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

Y. Gruper, ASB. Wolff, L. Glanz, F. Spoutil, MC. Marthinussen, A. Osickova, Y. Herzig, Y. Goldfarb, G. Aranaz-Novaliches, J. Dobeš, N. Kadouri, O. Ben-Nun, A. Binyamin, B. Lavi, T. Givony, R. Khalaila, T. Gome, T. Wald, B. Mrazkova, C. Sochen, M....

. 2023 ; 624 (7992) : 653-662. [pub] 20231122

Language English Country England, Great Britain

Document type Journal Article

Persistent link   https://www.medvik.cz/link/bmc24000343

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.

Bioinformatics Unit Life Sciences Core Facilities Weizmann Institute of Science Rehovot Israel

Czech Centre for Phenogenomics and Laboratory of Transgenic Models of Diseases Institute of Molecular Genetics of the Czech Academy of Sciences v v i 252 50 Vestec Czech Republic

Department of Biochemistry and Molecular Biology Faculty of Medicine University of Debrecen Debrecen Hungary

Department of Biomaterials and Prosthetic Dentistry Faculty of Dentistry University of Debrecen Debrecen Hungary

Department of Cell Biology Faculty of Science Charles University Prague Czech Republic

Department of Clinical Dentistry Faculty of Medicine University of Bergen Bergen Norway

Department of Clinical Science and K G Jebsen Center for Autoimmune Disorders University of Bergen Bergen Norway

Department of Gastroenterology Oslo University Hospital Oslo Norway

Department of Immunology and Regenerative Biology Weizmann Institute of Science Rehovot Israel

Department of Medicine Haukeland University Hospital Bergen Norway

Department of Pediatric Dentistry The Hebrew University Hadassah School of Dental Medicine Jerusalem Israel

Division of Dental Anatomy Department of Basic Medical Sciences Faculty of Dentistry University of Debrecen Debrecen Hungary

Division of Dental Biochemistry Department of Basic Medical Sciences Faculty of Dentistry University of Debrecen Debrecen Hungary

Endocrinological Research Center Institute of Pediatric Endocrinology Moscow Russian Federation

Faculty of Medicine Tel Aviv University Tel Aviv Israel

Institute of Dentistry University of Eastern Finland Kuopio Finland

Institute of Microbiology of the Czech Academy of Sciences Prague Czech Republic

K G Jebsen Coeliac Disease Research Centre University of Oslo Oslo Norway

Nantes Université INSERM Center for Research in Transplantation and Translational Immunology UMR 1064 Nantes France

Oral Health Centre of Expertise in Western Norway Vestland Bergen Norway

The Institute of Gastroenterology Nutrition and Liver Diseases Schneider Children's Medical Center of Israel Petach Tikvah Israel

References provided by Crossref.org

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$a Gruper, Yael $u Department of Immunology and Regenerative Biology, Weizmann Institute of Science, Rehovot, Israel $1 https://orcid.org/0000000179122243
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$a Autoimmune amelogenesis imperfecta in patients with APS-1 and coeliac disease / $c Y. Gruper, ASB. Wolff, L. Glanz, F. Spoutil, MC. Marthinussen, A. Osickova, Y. Herzig, Y. Goldfarb, G. Aranaz-Novaliches, J. Dobeš, N. Kadouri, O. Ben-Nun, A. Binyamin, B. Lavi, T. Givony, R. Khalaila, T. Gome, T. Wald, B. Mrazkova, C. Sochen, M. Besnard, S. Ben-Dor, E. Feldmesser, EM. Orlova, C. Hegedűs, I. Lampé, T. Papp, S. Felszeghy, R. Sedlacek, E. Davidovich, N. Tal, DS. Shouval, R. Shamir, C. Guillonneau, Z. Szondy, KEA. Lundin, R. Osicka, J. Prochazka, ES. Husebye, J. Abramson
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$a 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.
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$a Wolff, Anette S B $u Department of Clinical Science and K.G. Jebsen Center for Autoimmune Disorders, University of Bergen, Bergen, Norway. Anette.boe@uib.no $u Department of Medicine, Haukeland University Hospital, Bergen, Norway. Anette.boe@uib.no $1 https://orcid.org/0000000284852248
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