Immunology and Genetics of Autism Spectrum Disorders and Retrospective Evaluation of Clinical Responses to Regular Immunoglobulin Replacement Therapy

Background: The results of the studies on the aetiology, pathogenesis, and treatment recommendations of Autism Spectrum Disorder (ASD) in different age groups are limited. We analysed ASD patients immunogenetically and analysed the effects of regular intravenous immunoglobulin (IVIG) treatment on their quality of life and clinical improvement. Methods: Information about 96 patients was obtained from hospital system records and patient files. Results: Seventy-seven patients were male (M/F-3.4/1; p=0.001). In lymphocyte subsets of the patients, mean gamma-delta (γδ) T cell percentages were high, whereas mean naive CD8 T cell percentages were low in all age groups. Parents of 51 patients completed the quality of life questionnaire. The mean score was 41 (±10.26) before IVIG and 72.67 (±9.79) after IVIG. They were significantly different (p=0.001), and the effect size was 𝑡 = -23.001. Whole Exome Sequencing (WES) analysis was performed in 21 of 51 patients, and 27 mutations were associated with ASD. Conclusions: Regular IVIG treatment significantly improved ASD symptoms and family quality of life.