Autism Research and Treatment

Autism: Where Genetics Meets the Immune System

Publishing date
15 Mar 2012
Submission deadline
15 Sep 2011

1Laboratory of Molecular Psychiatry & Neurogenetics, University Campus Bio-Medico of Rome, Via Alvaro del Portillo 21, 00128 Rome, Italy

2Department of Neurology, The Johns Hopkins Hospital, Pathology Building, Room 627, 600 N. Wolfe Street, Baltimore, MD 21287, USA

3Division of Rheumatology/Allergy and Clinical Immunology, UC Davis, 451 Health Science Drive, Suite 6510, GBSF, Davis, CA 95616, USA

Autism: Where Genetics Meets the Immune System


Autism is a neurodevelopmental disorder diagnosed by 3 years of age on the basis of impaired social interaction and communication, as well as presence of rigid and stereotyped behaviors. Altered prenatal and early-postnatal neurodevelopment plays a pivotal role in autism pathogenesis. Family and twin studies have conclusively demonstrated that autism displays the most prominent genetic contributions among all neuropsychiatric disorders. Yet, the identification of these genetic underpinnings has proven more complex than anticipated, and two decades of genetic investigation have unveiled relatively few cases which can be solely explained on the basis of de novo mutations or cytogenetic abnormalities. The vast majority of gene variants or CNVs associated with autism either confer vulnerability or protection but do not directly cause the disease. While this may stem from genetic heterogeneity, epigenetic events, gene-gene and gene-environment interactions, converging lines of evidence support prominent immune abnormalities in many autistic individuals and even in their first-degree relatives, as well as relevant roles in neurodevelopment for molecules traditionally identified as involved in innate or acquired immunity.

This crosstalk between the nervous and immune system poses some questions fundamental to the definition of a pathophysiological construct able to explain autism in most cases. We are particularly interested in manuscripts addressing, under any perspective, two critical questions: (a) how and to what extent is abnormal immunity compatible with high heritability in autism? Is it genetically driven? And (b) how and to what extent is abnormal immunity responsible for the autistic phenotype? Or is it merely an innocent by-standing condition with no immediate link to autistic symptoms? Potential topics include, but are not limited to:

  • Autism genes playing functional roles in the immune system
  • Immune abnormalities in syndromic forms of autism due to genetic mutations or chromosomal rearrangements
  • Influence of immune system responses on neurodevelopment and the risk of ASD
  • Environmental-immune interactions during development and ASD pathogenesis
  • Peripheral markers of abnormal immunity in ASD
  • Microglial activation, cytokines, and neuropathology
  • Physiological roles for immune molecules in neurodevelopment
  • Animal models of autism implicating altered immunity
  • Altered immunity as a familial endophenotype in ASD
  • Immune-based pharmacological interventions

Before submission authors should carefully read over the journal's Author Guidelines, which are located at Prospective authors should submit an electronic copy of their complete manuscript through the journal Manuscript Tracking System at according to the following timetable:


  • Special Issue
  • - Volume 2012
  • - Article ID 486359
  • - Editorial

Autism: Where Genetics Meets the Immune System

Antonio M. Persico | Judy Van de Water | Carlos A. Pardo
  • Special Issue
  • - Volume 2012
  • - Article ID 910946
  • - Review Article

Is Autism a Member of a Family of Diseases Resulting from Genetic/Cultural Mismatches? Implications for Treatment and Prevention

Staci D. Bilbo | John P. Jones | William Parker
  • Special Issue
  • - Volume 2012
  • - Article ID 190930
  • - Research Article

Prenatal and Postnatal Epigenetic Programming: Implications for GI, Immune, and Neuronal Function in Autism

Mostafa I. Waly | Mady Hornig | ... | Richard Deth
  • Special Issue
  • - Volume 2012
  • - Article ID 205362
  • - Research Article

Decreased Levels of EGF in Plasma of Children with Autism Spectrum Disorder

Charity Onore | Judy Van de Water | Paul Ashwood
  • Special Issue
  • - Volume 2012
  • - Article ID 959073
  • - Review Article

HLA Immune Function Genes in Autism

Anthony R. Torres | Jonna B. Westover | Allen J. Rosenspire
  • Special Issue
  • - Volume 2012
  • - Article ID 986519
  • - Research Article

Intracellular and Extracellular Redox Status and Free Radical Generation in Primary Immune Cells from Children with Autism

Shannon Rose | Stepan Melnyk | ... | S. Jill James
  • Special Issue
  • - Volume 2012
  • - Article ID 868576
  • - Clinical Study

High Complement Factor I Activity in the Plasma of Children with Autism Spectrum Disorders

Naghi Momeni | Lars Brudin | ... | Bengt L. Persson
Autism Research and Treatment
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