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Infectious and Immunologic Phenotype of MECP2 Duplication Syndrome

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 syndro...

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Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer US 2015
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7101860/
https://www.ncbi.nlm.nih.gov/pubmed/25721700
http://dx.doi.org/10.1007/s10875-015-0129-5
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author 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
author_facet 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
author_sort Bauer, Michael
collection PubMed
description 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 IgG(2)-deficiency was detected – in 4/21 patients accompanied by IgA-deficiency, 10/21 patients showed low antibody titers against pneumococci. Supra-normal IgG(1)-levels were detected in 11/21 patients and supra-normal IgG(3)-levels were seen in 8/21 patients – in 6 of the patients as combined elevation of IgG(1) and IgG(3). Three of the four patients with IgA/IgG(2)-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/IgG(2)-deficiency, low antibody titers against pneumococci and elevated acute-phase responses. So patients with MECP2 duplication syndrome and low IgA/IgG(2) may benefit from prophylactic substitution of sIgA and IgG. ELECTRONIC SUPPLEMENTARY MATERIAL: The online version of this article (doi:10.1007/s10875-015-0129-5) contains supplementary material, which is available to authorized users.
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spelling pubmed-71018602020-03-31 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 J Clin Immunol Original Research 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 IgG(2)-deficiency was detected – in 4/21 patients accompanied by IgA-deficiency, 10/21 patients showed low antibody titers against pneumococci. Supra-normal IgG(1)-levels were detected in 11/21 patients and supra-normal IgG(3)-levels were seen in 8/21 patients – in 6 of the patients as combined elevation of IgG(1) and IgG(3). Three of the four patients with IgA/IgG(2)-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/IgG(2)-deficiency, low antibody titers against pneumococci and elevated acute-phase responses. So patients with MECP2 duplication syndrome and low IgA/IgG(2) may benefit from prophylactic substitution of sIgA and IgG. ELECTRONIC SUPPLEMENTARY MATERIAL: The online version of this article (doi:10.1007/s10875-015-0129-5) contains supplementary material, which is available to authorized users. Springer US 2015-02-27 2015 /pmc/articles/PMC7101860/ /pubmed/25721700 http://dx.doi.org/10.1007/s10875-015-0129-5 Text en © Springer Science+Business Media New York 2015 This article is made available via the PMC Open Access Subset for unrestricted research re-use and secondary analysis in any form or by any means with acknowledgement of the original source. These permissions are granted for the duration of the World Health Organization (WHO) declaration of COVID-19 as a global pandemic.
spellingShingle Original Research
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
Infectious and Immunologic Phenotype of MECP2 Duplication Syndrome
title Infectious and Immunologic Phenotype of MECP2 Duplication Syndrome
title_full Infectious and Immunologic Phenotype of MECP2 Duplication Syndrome
title_fullStr Infectious and Immunologic Phenotype of MECP2 Duplication Syndrome
title_full_unstemmed Infectious and Immunologic Phenotype of MECP2 Duplication Syndrome
title_short Infectious and Immunologic Phenotype of MECP2 Duplication Syndrome
title_sort infectious and immunologic phenotype of mecp2 duplication syndrome
topic Original Research
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7101860/
https://www.ncbi.nlm.nih.gov/pubmed/25721700
http://dx.doi.org/10.1007/s10875-015-0129-5
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