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Tytuł pozycji:

Screening patients with autoimmune endocrine disorders for cytokine autoantibodies reveals monogenic immune deficiencies.

Tytuł:
Screening patients with autoimmune endocrine disorders for cytokine autoantibodies reveals monogenic immune deficiencies.
Autorzy:
Sjøgren T; Department of Clinical Science, University of Bergen, Norway; Department of Medicine, Haukeland University Hospital, Bergen, Norway; KG Jebsen Center for Autoimmune Diseases, University of Bergen, Norway.
Bratland E; Department of Clinical Science, University of Bergen, Norway; KG Jebsen Center for Autoimmune Diseases, University of Bergen, Norway; Department of Medical Genetics, Haukeland University Hospital, Bergen, Norway.
Røyrvik EC; Department of Clinical Science, University of Bergen, Norway; KG Jebsen Center for Autoimmune Diseases, University of Bergen, Norway.
Grytaas MA; Department of Medicine, Haukeland University Hospital, Bergen, Norway; KG Jebsen Center for Autoimmune Diseases, University of Bergen, Norway.
Benneche A; Department of Medical Genetics, Haukeland University Hospital, Bergen, Norway.
Knappskog PM; Department of Clinical Science, University of Bergen, Norway; Department of Medical Genetics, Haukeland University Hospital, Bergen, Norway.
Kämpe O; KG Jebsen Center for Autoimmune Diseases, University of Bergen, Norway; Department of Medicine, Karolinska Institutet, Stockholm, Sweden.
Oftedal BE; Department of Clinical Science, University of Bergen, Norway; Department of Medicine, Haukeland University Hospital, Bergen, Norway; KG Jebsen Center for Autoimmune Diseases, University of Bergen, Norway.
Husebye ES; Department of Clinical Science, University of Bergen, Norway; Department of Medicine, Haukeland University Hospital, Bergen, Norway; KG Jebsen Center for Autoimmune Diseases, University of Bergen, Norway. Electronic address: .
Wolff ASB; Department of Clinical Science, University of Bergen, Norway; Department of Medicine, Haukeland University Hospital, Bergen, Norway; KG Jebsen Center for Autoimmune Diseases, University of Bergen, Norway. Electronic address: .
Źródło:
Journal of autoimmunity [J Autoimmun] 2022 Dec; Vol. 133, pp. 102917. Date of Electronic Publication: 2022 Sep 30.
Typ publikacji:
Journal Article
Język:
English
Imprint Name(s):
Publication: London : Academic Press
Original Publication: London ; San Diego : Academic Press, c1988-
MeSH Terms:
Autoantibodies*
Endocrine System Diseases*
Humans ; Cytokines
Contributed Indexing:
Keywords: Autoantibodies; Autoimmune polyendocrine syndrome type 1 (APS-1); Interferon-ω(IFN-ω); Interleukin-22 (IL22); Next generation sequencing; Type I interferon (IFN–I)
Substance Nomenclature:
0 (Autoantibodies)
0 (Cytokines)
Entry Date(s):
Date Created: 20221003 Date Completed: 20221215 Latest Revision: 20221220
Update Code:
20240105
DOI:
10.1016/j.jaut.2022.102917
PMID:
36191466
Czasopismo naukowe
Background: Autoantibodies against type I interferons (IFN) alpha (α) and omega (ω), and interleukins (IL) 17 and 22 are a hallmark of autoimmune polyendocrine syndrome type 1 (APS-1), caused by mutations in the autoimmune regulator (AIRE) gene. Such antibodies are also seen in a number of monogenic immunodeficiencies.
Objectives: To determine whether screening for cytokine autoantibodies (anti-IFN-ω and anti-IL22) can be used to identify patients with monogenic immune disorders.
Methods: A novel ELISA assay was employed to measure IL22 autoantibodies in 675 patients with autoimmune primary adrenal insufficiency (PAI) and a radio immune assay (RIA) was used to measure autoantibodies against IFN-ω in 1778 patients with a variety of endocrine diseases, mostly of autoimmune aetiology. Positive cases were sequenced for all coding exons of the AIRE gene. If no AIRE mutations were found, we applied next generation sequencing (NGS) to search for mutations in immune related genes.
Results: We identified 29 patients with autoantibodies against IFN-ω and/or IL22. Of these, four new APS-1 cases with disease-causing variants in AIRE were found. In addition, we identified two patients with pathogenic heterozygous variants in CTLA4 and NFKB2, respectively. Nine rare variants in other immune genes were identified in six patients, although further studies are needed to determine their disease-causing potential.
Conclusion: Screening of cytokine autoantibodies can efficiently identify patients with previously unknown monogenic and possible oligogenic causes of autoimmune and immune deficiency diseases. This information is crucial for providing personalised treatment and follow-up of patients and their relatives.
Competing Interests: Declaration of competing interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper.
(Copyright © 2022. Published by Elsevier Ltd.)

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