Evaluation of the immune status in children with autism spectrum disorders associated with genetic folate cycle deficiency

Children with autism spectrum disorders have repeatedly reported the presence of signs of immunodeficiency and immune dysregulation. Objective: to study the association of genetic folate cycle deficiency with violations of various parameters of the immune status in children with autism spectrum disorders. Study group (SG) were 78 children with a genetic folate cycle deficiency and autism spectrum disorders. The control group (CG) was formed by 34 healthy patients the appropriate age and gender. All participants underwent a comprehensive immunological examination during the observation period (2–5 years). Statistical analysis was performed using the method of variation statistics with Student’s T-test and non-parametric test of signs Z by Urbach. In addition, the calculated χ-squared Pearson criteria, odds ratio and 95% confidence interval. It was significantly lower average number of NK- and NKT-cells and myeloperoxidase in the peripheral blood of SG children compared to the CG (P > 0,05; Z > Z0,05). A relationship of genetic folate cycle deficiency with selective deficiency of the NK- (χ2 = 37,69, P = 0,01; OR = 11,18, 95 % CI = 4,34–28,50; α = 0,05) and NKT-cells (χ2 = 38,01, P = 0,01; OR = 18,08, 95 % CI = 6,42–50,41; α = 0,05) and myeloperoxidase (χ2 = 6,43, P = 0,05; OR = 3,97, 95 % CI = 1,27–12,42; α = 0,05) was observed. Discovered violations of immune status may explain the origin of the well-known broad clinical phenotype in children with autistic spectrum disoders. We described a new form of primary immunodeficiency associated with a genetic folate cycle disorder, with predominant involvement of NK- and NKT-cells.