Peripheral lymphocyte subsets and other immune aspects in rett syndrome

Fiumara, Agata; Sciotto, A.; Barone, Rita; D'Asero, G; Munda, Silvana; Parano, Enrico; Pavone, Lorenzo

doi:10.1016/s0887-8994(99)00053-3

Cited by 29 publications

(23 citation statements)

References 4 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…In Rett's syndrome, which shows similar features of cognitive regression, mutations in methyl-CpG-binding protein 2 (MeCP2) disrupt the basic mechanism of gene regulation via DNA methylation throughout the body, 15,16 but abnormal immune function is apparent only on specific testing. 17 Of potential importance, the only report of colonoscopy in Rett's syndrome has identified extensive colonic lymphoid hyperplasia with melanosis coli, 18 essentially similar to our macroscopic findings in many cases of regressive autism. [1][2][3] There is undoubtedly a major genetic predisposition to autism, which is clearly polygenic.…”

Section: Discussionsupporting

confidence: 80%

Small intestinal enteropathy with epithelial IgG and complement deposition in children with regressive autism

et al. 2002

View full text Add to dashboard Cite

We have reported lymphocytic colitis in children with regressive autism, with epithelial damage prominent. We now compare duodenal biopsies in 25 children with regressive autism to 11 with coeliac disease, five with cerebral palsy and mental retardation and 18 histologically normal controls. Immunohistochemistry was performed for lymphocyte and epithelial lineage and functional markers. We determined the density of intraepithelial and lamina propria lymphocyte populations, and studied mucosal immunoglobulin and complement C1q localisation. Standard histopathology showed increased enterocyte and Paneth cell numbers in the autistic children. Immunohistochemistry demonstrated increased lymphocyte infiltration in both epithelium and lamina propria with upregulated crypt cell proliferation, compared to normal and cerebral palsy controls. Intraepithelial lymphocytes and lamina propria plasma cells were lower than in coeliac disease, but lamina propria T cell populations were higher and crypt proliferation similar. Most strikingly, IgG deposition was seen on the basolateral epithelial surface in 23/25 autistic children, co-localising with complement C1q. This was not seen in the other conditions. These findings demonstrate a novel form of enteropathy in autistic children, in which increases in mucosal lymphocyte density and crypt cell proliferation occur with epithelial IgG deposition. The features are suggestive of an autoimmune lesion.

show abstract

Section: Discussionsupporting

confidence: 80%

Small intestinal enteropathy with epithelial IgG and complement deposition in children with regressive autism

et al. 2002

View full text Add to dashboard Cite

show abstract

“…However, subsequent investigations showed that the urea cycle is normal in this disorder (Burd et al 1990). Analysis performed on blood, plasma and serum samples from RTT patients revealed either inconsistent abnormalities or no abnormalities (Riederer et al 1985;Plioplys et al 1994;Fiumara et al 1999). Early reports did not reveal biochemical abnormalities in urine from Rett syndrome patients either (Riederer et al 1985;Zoghbi et al 1985), although a more recent study of 53 RTT females revealed hyperpeptiduria in 81% of the cases (Solaas et al 2002).…”

Section: Abnormal Levels Of Biogenic Amine Metabolites In the Csf Of mentioning

confidence: 91%

Biogenic Amines in Rett Syndrome: The Usual Suspects

Roux

Villard

2009

Behav Genet

View full text Add to dashboard Cite

Rett syndrome (RTT) is a severe postnatal neurological disorder caused by mutations in the methyl-CpG binding protein 2 (MECP2) gene. In affected children, most biological parameters, including brain structure, are normal (although acquired microcephaly is usually present). However, in recent years, a deficit in bioaminergic metabolism has been identified at the cellular and molecular levels, in more than 200 patients. Recently available transgenic mouse strains with a defective Mecp2 gene also show abnormalities, strongly suggesting that there is a direct link between the function of the MECP2 protein and the metabolism of biogenic amines. Biogenic amines appear to have an important role in the pathophysiology of Rett syndrome, for several reasons. Firstly, biogenic amines modulate a large number of autonomic and cognitive functions. Secondly, many of these functions are affected in RTT patients. Thirdly, biogenic amines are the only neurotransmitters that have repeatedly been found to be altered in RTT patients. Importantly, pharmacological interventions can be envisaged to try to counteract the deficits observed. Here, we review the available human and mouse data and present how they have been and could be used in the development of pharmacological treatments for children affected by the syndrome. Given our current knowledge and the tools available, modulating biogenic amine metabolism may prove to be the most promising strategy for improving the life quality of Rett syndrome patients in the short term.

show abstract

“…NK cells are an important cytotoxic cell subset of the innate immune system and a major producer of cytokine. Reduced levels of circulating numbers of NK cells number and activity was observed in children with ASD and other related neurodevelopmental disorders, such as, Rett syndrome, compared with controls (Fiumara et al, 1999;Warren et al, 1987). In turn this reflects on its ability to eradicate or prevent viral infections in these children, which could potentially be damaging to neural tissues during critical windows of CNS development.…”

Section: Maternal Immune System Status Findingsmentioning

confidence: 99%

Autoimmunity in Autism Spectrum Disorders

Al-Ayadhi¹

2011

Autism - A Neurodevelopmental Journey From Genes to Behaviour

View full text Add to dashboard Cite

Peripheral lymphocyte subsets and other immune aspects in rett syndrome

Cited by 29 publications

References 4 publications

Small intestinal enteropathy with epithelial IgG and complement deposition in children with regressive autism

Small intestinal enteropathy with epithelial IgG and complement deposition in children with regressive autism

Biogenic Amines in Rett Syndrome: The Usual Suspects

Autoimmunity in Autism Spectrum Disorders

Contact Info

Product

Resources

About