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

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

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

Yael Gruper, Anette S. B. Wolff (), Liad Glanz, Frantisek Spoutil, Mihaela Cuida Marthinussen, Adriana Osickova, Yonatan Herzig, Yael Goldfarb, Goretti Aranaz-Novaliches, Jan Dobeš, Noam Kadouri, Osher Ben-Nun, Amit Binyamin, Bar Lavi, Tal Givony, Razi Khalaila, Tom Gome, Tomáš Wald, Blanka Mrazkova, Carmel Sochen, Marine Besnard, Shifra Ben-Dor, Ester Feldmesser, Elisaveta M. Orlova, Csaba Hegedűs, 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 and Jakub Abramson ()
Additional contact information
Yael Gruper: Weizmann Institute of Science
Anette S. B. Wolff: University of Bergen
Liad Glanz: Weizmann Institute of Science
Frantisek Spoutil: Institute of Molecular Genetics of the Czech Academy of Sciences v.v.i 252 50
Mihaela Cuida Marthinussen: University of Bergen
Adriana Osickova: Institute of Microbiology of the Czech Academy of Sciences
Yonatan Herzig: Weizmann Institute of Science
Yael Goldfarb: Weizmann Institute of Science
Goretti Aranaz-Novaliches: Institute of Molecular Genetics of the Czech Academy of Sciences v.v.i 252 50
Jan Dobeš: Weizmann Institute of Science
Noam Kadouri: Weizmann Institute of Science
Osher Ben-Nun: Weizmann Institute of Science
Amit Binyamin: Weizmann Institute of Science
Bar Lavi: Weizmann Institute of Science
Tal Givony: Weizmann Institute of Science
Razi Khalaila: Weizmann Institute of Science
Tom Gome: Weizmann Institute of Science
Tomáš Wald: Institute of Microbiology of the Czech Academy of Sciences
Blanka Mrazkova: Institute of Molecular Genetics of the Czech Academy of Sciences v.v.i 252 50
Carmel Sochen: Weizmann Institute of Science
Marine Besnard: Nantes Université, INSERM, Center for Research in Transplantation and Translational Immunology, UMR 1064
Shifra Ben-Dor: Weizmann Institute of Science
Ester Feldmesser: Weizmann Institute of Science
Elisaveta M. Orlova: Institute of Pediatric Endocrinology
Csaba Hegedűs: University of Debrecen
István Lampé: University of Debrecen
Tamás Papp: University of Debrecen
Szabolcs Felszeghy: University of Debrecen
Radislav Sedlacek: Institute of Molecular Genetics of the Czech Academy of Sciences v.v.i 252 50
Esti Davidovich: The Hebrew University-Hadassah School of Dental Medicine
Noa Tal: Schneider Children’s Medical Center of Israel
Dror S. Shouval: Schneider Children’s Medical Center of Israel
Raanan Shamir: Schneider Children’s Medical Center of Israel
Carole Guillonneau: Nantes Université, INSERM, Center for Research in Transplantation and Translational Immunology, UMR 1064
Zsuzsa Szondy: University of Debrecen
Knut E. A. Lundin: University of Oslo
Radim Osicka: Institute of Microbiology of the Czech Academy of Sciences
Jan Prochazka: Institute of Molecular Genetics of the Czech Academy of Sciences v.v.i 252 50
Eystein S. Husebye: University of Bergen
Jakub Abramson: Weizmann Institute of Science

Nature, 2023, vol. 624, issue 7992, 653-662

Abstract: Abstract Ameloblasts are specialized epithelial cells in the jaw that have an indispensable role in tooth enamel formation—amelogenesis1. 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 imperfecta2. Defects in enamel formation are also found in patients with autoimmune polyglandular syndrome type-1 (APS-1), caused by AIRE deficiency3,4, and in patients diagnosed with coeliac disease5–7. However, the underlying mechanisms remain unclear. Here we show that the vast majority of patients with APS-1 and coeliac disease develop autoantibodies (mostly of the IgA isotype) against ameloblast-specific proteins, the expression of which is induced by AIRE in the thymus. This in turn results in a breakdown of central tolerance, and subsequent generation of corresponding autoantibodies that interfere with enamel formation. However, in coeliac disease, the generation of such autoantibodies seems to be driven by a breakdown of peripheral tolerance to intestinal antigens that are also expressed in enamel tissue. Both conditions are examples of a previously unidentified type of IgA-dependent autoimmune disorder that we collectively name autoimmune amelogenesis imperfecta.

Date: 2023
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DOI: 10.1038/s41586-023-06776-0

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