What is the relationship between autoimmune or immune dysfunction and Autism Spectrum Disorder (ASD)?

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Last updated: February 21, 2025View editorial policy

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From the Guidelines

There is a potential link between immune system dysfunction and autism, but more research is needed to fully understand the connection, as evidenced by the most recent study in 2019 1. Key points about the potential immune-autism link:

  • Immune abnormalities: Some people with ASD show signs of immune dysregulation, including increased inflammatory markers and autoantibodies.
  • Maternal immune activation: Prenatal exposure to maternal immune activation (e.g. infections during pregnancy) may increase autism risk in offspring.
  • Gut-brain connection: Altered gut microbiome and intestinal permeability in ASD may influence immune function and brain development.
  • Genetic factors: Some genes associated with ASD are also involved in immune regulation, as seen in the study of germline heterozygous pten mutations 1.
  • Neuroinflammation: Evidence of increased inflammatory activity in the brains of some individuals with ASD. While these findings suggest a possible connection, there is currently no proven causal link between immune dysfunction and autism. More research is needed to determine if immune-based treatments could potentially benefit some individuals with ASD, as recommended by the practice parameter for the assessment and treatment of children and adolescents with autism spectrum disorder 1. Parents should consult with healthcare providers before pursuing any immune-modulating therapies, as evidence for their effectiveness in ASD is limited. The importance of a comprehensive medical assessment, including genetic testing and evaluation for co-occurring medical and mental health conditions, is highlighted in the study from 2015 1.

From the Research

Relationship Between Autoimmune or Immune Dysfunction and Autism Spectrum Disorder (ASD)

  • Autism Spectrum Disorders (ASD) are a group of heterogeneous neurological disorders characterized by deficits in social interactions, communication, and stereotypical behaviors 2.
  • Research suggests that immune dysfunction and autoimmunity may play a role in the pathogenesis of ASD, with many studies reporting altered immune responses, including skewed cytokine profiles, differences in immune cell frequencies, and the presence of autoantibodies 2, 3, 4, 5.
  • Studies have found that individuals with ASD have increased percentages of certain immune cells, such as CD8(+) T-cells and B-cells, and decreased percentages of others, such as NKT cells 3.
  • Immune dysfunction in ASD may be associated with ongoing inflammation in the brain, elevated pro-inflammatory cytokine profiles, and altered immune cell function 5.
  • The evidence suggests that immune processes play a key role in the pathophysiology of ASD, and that manipulation of the immune response could potentially impact behavior and immunity in ASD 5.
  • While the exact relationship between autoimmune or immune dysfunction and ASD is still not fully understood, research continues to explore the complex multifaceted relationship between immune dysfunction and behavior in ASD 2, 6, 4, 5.

References

Guideline

Guideline Directed Topic Overview

Dr.Oracle Medical Advisory Board & Editors, 2025

Research

Characterization of immune cell phenotypes in adults with autism spectrum disorders.

Journal of investigative medicine : the official publication of the American Federation for Clinical Research, 2016

Research

Is autism an autoimmune disease?

Autoimmunity reviews, 2004

Professional Medical Disclaimer

This information is intended for healthcare professionals. Any medical decision-making should rely on clinical judgment and independently verified information. The content provided herein does not replace professional discretion and should be considered supplementary to established clinical guidelines. Healthcare providers should verify all information against primary literature and current practice standards before application in patient care. Dr.Oracle assumes no liability for clinical decisions based on this content.

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