Autoimmune amelogenesis imperfecta in patients with APS-1 and coeliac disease
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216224%3A90127%2F23%3A00139178" target="_blank" >RIV/00216224:90127/23:00139178 - isvavai.cz</a>
Alternative codes found
RIV/61388971:_____/23:00579872 RIV/68378050:_____/23:00579872 RIV/00216208:11310/23:10476998
Result on the web
<a href="https://www.nature.com/articles/s41586-023-06776-0" target="_blank" >https://www.nature.com/articles/s41586-023-06776-0</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1038/s41586-023-06776-0" target="_blank" >10.1038/s41586-023-06776-0</a>
Alternative languages
Result language
angličtina
Original language name
Autoimmune amelogenesis imperfecta in patients with APS-1 and coeliac disease
Original language description
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.
Czech name
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Czech description
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Classification
Type
J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database
CEP classification
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OECD FORD branch
30103 - Neurosciences (including psychophysiology)
Result continuities
Project
—
Continuities
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Others
Publication year
2023
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
Nature
ISSN
0028-0836
e-ISSN
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Volume of the periodical
624
Issue of the periodical within the volume
7992
Country of publishing house
DE - GERMANY
Number of pages
39
Pages from-to
653-691
UT code for WoS article
001128871300020
EID of the result in the Scopus database
2-s2.0-85177589789