Infectious and immunologic phenotype of MECP2 duplication syndrome.

doi:10.1007/s10875-015-0129-5

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Article

Infectious and immunologic phenotype of MECP2 duplication syndrome.

Journal of clinical immunology - 1 Feb 2015

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

Abstract excerpt

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...

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Identifiers

PMID: 25721700
DOI: 10.1007/s10875-015-0129-5
PMCID: PMC7101860

Genes

MECP2
CRP

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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