The phenotypical implications of immune dysregulation in fragile X syndrome

Immune system dysfunction and inflammatory dysregulation have been shown in several animal models of fragile X syndrome (FXS). However, the phenotypical implications of this dysregulation have not been systematically evaluated in a large patient cohort.

[1]  W. Grueber,et al.  A Drosophila model of Fragile X syndrome exhibits defects in phagocytosis by innate immune cells , 2017, The Journal of cell biology.

[2]  Marylyn D. Ritchie,et al.  PheWAS: demonstrating the feasibility of a phenome-wide scan to discover gene–disease associations , 2010, Bioinform..

[3]  J. Darnell,et al.  The translation of translational control by FMRP: therapeutic targets for FXS , 2013, Nature Neuroscience.

[4]  E. Berry-Kravis,et al.  Fragile X Syndrome: A Review of Associated Medical Problems , 2014, Pediatrics.

[5]  Yasuomi Ouchi,et al.  Microglial activation in young adults with autism spectrum disorder. , 2013, JAMA psychiatry.

[6]  Mark F Bear,et al.  The pathophysiology of fragile X (and what it teaches us about synapses). , 2012, Annual review of neuroscience.

[7]  M. Bear,et al.  Gene expression analysis in Fmr1KO mice identifies an immunological signature in brain tissue and mGluR5-related signaling in primary neuronal cultures , 2015, Molecular Autism.

[8]  A. McAllister,et al.  Immune mediators in the brain and peripheral tissues in autism spectrum disorder , 2015, Nature Reviews Neuroscience.

[9]  Mary A. Logan Fragile phagocytes: FMRP positively regulates engulfment activity , 2017, The Journal of cell biology.

[10]  Heather Cody Hazlett,et al.  Fragile X syndrome , 2017, Nature Reviews Disease Primers.

[11]  Shannon E. Ellis,et al.  Transcriptome analysis reveals dysregulation of innate immune response genes and neuronal activity-dependent genes in autism , 2014, Nature Communications.

[12]  Kathe P. Fox,et al.  Data-driven analyses revealed the comorbidity landscape of tuberous sclerosis complex , 2018, Neurology.

[13]  W. Greenough,et al.  From mRNP trafficking to spine dysmorphogenesis: the roots of fragile X syndrome , 2005, Nature Reviews Neuroscience.

[14]  R. Hagerman,et al.  Recurrent otitis media in the fragile X syndrome. , 1987, American journal of diseases of children.