{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,21]],"date-time":"2026-09-21T08:14:25Z","timestamp":1789978465663,"version":"4.0.1"},"reference-count":17,"publisher":"Wiley","license":[{"start":{"date-parts":[[2014,1,1]],"date-time":"2014-01-01T00:00:00Z","timestamp":1388534400000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/3.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Journal of Immunology Research"],"published-print":{"date-parts":[[2014]]},"abstract":"<jats:p>Rett syndrome (RTT), a neurodevelopmental disorder affecting exclusively (99%) female infants, is associated with loss-of-function mutations in the gene encoding methyl-CpG binding protein 2 (<jats:italic>MECP2<\/jats:italic>) and, more rarely, cyclin-dependent kinase-like 5 (<jats:italic>CDKL5<\/jats:italic>) and forkhead box protein G1 (<jats:italic>FOXG1<\/jats:italic>). In this study, we aimed to evaluate the function of the immune system by measuring serum immunoglobulins (IgG and IgM) in RTT patients (<mml:math xmlns:mml=\"http:\/\/www.w3.org\/1998\/Math\/MathML\" id=\"M1\"><mml:mi>n<\/mml:mi><mml:mo>=<\/mml:mo><mml:mn>53<\/mml:mn><\/mml:math>) and, by comparison, in age-matched children affected by non-RTT pervasive developmental disorders (non-RTT PDD) (<mml:math xmlns:mml=\"http:\/\/www.w3.org\/1998\/Math\/MathML\" id=\"M2\"><mml:mi>n<\/mml:mi><mml:mo>=<\/mml:mo><mml:mn>82<\/mml:mn><\/mml:math>) and healthy age-matched controls (<mml:math xmlns:mml=\"http:\/\/www.w3.org\/1998\/Math\/MathML\" id=\"M3\"><mml:mi>n<\/mml:mi><mml:mo>=<\/mml:mo><mml:mn>29<\/mml:mn><\/mml:math>). To determine immunoglobulins we used both a conventional agglutination assay and a novel ELISA based on antibody recognition by a surrogate antigen probe, CSF114(Glc), a synthetic<jats:italic>N<\/jats:italic>-glucosylated peptide. Both assays provided evidence for an increase in IgM titer, but not in IgG, in RTT patients relative to both healthy controls and non-RTT PDD patients. The significant difference in IgM titers between RTT patients and healthy subjects in the CSF114(Glc) assay (<mml:math xmlns:mml=\"http:\/\/www.w3.org\/1998\/Math\/MathML\" id=\"M4\"><mml:mi>P<\/mml:mi><mml:mo>=<\/mml:mo><mml:mn>0.001<\/mml:mn><\/mml:math>) suggests that this procedure specifically detects a fraction of IgM antibodies likely to be relevant for the RTT disease. These findings offer a new insight into the mechanism underlying the Rett disease as they unveil the possible involvement of the immune system in this pathology.<\/jats:p>","DOI":"10.1155\/2014\/260973","type":"journal-article","created":{"date-parts":[[2014,10,15]],"date-time":"2014-10-15T17:06:14Z","timestamp":1413392774000},"page":"1-6","source":"Crossref","is-referenced-by-count":16,"title":["Immune Dysfunction in Rett Syndrome Patients Revealed by High Levels of Serum Anti-N(Glc) IgM Antibody Fraction"],"prefix":"10.1155","volume":"2014","author":[{"given":"Anna Maria","family":"Papini","sequence":"first","affiliation":[{"name":"Laboratory of Peptide and Protein Chemistry and Biology, University of Florence, Via della Lastruccia 13, 50019 Sesto Fiorentino, Italy"},{"name":"Department of Chemistry \u201cUgo Schiff\u201d, University of Florence, 50019 Sesto Fiorentino, Italy"},{"name":"Laboratory of PeptLab-SOSCO-EA4505, University of Cergy-Pontoise, 5 mail Gay Lussac, 95031 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