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Article Dans Une Revue Nature Année : 2023

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

Tamás Papp
Zsuzsa Szondy

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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Dates et versions

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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