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Autoimmune amelogenesis imperfecta in patients with APS-1 and coeliac disease

Nature. 2023-11; 
Yael Gruper, Anette S B Wolff, Liad Glanz, Frantisek Spoutil, Mihaela Cuida Marthinussen, Adriana Osickova, Yonatan Herzig, Yael Goldfarb, Goretti Aranaz-Novaliches, Jan Dobe?, Noam Kadouri, Osher Ben-Nun, Amit Binyamin, Bar Lavi, Tal Givony, Razi Khalaila, Tom Gome, Tomá? Wald, Blanka Mrazkova, Carmel Sochen, Marine Besnard, Shifra Ben-Dor, Ester Feldmesser, Elisaveta M Orlova, Csaba Heged?s, István Lampé, Tamás Papp, Szabolcs Felszeghy, Radislav Sedlacek, Esti Davidovich, Noa Tal, Dror S Shouval, Raanan Shamir, Carole Guillonneau, Zsuzsa Szondy, Knut E A Lundin, Radim Osicka, Jan Prochazka, Eystein S Husebye, Jakub Abramson
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摘要

Ameloblasts are specialized epithelial cells in the jaw that have an indispensable role in tooth enamel formation-amelogenesis. Amelogenesis depends on multiple ameloblast-derived proteins that function as a scaffold for hydroxyapatite crystals. The loss of function of ameloblast-derived proteins results in a group of rare congenital disorders called amelogenesis imperfecta. Defects in enamel formation are also found in patients with autoimmune polyglandular syndrome type-1 (APS-1), caused by AIRE deficiency, and in patients diagnosed with coeliac disease. However, the underlying mechanisms remain unclear. Here we show that the vast majority of patients with APS-1 and coeliac disease develop autoantibodies (mos... More

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