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Title: Infectious and Immunologic Phenotype of MECP2 Duplication Syndrome
Authors: Bauer, Michael ×
Kölsch, Uwe
Krüger, Renate
Unterwalder, Nadine
Hameister, Karin
Kaiser, Fabian Marc
Vignoli, Aglaia
Rossi, Rainer
Botella, Maria Pilar
Budisteanu, Magdalena
Rosello, Monica
Orellana, Carmen
Tejada, Maria Isabel
Papuc, Sorina Mihaela
Patat, Oliver
Julia, Sophie
Touraine, Renaud
Gomes, Thusari
Wenner, Kirsten
Xu, Xiu
Afenjar, Alexandra
Toutain, Annick
Philip, Nicole
Jezela-Stanek, Aleksandra
Gortner, Ludwig
Martinez, Francisco
Echenne, Bernard
Wahn, Volker
Meisel, Christian
Wieczorek, Dagmar
El-Chehadeh, Salima
Van Esch, Hilde
von Bernuth, Horst #
Issue Date: Feb-2015
Publisher: Plenum Press
Series Title: Journal of Clinical Immunology vol:35 issue:2 pages:168-81
Abstract: MECP2 (methyl CpG binding protein 2) duplication causes syndromic intellectual disability. Patients often suffer from life-threatening infections, suggesting an additional immunodeficiency. We describe for the first time the detailed infectious and immunological phenotype of MECP2 duplication syndrome. 17/27 analyzed patients suffered from pneumonia, 5/27 from at least one episode of sepsis. Encapsulated bacteria (S.pneumoniae, H.influenzae) were frequently isolated. T-cell immunity showed no gross abnormalities in 14/14 patients and IFNy-secretion upon ConA-stimulation was not decreased in 6/7 patients. In 6/21 patients IgG2-deficiency was detected - in 4/21 patients accompanied by IgA-deficiency, 10/21 patients showed low antibody titers against pneumococci. Supra-normal IgG1-levels were detected in 11/21 patients and supra-normal IgG3-levels were seen in 8/21 patients - in 6 of the patients as combined elevation of IgG1 and IgG3. Three of the four patients with IgA/IgG2-deficiency developed multiple severe infections. Upon infections pronounced acute-phase responses were common: 7/10 patients showed CRP values above 200 mg/l. Our data for the first time show systematically that increased susceptibility to infections in MECP2 duplication syndrome is associated with IgA/IgG2-deficiency, low antibody titers against pneumococci and elevated acute-phase responses. So patients with MECP2 duplication syndrome and low IgA/IgG2 may benefit from prophylactic substitution of sIgA and IgG.
URI: 
ISSN: 0271-9142
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Department of Human Genetics - miscellaneous
× corresponding author
# (joint) last author

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