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

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F68378050%3A_____%2F23%3A00579872" target="_blank" >RIV/68378050:_____/23:00579872 - isvavai.cz</a>

Alternative codes found

RIV/61388971:_____/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>

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

—

Czech description

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Type

J_imp - Article in a specialist periodical, which is included in the Web of Science database

CEP classification

—

OECD FORD branch

10608 - Biochemistry and molecular biology

Project

Result was created during the realization of more than one project. More information in the Projects tab.

Continuities

I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Publication year

2023

Confidentiality

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Name of the periodical

Nature

ISSN

0028-0836

e-ISSN

1476-4687

Volume of the periodical

624

Issue of the periodical within the volume

7992

Country of publishing house

GB - UNITED KINGDOM

Number of pages

39

Pages from-to

653-662

UT code for WoS article

001112504800001

EID of the result in the Scopus database

2-s2.0-85177589789