| Title |
Infectious and Immunologic Phenotype of MECP2 Duplication Syndrome
|
|---|---|
| Published in |
Journal of Clinical Immunology, February 2015
|
| DOI | 10.1007/s10875-015-0129-5 |
| Pubmed ID | |
| Authors |
Michael Bauer, Uwe Kölsch, Renate Krüger, Nadine Unterwalder, Karin Hameister, Fabian Marc Kaiser, Aglaia Vignoli, Rainer Rossi, Maria Pilar Botella, Magdalena Budisteanu, Monica Rosello, Carmen Orellana, Maria Isabel Tejada, Sorina Mihaela Papuc, Oliver Patat, Sophie Julia, Renaud Touraine, Thusari Gomes, Kirsten Wenner, Xiu Xu, Alexandra Afenjar, Annick Toutain, Nicole Philip, Aleksandra Jezela-Stanek, Ludwig Gortner, Francisco Martinez, Bernard Echenne, Volker Wahn, Christian Meisel, Dagmar Wieczorek, Salima El-Chehadeh, Hilde Van Esch, Horst von Bernuth |
| 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. |
Mendeley readers
The data shown below were compiled from readership statistics for 69 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| United States | 2 | 3% |
| Spain | 1 | 1% |
| Italy | 1 | 1% |
| Unknown | 65 | 94% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Researcher | 14 | 20% |
| Student > Ph. D. Student | 12 | 17% |
| Student > Doctoral Student | 6 | 9% |
| Student > Master | 6 | 9% |
| Student > Bachelor | 5 | 7% |
| Other | 15 | 22% |
| Unknown | 11 | 16% |
| Readers by discipline | Count | As % |
|---|---|---|
| Medicine and Dentistry | 18 | 26% |
| Agricultural and Biological Sciences | 14 | 20% |
| Biochemistry, Genetics and Molecular Biology | 7 | 10% |
| Unspecified | 5 | 7% |
| Neuroscience | 5 | 7% |
| Other | 5 | 7% |
| Unknown | 15 | 22% |
Attention Score in Context
This research output has an Altmetric Attention Score of 1. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 26 February 2015.
All research outputs
#20,264,045
of 22,794,367 outputs
Outputs from Journal of Clinical Immunology
#1,254
of 1,557 outputs
Outputs of similar age
#215,413
of 255,577 outputs
Outputs of similar age from Journal of Clinical Immunology
#12
of 29 outputs
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