ArticleJournal of clinical immunology2015
Infectious and immunologic phenotype of MECP2 duplication syndrome.
Article in Journal of clinical immunology, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers.
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Who cites it
25 citing papers in PubMed, 46 citations in OpenAlex.
- Unraveling the layers of epigenetic control in respiratory antiviral defense.Journal of virology · 2026Review
- Case Report: MECP2 and SH3KBP1 variants associated with autism spectrum disorder and immune dysregulation.Frontiers in immunology · 2026Article
- The Nodding syndrome cerebrospinal fluid proteome: a lens into neurodevelopmental failure consistent with environmentally triggeredFrontiers in molecular neuroscience · 2026Article
- A novel approach to metabolic profiling in case models of MECP2-related disorders.Metabolic brain disease · 2025Article
- Article
- Multi-gene duplication removal in an engineered human cellular MECP2 duplication syndrome model with anMolecular therapy. Nucleic acids · 2024Article
- An Irak1-Mecp2 tandem duplication mouse model for the study of MECP2 duplication syndrome.Disease models & mechanisms · 2024Article
- CRL4Cellular and molecular life sciences : CMLS · 2024Article
- Monogenic Inborn Errors of Immunity with impaired IgG response to polysaccharide antigens but normal IgG levels and normal IgG response to protein antigens.Frontiers in pediatrics · 2024Review
- MECP2-related disorders while gene-based therapies are on the horizon.Frontiers in genetics · 2024Review
- How Families Manage the Complex Medical Needs of Their Children withChildren (Basel, Switzerland) · 2023Article
- Exploring the characteristics and most bothersome symptoms in MECP2 duplication syndrome to pave the path toward developing parent-oriented outcome measures.Molecular genetics & genomic medicine · 2022Article
- Medical Comorbidities inChildren (Basel, Switzerland) · 2022Article
- A brief history of MECP2 duplication syndrome: 20-years of clinical understanding.Orphanet journal of rare diseases · 2022Review
- Rett Syndrome andNeuropsychiatric disease and treatment · 2022Review
- Sleep Disorders in Rett Syndrome and Rett-Related Disorders: A Narrative Review.Frontiers in neurology · 2022Review
- Review
- Abdominal compartment syndrome secondary to chronic constipation in MECP2 duplication syndrome.BMJ case reports · 2021Article
- Virus-induced genetics revealed by multidimensional precision medicine transcriptional workflow applicable to COVID-19.Physiological genomics · 2020Article
- Mecp2 regulatesDisease models & mechanisms · 2017Article
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Authors and funding
33 authors at 20 institutions in 8 countries.
Funding
No grant is acknowledged in the PubMed record.
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.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.