title: Disease specificity of anti-tryptophan hydroxylase-1 and anti-AIE-75 autoantibodies in APECED and IPEX syndrome.
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.
authors.affiliation: Department of Pediatrics, Hokkaido University Graduate School of Medicine, Sapporo, Japan; Department of Dentistry for Children and Disabled Persons, Hokkaido University Graduate School of Dental Medicine, Sapporo, Japan.
authors.forename: Natsuko
authors.initials: N
authors.lastname: Chida
authors.affiliation: Department of Pediatrics, Hokkaido University Graduate School of Medicine, Sapporo, Japan. Electronic address: ichikobaya@med.hokudai.ac.jp.
authors.forename: Ichiro
authors.initials: I
authors.lastname: Kobayashi
authors.affiliation: Department of Pediatrics, Hokkaido University Graduate School of Medicine, Sapporo, Japan.
authors.forename: Shunichiro
authors.initials: S
authors.lastname: Takezaki
authors.affiliation: Department of Pediatrics, Hokkaido University Graduate School of Medicine, Sapporo, Japan.
authors.forename: Masahiro
authors.initials: M
authors.lastname: Ueki
authors.affiliation: Department of Pediatrics, Hokkaido University Graduate School of Medicine, Sapporo, Japan.
authors.forename: Yasuhiro
authors.initials: Y
authors.lastname: Yamazaki
authors.affiliation: Endocrine Unit, Department of Medicine, Padova University, Padova, Italy.
authors.forename: Silvia
authors.initials: S
authors.lastname: Garelli
authors.affiliation: Endocrine Unit, Department of Medicine, Padova University, Padova, Italy.
authors.forename: Riccardo
authors.initials: R
authors.lastname: Scarpa
authors.affiliation: Division of Endocrinology and Metabolism, Department of Medicine, National Center for Child Health and Development, Tokyo, Japan.
authors.forename: Reiko
authors.initials: R
authors.lastname: Horikawa
authors.affiliation: Department of Pediatrics, Hokkaido University Graduate School of Medicine, Sapporo, Japan.
authors.forename: Masafumi
authors.initials: M
authors.lastname: Yamada
authors.affiliation: Endocrine Unit, Department of Medicine, Padova University, Padova, Italy.
authors.forename: Corrado
authors.initials: C
authors.lastname: Betterle
authors.affiliation: Division of Immunology and The Manton Center for Orphan Disease Research, Children's Hospital Boston, Harvard Medical School, Boston, MA, USA.
authors.forename: Luigi D
authors.initials: LD
authors.lastname: Notarangelo
authors.affiliation: Department of Dentistry for Children and Disabled Persons, Hokkaido University Graduate School of Dental Medicine, Sapporo, Japan.
authors.forename: Yasutaka
authors.initials: Y
authors.lastname: Yawaka
authors.affiliation: Department of Pediatrics, Hokkaido University Graduate School of Medicine, Sapporo, Japan.
authors.forename: Tadashi
authors.initials: T
authors.lastname: Ariga
mesh_terms: D048868:Adaptor Proteins, Signal Transducing / Q000378:metabolism*; D001323:Autoantibodies / Q000097:blood*; D018797:Cell Cycle Proteins; D003598:Cytoskeletal Proteins; D003922:Diabetes Mellitus, Type 1 / Q000151:congenital; D003937:Diagnosis, Differential; D003967:Diarrhea; D040181:Genetic Diseases, X-Linked / Q000175:diagnosis / Q000276:immunology; D007154:Immune System Diseases / Q000151:congenital; D007108:Immune Tolerance; D015151:Immunoblotting; D016884:Polyendocrinopathies, Autoimmune / Q000175:diagnosis / Q000276:immunology*; D014365:Tryptophan Hydroxylase / Q000378:metabolism*
chemical_list: D048868:Adaptor Proteins, Signal Transducing; D001323:Autoantibodies; D018797:Cell Cycle Proteins; D003598:Cytoskeletal Proteins; C118970:USH1C protein, human; C497467:TPH1 protein, human; D014365:Tryptophan Hydroxylase
keywords: AIE-75;; APECED;; IPEX syndrome; Tryptophan hydroxylase;; Villin;