Autoimmune amelogenesis imperfecta in patients with APS-1 and coeliac disease - Inserm - Institut national de la santé et de la recherche médicale
Article Dans Une Revue Nature Année : 2023

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

Yael Gruper (1) , Anette Wolff (2, 3) , Liad Glanz (1) , Frantisek Spoutil (4) , Mihaela Cuida Marthinussen (2) , Adriana Osickova (5) , Yonatan Herzig (1) , Yael Goldfarb (1) , Goretti Aranaz-Novaliches (4) , Jan Dobeš (1, 6) , Noam Kadouri (1) , Osher Ben-Nun (1) , Amit Binyamin (1) , Bar Lavi (1) , Tal Givony (1) , Razi Khalaila (1) , Tom Gome (1) , Tomáš Wald (5) , Blanka Mrazkova (4) , Carmel Sochen (1) , Marine Besnard (7, 8) , Shifra Ben-Dor (1) , Ester Feldmesser (1) , Elisaveta Orlova (9) , Csaba Hegedűs (10) , István Lampé (10) , Tamás Papp (10) , Szabolcs Felszeghy (10, 11) , Radislav Sedlacek (4) , Esti Davidovich (12) , Noa Tal (13, 14) , Dror Shouval (13, 14) , Raanan Shamir (13, 14) , Carole Guillonneau (7, 8) , Zsuzsa Szondy (10) , Knut Lundin (15, 16) , Radim Osicka (5) , Jan Prochazka (4) , Eystein Husebye (2, 3) , Jakub Abramson (1)
1 Weizmann Institute of Science [Rehovot, Israël]
2 UiB - University of Bergen
3 Haukeland University Hospital
4 IMG / CAS - Institute of Molecular Genetics of the Czech Academy of Sciences
5 MBU / CAS - Institute of Microbiology of the Czech Academy of Sciences [Prague, Czech Republic]
6 UK - Univerzita Karlova [Praha, Česká republika] = Charles University [Prague, Czech Republic]
7 U1064 Inserm - CR2TI - Centre de Recherche en Transplantation et Immunologie - Center for Research in Transplantation and Translational Immunology
8 Team 2 - U1064 Inserm - CR2TI - Team 2 : Cell and gene engineering in tolerance, fertility and regenerative medicine
9 IPE - Institute of Pediatric Endocrinology [Moscow, Russian Federation]
10 University of Debrecen
11 University of Eastern Finland
12 The Hebrew University Hadassah Medical School
13 Schneider Children’s Medical Center of Israel [Petah Tikva]
14 TAU - Tel Aviv University
15 UiO - University of Oslo
16 Oslo University Hospital [Oslo]
Yael Gruper
Weizmann Institute of Science [Rehovot, Israël]
Anette Wolff
University of Bergen
Haukeland University Hospital
Liad Glanz
  • Fonction : Auteur
Weizmann Institute of Science [Rehovot, Israël]
Frantisek Spoutil
  • Fonction : Auteur
Institute of Molecular Genetics of the Czech Academy of Sciences
Mihaela Cuida Marthinussen
  • Fonction : Auteur
University of Bergen
Adriana Osickova
  • Fonction : Auteur
Institute of Microbiology of the Czech Academy of Sciences [Prague, Czech Republic]
Yonatan Herzig
  • Fonction : Auteur
Weizmann Institute of Science [Rehovot, Israël]
Yael Goldfarb
  • Fonction : Auteur
Weizmann Institute of Science [Rehovot, Israël]
Goretti Aranaz-Novaliches
Institute of Molecular Genetics of the Czech Academy of Sciences
Jan Dobeš
Weizmann Institute of Science [Rehovot, Israël]
Univerzita Karlova [Praha, Česká republika] = Charles University [Prague, Czech Republic]
Noam Kadouri
Weizmann Institute of Science [Rehovot, Israël]
Osher Ben-Nun
  • Fonction : Auteur
Weizmann Institute of Science [Rehovot, Israël]
Amit Binyamin
Weizmann Institute of Science [Rehovot, Israël]
Bar Lavi
  • Fonction : Auteur
Weizmann Institute of Science [Rehovot, Israël]
Tal Givony
  • Fonction : Auteur
Weizmann Institute of Science [Rehovot, Israël]
Razi Khalaila
  • Fonction : Auteur
Weizmann Institute of Science [Rehovot, Israël]
Tom Gome
Weizmann Institute of Science [Rehovot, Israël]
Tomáš Wald
  • Fonction : Auteur
Institute of Microbiology of the Czech Academy of Sciences [Prague, Czech Republic]
Blanka Mrazkova
Institute of Molecular Genetics of the Czech Academy of Sciences
Carmel Sochen
  • Fonction : Auteur
Weizmann Institute of Science [Rehovot, Israël]
Marine Besnard
Centre de Recherche en Transplantation et Immunologie - Center for Research in Transplantation and Translational Immunology
Team 2 : Cell and gene engineering in tolerance, fertility and regenerative medicine
Shifra Ben-Dor
Weizmann Institute of Science [Rehovot, Israël]
Ester Feldmesser
Weizmann Institute of Science [Rehovot, Israël]
Elisaveta Orlova
  • Fonction : Auteur
Institute of Pediatric Endocrinology [Moscow, Russian Federation]
Csaba Hegedűs
University of Debrecen
István Lampé
University of Debrecen
Tamás Papp
University of Debrecen
Szabolcs Felszeghy
  • Fonction : Auteur
University of Debrecen
University of Eastern Finland
Radislav Sedlacek
Institute of Molecular Genetics of the Czech Academy of Sciences
Esti Davidovich
  • Fonction : Auteur
The Hebrew University Hadassah Medical School
Noa Tal
  • Fonction : Auteur
Schneider Children’s Medical Center of Israel [Petah Tikva]
Tel Aviv University
Dror Shouval
  • Fonction : Auteur
Schneider Children’s Medical Center of Israel [Petah Tikva]
Tel Aviv University
Raanan Shamir
  • Fonction : Auteur
Schneider Children’s Medical Center of Israel [Petah Tikva]
Tel Aviv University
Carole Guillonneau
Centre de Recherche en Transplantation et Immunologie - Center for Research in Transplantation and Translational Immunology
Team 2 : Cell and gene engineering in tolerance, fertility and regenerative medicine
Zsuzsa Szondy
University of Debrecen
Knut Lundin
  • Fonction : Auteur
University of Oslo
Oslo University Hospital [Oslo]
Radim Osicka
  • Fonction : Auteur
Institute of Microbiology of the Czech Academy of Sciences [Prague, Czech Republic]
Jan Prochazka
Institute of Molecular Genetics of the Czech Academy of Sciences
Eystein Husebye
  • Fonction : Auteur
University of Bergen
Haukeland University Hospital
Jakub Abramson
Weizmann Institute of Science [Rehovot, Israël]

Résumé

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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Sciences du Vivant [q-bio]
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https://inserm.hal.science/inserm-04390219

Soumis le : vendredi 12 janvier 2024-10:40:34

Dernière modification le : mardi 15 octobre 2024-16:42:19

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inserm-04390219 , version 1 (12-01-2024)

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Yael Gruper, Anette Wolff, Liad Glanz, Frantisek Spoutil, Mihaela Cuida Marthinussen, et al.. Autoimmune amelogenesis imperfecta in patients with APS-1 and coeliac disease. Nature, 2023, 624 (7992), pp.653-662. ⟨10.1038/s41586-023-06776-0⟩. ⟨inserm-04390219⟩

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