Gastrointestinal immunity against tryptophan hydroxylase-1, aromatic L-amino-acid decarboxylase, AIE-75, villin and Paneth cells in APECED.

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).