-phase reactions.
  • These immune deficits contribute to the high susceptibility to severe bacterial infections.
  • Prophylactic substitution with secretory IgA (sIgA) and IgG may benefit patients with MECP2 duplication syndrome and co-existing IgA/IgG2 deficiency.

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