Case Report: MECP2 and SH3KBP1 variants associated with autism spectrum disorder and immune dysregulation - Takeaways - MDSpire

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

  • By

  • Arnau Marin-Llobet

  • Cristina Hernando-Davalillo

  • Heidy Baide-Mairena

  • Pilar Llobet-Agullo

  • Neus Fornes Garcia

  • Veronica Perez-Herrera

  • Anna Baro-Serrano

  • June 15, 2026

  • 0 min

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  • 1

    Two male patients with Autism Spectrum Disorder (ASD) exhibited immune dysregulation and congenital cardiac anomalies.

  • 2

    Patient 1 had a duplication of the MECP2 gene, consistent with MECP2 duplication syndrome, presenting with milder symptoms.

  • 3

    Patient 2 had a hemizygous deletion involving the SH3KBP1 gene, classified as a variant of uncertain significance, linked to immune dysfunction.

  • 4

    Both cases highlight the importance of comprehensive genetic testing in patients with complex neurodevelopmental and systemic presentations.

  • 5

    The findings support the need for immunological evaluation in ASD patients with recurrent infections or additional systemic abnormalities.

Original Source(s)

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

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

  • June 15, 2026

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