40
Participants
Start Date
November 6, 2024
Primary Completion Date
January 6, 2027
Study Completion Date
January 6, 2027
Test for AQP4, AChR, LGI1, and CASPR2 autoantibodies using cell-based assay
To evaluate the prevalence of specific autoantibodies (AQP4, AChR, LGI1, and CASPR2) in the population of patients carrying AIRE mutations (second cohort)
AIRE single gene sequencing
To assess the prevalence of AIRE gene mutations in patients with NMOSD associated with AQP4 autoantibodies, myasthenia gravis (MG) associated with AChR autoantibodies, acquired neuromyotonia, and autoimmune encephalitis associated with CASPR2 and LGI1 autoantibodies (first cohort)
Molecular typing of HLA class I and II alleles
To assess the HLA haplotypes of class I and II by comparing patients with and without AIRE mutations, as well as those with and without autoimmune neurological diseases
RECRUITING
Fondazione Policlinico Universitario Agostino Gemelli, IRCSS Roma, Roma
University of Bergen
OTHER
Fondazione Policlinico Universitario Agostino Gemelli IRCCS
OTHER