Inborn errors of immunity present with neuropsychiatric symptoms overlapping with autistic behavioral symptoms DOI Open Access

Harumi Jyonouchi

Journal of Translational Genetics and Genomics, Journal Year: 2023, Volume and Issue: 7(4), P. 274 - 90

Published: Dec. 22, 2023

Autism spectrum disorder (ASD) is a behaviorally defined syndrome affected by multiple genetic and environmental factors. A wide variety of risk factors for ASD have been identified many these affect immune functions. This may not be surprising, since the system nervous share common signaling mechanisms each other as part neuroimmune network. The ever-expanding scope inborn errors immunity (IEIs) has revealed pathogenic gene variants that manifest overlapping clinical features neuropsychiatric diseases, including ASD. These IEIs often cause dysregulated activation resultant chronic inflammation affecting organs. Some also changes in morphogenesis plasticity central system. Such patients present with puzzling array some them diagnosed or conditions. progress our understanding disease at molecular levels led to gene-specific treatment measures diseases. In addition, are found laboratory findings neuroinflammation resemble those seen IEI patients. pave way applying specific used such review focuses on describing Emphasis can treated targeting mechanisms. information helpful clinicians who considering genetic/metabolic workup

Language: Английский

Inborn errors of immunity present with neuropsychiatric symptoms overlapping with autistic behavioral symptoms DOI Open Access

Harumi Jyonouchi

Journal of Translational Genetics and Genomics, Journal Year: 2023, Volume and Issue: 7(4), P. 274 - 90

Published: Dec. 22, 2023

Autism spectrum disorder (ASD) is a behaviorally defined syndrome affected by multiple genetic and environmental factors. A wide variety of risk factors for ASD have been identified many these affect immune functions. This may not be surprising, since the system nervous share common signaling mechanisms each other as part neuroimmune network. The ever-expanding scope inborn errors immunity (IEIs) has revealed pathogenic gene variants that manifest overlapping clinical features neuropsychiatric diseases, including ASD. These IEIs often cause dysregulated activation resultant chronic inflammation affecting organs. Some also changes in morphogenesis plasticity central system. Such patients present with puzzling array some them diagnosed or conditions. progress our understanding disease at molecular levels led to gene-specific treatment measures diseases. In addition, are found laboratory findings neuroinflammation resemble those seen IEI patients. pave way applying specific used such review focuses on describing Emphasis can treated targeting mechanisms. information helpful clinicians who considering genetic/metabolic workup

Language: Английский

Citations

0