Author/Authors :
Chida، نويسنده , , Natsuko and Kobayashi، نويسنده , , Ichiro and Takezaki، نويسنده , , Shunichiro and Ueki، نويسنده , , Masahiro and Yamazaki، نويسنده , , Yasuhiro and Garelli، نويسنده , , Silvia and Scarpa، نويسنده , , Riccardo and Horikawa، نويسنده , , Reiko and Yamada، نويسنده , , Masafumi and Betterle، نويسنده , , Corrado and Notarangelo، نويسنده , , Luigi D. and Yawaka، نويسنده , , Yasutaka ، نويسنده ,
Abstract :
Autoantibodies to autoimmune enteropathy-related 75 kDa antigen (AIE-75) and villin are disease markers of immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome which is characterized by a peripheral tolerance defect. On the other hand, anti-tryptophan hydroxylase-1 (TPH-1) antibodies are detected in autoimmune polyendocrinopathy, candidiasis, ectodermal dystrophy (APECED), a central tolerance defect, especially when complicated with gastrointestinal dysfunction. However, to date, anti-AIE-75 and anti-villin antibodies or anti-TPH-1 antibodies have not been tested in APECED or IPEX syndrome, respectively. In the present study, we confirmed the disease specificity of both anti-AIE-75 and anti-TPH-1, although anti-villin antibodies were detected in some patients with APECED. Our observation suggests that immunotolerance to AIE-75 depends on the peripheral mechanism, whereas the tolerance to TPH-1 depends on the central mechanisms.
Keywords :
AIE-75 , villin , APECED , Tryptophan hydroxylase , IPEX syndrome
