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Infectious and immunologic phenotype of MECP2 duplication syndrome.
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.
Afiliación
  • Bauer M; Pediatric Pneumology and Immunology, Charité University Medicine, Berlin, Germany, Michael.Bauer@charite.de.
J Clin Immunol ; 35(2): 168-81, 2015 Feb.
Article en En | MEDLINE | ID: mdl-25721700
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.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Fenotipo / Duplicación de Gen / Discapacidad Intelectual Ligada al Cromosoma X / Proteína 2 de Unión a Metil-CpG / Infecciones Tipo de estudio: Diagnostic_studies / Etiology_studies / Incidence_studies / Observational_studies / Risk_factors_studies Límite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male / Middle aged Idioma: En Revista: J Clin Immunol Año: 2015 Tipo del documento: Article Pais de publicación: Países Bajos
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Fenotipo / Duplicación de Gen / Discapacidad Intelectual Ligada al Cromosoma X / Proteína 2 de Unión a Metil-CpG / Infecciones Tipo de estudio: Diagnostic_studies / Etiology_studies / Incidence_studies / Observational_studies / Risk_factors_studies Límite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male / Middle aged Idioma: En Revista: J Clin Immunol Año: 2015 Tipo del documento: Article Pais de publicación: Países Bajos