Immune Dysfunction in Rett Syndrome Patients Revealed by High Levels of Serum Anti-N(Glc) IgM Antibody Fraction
Joint Authors
Guerranti, Roberto
Nuti, Francesca
Real-Fernandez, Feliciana
Rossi, Giada
Tiberi, Caterina
Sabatino, Giuseppina
Pandey, Shashank
Lavielle, Solange
Rovero, Paolo
Hayek, Joussef
Pecorelli, Alessandra
Leoncini, Silvia
Papini, Anna Maria
Signorini, Cinzia
Ciccoli, Lucia
De Felice, Claudio
Source
Journal of Immunology Research
Issue
Vol. 2014, Issue 2014 (31 Dec. 2014), pp.1-6, 6 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2014-10-15
Country of Publication
Egypt
No. of Pages
6
Main Subjects
Abstract EN
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 (MECP2) and, more rarely, cyclin-dependent kinase-like 5 (CDKL5) and forkhead box protein G1 (FOXG1).
In this study, we aimed to evaluate the function of the immune system by measuring serum immunoglobulins (IgG and IgM) in RTT patients (n=53) and, by comparison, in age-matched children affected by non-RTT pervasive developmental disorders (non-RTT PDD) (n=82) and healthy age-matched controls (n=29).
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 N-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 (P=0.001) 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.
American Psychological Association (APA)
Papini, Anna Maria& Nuti, Francesca& Real-Fernandez, Feliciana& Rossi, Giada& Tiberi, Caterina& Sabatino, Giuseppina…[et al.]. 2014. Immune Dysfunction in Rett Syndrome Patients Revealed by High Levels of Serum Anti-N(Glc) IgM Antibody Fraction. Journal of Immunology Research،Vol. 2014, no. 2014, pp.1-6.
https://search.emarefa.net/detail/BIM-1040803
Modern Language Association (MLA)
Papini, Anna Maria…[et al.]. Immune Dysfunction in Rett Syndrome Patients Revealed by High Levels of Serum Anti-N(Glc) IgM Antibody Fraction. Journal of Immunology Research No. 2014 (2014), pp.1-6.
https://search.emarefa.net/detail/BIM-1040803
American Medical Association (AMA)
Papini, Anna Maria& Nuti, Francesca& Real-Fernandez, Feliciana& Rossi, Giada& Tiberi, Caterina& Sabatino, Giuseppina…[et al.]. Immune Dysfunction in Rett Syndrome Patients Revealed by High Levels of Serum Anti-N(Glc) IgM Antibody Fraction. Journal of Immunology Research. 2014. Vol. 2014, no. 2014, pp.1-6.
https://search.emarefa.net/detail/BIM-1040803
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1040803