2015
DOI: 10.1007/s10875-015-0129-5
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Infectious and Immunologic Phenotype of MECP2 Duplication Syndrome

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 abnormaliti… Show more

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Cited by 44 publications
(87 citation statements)
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“…About 70 to 75% of patients with MECP2 duplication display susceptibility to recurrent infections. IgA/IgG2 deficiency, low antibody titers against pneumococci, and abnormally strong acute-phase responses have recently been reported in patients with MECP2 duplication syndrome (93). Based on these data, a diagnosis of MECP2-related congenital encephalopathy was established in our patient.…”
Section: Resultssupporting
confidence: 58%
“…About 70 to 75% of patients with MECP2 duplication display susceptibility to recurrent infections. IgA/IgG2 deficiency, low antibody titers against pneumococci, and abnormally strong acute-phase responses have recently been reported in patients with MECP2 duplication syndrome (93). Based on these data, a diagnosis of MECP2-related congenital encephalopathy was established in our patient.…”
Section: Resultssupporting
confidence: 58%
“…The excessive innate inflammation seen in this study may correlate to excessive acute-phase responses observed in MeCP2 duplication syndrome patients (19), and could represent a common defect in the immune response when MeCP2 is overexpressed. Interestingly, significant levels of CXCL5 were observed in MeCP2…”
Section: Discussionmentioning
confidence: 65%
“…In patients, deficiency of IgA and IgG 2 and excessive levels of IgG 1 and IgG 3 were found, in addition to an elevated acute-phase response (19). Interestingly, this same study of MeCP2 duplication patients did not detect any obvious T cell abnormalities, including normal IFN-γ production (19).…”
Section: Introductionmentioning
confidence: 68%
See 1 more Smart Citation
“…Chapter 1: Introduction 14 measure any baseline T cell abnormalities, including a finding of normal IFNγ production, however they did measure significant abnormalities of antibody production and an excessive acute phase response in the context of infection (Bauer et al, 2015).…”
Section: Mecp2 Duplication Syndromementioning
confidence: 99%