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Cytokine autoantibody screening in the Swedish Addison Register identifies patients with undiagnosed APS1.

Journal article
Authors Daniel Eriksson
Frida Dalin
Gabriel Nordling Eriksson
Nils Landegren
Matteo Bianchi
Åsa Hallgren
Per Dahlqvist
Jeanette Wahlberg
Olov Ekwall
Ola Winqvist
Sergiu-Bogdan Catrina
Johan Rönnelid
Anna-Lena Hulting
Kerstin Lindblad-Toh
Mohammad Alimohammadi
Eystein S Husebye
Per Morten Knappskog
Gerli Rosengren Pielberg
Sophie Bensing
Olle Kämpe
Published in The Journal of clinical endocrinology and metabolism
Volume 103
Issue 1
Pages 179–186
ISSN 1945-7197
Publication year 2018
Published at Institute of Medicine, Department of Rheumatology and Inflammation Research
Institute of Clinical Sciences, Department of Pediatrics
Pages 179–186
Language en
Subject categories Immunology in the medical area, Endocrinology


Autoimmune polyendocrine syndrome type 1 (APS1) is a monogenic disorder that features autoimmune Addison's disease as a major component. Although APS1 accounts for only a small fraction of all Addison's disease cases, it is vital with an early identification of these individuals in order to prevent potentially lethal complications of APS1.To determine whether available serological and genetic markers are valuable screening tools for the identification of APS1 among patients diagnosed with Addison's disease.We systematically screened 677 Addison patients enrolled in the Swedish Addison Register for autoantibodies against interleukin-22 and interferon-α4. Autoantibody positive patients were investigated for clinical manifestations of APS1, additional APS1-specific autoantibodies, and DNA sequence and copy number variation of AIRE.In total, 17 (2.5%) patients displayed autoantibodies against interleukin-22 and/or interferon-α4, of which 9 were known APS1-cases. Four patients, previously undiagnosed with APS1, fulfilled clinical, genetic and serological criteria. Hence, we identified four undiagnosed APS1 patients with this screening procedure.We propose that patients with Addison's disease should be routinely screened for cytokine autoantibodies. Clinical or serological support for APS1 should warrant DNA sequencing and copy number analysis of AIRE to enable early diagnosis and prevention of lethal complications.

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