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Article

Case Report: MECP2 and SH3KBP1 variants associated with autism spectrum disorder and immune dysregulation.

Frontiers in immunology - 1 Jan 2026

Marin-Llobet Arnau, Hernando-Davalillo Cristina, Baide-Mairena Heidy, Llobet-Agullo Pilar, Fornes Garcia Neus, Perez-Herrera Veronica, Baro-Serrano Anna

Abstract excerpt

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...

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Topics

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Share to Adaptor Proteins, Signal Transducing
Share to Autism Spectrum Disorder

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Child, Preschool

Share to Chromosomes, Human, X

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Share to Genetic Predisposition to Disease

Share to Methyl-CpG-Binding Protein 2

Source

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Identifiers

PMID: 42375371
DOI: 10.3389/fimmu.2026.1814088
PMCID: PMC13310728

Genes

MECP2
SH3KBP1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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