title: Gastrointestinal immunity against tryptophan hydroxylase-1, aromatic L-amino-acid decarboxylase, AIE-75, villin and Paneth cells in APECED.
abstract: Gastrointestinal dysfunction is a disabling manifestation of APECED possibly related to an autoimmune intestinal aggression. We evaluated its features in a cohort of 31 Finnish patients. The most frequent manifestations were constipation (48%), diarrhea, dysphagia and retrosternal pain (45%). AADC and TPH-1 autoantibodies were detected in 51% and 45% of the patients, respectively. Forty-three percent displayed a T-cell response to AADC. One third of the patients also had AIE-75 (33%) and villin (29%)-specific autoantibodies while antibodies against brush borders and Paneth cells were detected in 29% and 20%, respectively. Intestinal IL-17 expression was absent/decreased in 77% of the cases. Duodenal CgA and serotonin expression was absent/decreased in 50% and 66% of the patients, respectively. Constipation correlated with lacking serotonin expression and AADC antibodies (p < 0.05).
authors: University of Helsinki and Helsinki University Central Hospital, Department of Dermatology and Allergology, Meilahdentie 2, P.O. Box 160, FIN-00029 HUS, Finland. Electronic address: nicolaskluger@yahoo.fr.
authors: Nicolas
authors: N
authors: Kluger
authors: University of Helsinki and Helsinki University Central Hospital, Department of Dermatology and Allergology, Meilahdentie 2, P.O. Box 160, FIN-00029 HUS, Finland.
authors: Martta
authors: M
authors: Jokinen
authors: University of Helsinki and Helsinki University Central Hospital, Department of Dermatology and Allergology, Meilahdentie 2, P.O. Box 160, FIN-00029 HUS, Finland.
authors: Anu
authors: A
authors: Lintulahti
authors: Clinical Research Institute HUCH Ltd, Biomedicum Helsinki 1, Haartmaninkatu 8, FI-00290 PO Box 700, FI-00029 HUS, Helsinki, Finland.
authors: Kai
authors: K
authors: Krohn
authors: University of Helsinki and Helsinki University Central Hospital, Department of Dermatology and Allergology, Meilahdentie 2, P.O. Box 160, FIN-00029 HUS, Finland.
authors: Annamari
authors: A
authors: Ranki
mesh_terms: D048868:Adaptor Proteins, Signal Transducing / Q000276:immunology*; D001142:Aromatic-L-Amino-Acid Decarboxylases / Q000276:immunology*; D018797:Cell Cycle Proteins; D003598:Cytoskeletal Proteins; D005387:Finland; D005767:Gastrointestinal Diseases / Q000209:etiology* / Q000276:immunology*; D005786:Gene Expression Regulation; D006801:Humans; D020381:Interleukin-17 / Q000276:immunology / Q000378:metabolism; D007963:Leukocytes, Mononuclear / Q000378:metabolism; D008840:Microfilament Proteins / Q000276:immunology; D019879:Paneth Cells / Q000276:immunology; D016884:Polyendocrinopathies, Autoimmune / Q000150:complications*; D014365:Tryptophan Hydroxylase / Q000276:immunology*
chemical_list: D048868:Adaptor Proteins, Signal Transducing; D018797:Cell Cycle Proteins; D003598:Cytoskeletal Proteins; D020381:Interleukin-17; D008840:Microfilament Proteins; C118970:USH1C protein, human; C026615:villin; C497467:TPH1 protein, human; D014365:Tryptophan Hydroxylase; D001142:Aromatic-L-Amino-Acid Decarboxylases
keywords: Autoimmune polyendocrine syndrome type 1; Constipation; Diarrhea; Enteroendocrine cells; Paneth cells