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Elife. 2019 Jun 27;8. pii: e43578. doi: 10.7554/eLife.43578.

Comment on 'AIRE-deficient patients harbor unique high-affinity disease-ameliorating autoantibodies'.

Author information

1
Department of Medicine (Solna), Karolinska University Hospital, Karolinska Institutet, Stockholm, Sweden.
2
Department of Medical Sciences, Science for Life Laboratory, Uppsala University, Uppsala, Sweden.
3
Laboratory of Clinical Immunology & Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, United States.
4
Department of Medical Sciences, National Bioinformatics Infrastructure, Uppsala, Sweden.
5
Science for Life Laboratory, Uppsala University, Uppsala, Sweden.
6
Department of Endocrinology, Metabolism and Diabetes, Karolinska University Hospital, Stockholm, Sweden.
7
Department of Medical Sciences, Molecular Epidemiology, Science for Life Laboratory, Uppsala University, Uppsala, Sweden.
8
Department of Cardiology, Clinical Sciences, Lund University, Skåne University Hospital, Lund, Sweden.
9
Program in Medical and Population Genetics, Broad Institute of Harvard, Massachusetts Institute of Technology, Cambridge, United States.
10
Wallenberg Center for Molecular Medicine, Lund University Diabetes Center, Lund University, Lund, Sweden.
11
Department of Women's and Children's Health, Science for Life Laboratory, Karolinska Institutet, Stockholm, Sweden.
12
Department of Newborn Medicine, Karolinska University Hospital, Stockholm, Sweden.
13
Department of Genetics, School of Medicine, Stanford University, Stanford, United States.
14
Diabetes Center, University of California, San Francisco, San Francisco, United States.
15
KG Jebsen Center for Autoimmune Diseases, University of Bergen, Bergen, Norway.

Abstract

The AIRE gene plays a key role in the development of central immune tolerance by promoting thymic presentation of tissue-specific molecules. Patients with AIRE-deficiency develop multiple autoimmune manifestations and display autoantibodies against the affected tissues. In 2016 it was reported that: i) the spectrum of autoantibodies in patients with AIRE-deficiency is much broader than previously appreciated; ii) neutralizing autoantibodies to type I interferons (IFNs) could provide protection against type 1 diabetes in these patients (Meyer et al., 2016). We attempted to replicate these new findings using a similar experimental approach in an independent patient cohort, and found no evidence for either conclusion.

KEYWORDS:

APS1/APECED; autoantibody; autoantigen; human; human biology; immune tolerance; immunology; inflammation; medicine; type 1 diabetes

Conflict of interest statement

NL, LR, EF, DE, TF, GS, EF, PB, DS, ML, MA No competing interests declared, MS Serves as founder and consultant for Personalis, is a member of the scientific advisory board of GenapSys, and a consultant for Illumina. OK Is a board member of Olink Bioscience.

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