Analysis of the Role of AIRE in Autoimmune Neurological Diseases Associated With Autoantibodies
Studying genetic predisposition in autoimmune neurological diseases could help improve diagnostic accuracy and offer new treatment possibilities
⁃ For the first cohort, the inclusion criteria were:
• Patients diagnosed with NMOSD associated with AQP4 autoantibodies who meet the 2015 diagnostic criteria and have at least one of the listed autoimmune comorbidities.
• Patients diagnosed with myasthenia gravis associated with AChR autoantibodies who also have another autoimmune comorbidity from the list.
• Patients diagnosed with autoimmune encephalitis who are positive for LGI1 and CASPR2 autoantibodies and have at least one additional autoimmune comorbidity.
⁃ The second cohort included adults with dominant pathogenic AIRE mutations or homozygous AIRE mutations.