ArticleFrontiers in immunology2026
Case Report: MECP2 and SH3KBP1 variants associated with autism spectrum disorder and immune dysregulation.
Article in Frontiers in immunology, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Autism Spectrum Disorder (ASD) is a heterogeneous neurodevelopmental condition characterized by impairments in social communication and restricted, repetitive behaviors. Increasing evidence suggests that immune dysregulation may be present in a subset of individuals with neurodevelopmental disorders, although its role in ASD remains incompletely understood. We report two male patients with ASD, neurodevelopmental delay, immune dysregulation, and congenital cardiac anomalies. Genetic analysis using chromosomal microarray (CMA) identified distinct copy number variants on the X chromosome in each case. In patient 1, a duplication of the Xq28 region encompassing the
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