Infectious and Immunologic Phenotype of MECP2 Duplication Syndrome
| العنوان: | Infectious and Immunologic Phenotype of MECP2 Duplication Syndrome |
|---|---|
| المؤلفون: | Thusari Gomes, Fabian Marc Kaiser, Salima El-Chehadeh, Horst von Bernuth, Bernard Echenne, Maria P. Botella, Karin Hameister, Rainer Rossi, Maria-Isabel Tejada, Volker Wahn, Sophie Julia, Christian Meisel, Nadine Unterwalder, Michael Bauer, Renate Krüger, Xiu Xu, Nicole Philip, Magdalena Budisteanu, Alexandra Afenjar, Dagmar Wieczorek, Hilde Van Esch, Sorina Mihaela Papuc, Ludwig Gortner, Francisco Martínez, Oliver Patat, Mónica Roselló, Uwe Kölsch, Renaud Touraine, Aleksandra Jezela-Stanek, Kirsten Wenner, Annick Toutain, Carmen Orellana, Aglaia Vignoli |
| المصدر: | JOURNAL OF CLINICAL IMMUNOLOGY r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe instname Journal of Clinical Immunology |
| بيانات النشر: | SPRINGER/PLENUM PUBLISHERS, 2015. |
| سنة النشر: | 2015 |
| مصطلحات موضوعية: | Adult, Male, medicine.medical_specialty, Adolescent, Genotype, Methyl-CpG-Binding Protein 2, Immunology, MECP2 duplication syndrome, Medizin, Immunoglobulins, Biology, Infections, primary immunodeficiency, Sepsis, Cohort Studies, Young Adult, methyl CpG binding protein 2 (MECP2), Medical microbiology, Gene Duplication, Gene duplication, medicine, Immunology and Allergy, Humans, Child, Immunodeficiency, Original Research, Immunity, Cellular, Antibody titer, Middle Aged, medicine.disease, Immunity, Humoral, Pneumonia, C-Reactive Protein, Phenotype, intellectual disability, Child, Preschool, Primary immunodeficiency, Mental Retardation, X-Linked, Female, Xq28-duplication syndrome, humoral immunodeficiency, Acute-Phase Proteins |
| الوصف: | 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. 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. |
| وصف الملف: | Print-Electronic; application/pdf |
| تدمد: | 0271-9142 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f876a3aff6ebfaa76fc5f514abc11208Test https://fundanet.iislafe.san.gva.es/publicaciones/ProdCientif/PublicacionFrw.aspx?id=1822Test |
| حقوق: | OPEN |
| رقم الانضمام: | edsair.doi.dedup.....f876a3aff6ebfaa76fc5f514abc11208 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 02719142 |
|---|