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Cytokine Autoantibo...
Cytokine Autoantibody Screening in the Swedish Addison Registry Identifies Patients With Undiagnosed APS1
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- Eriksson, Daniel (author)
- Karolinska Institute,Karolinska Institutet, Stockholm, Sweden; Karolinska University Hospital, Stockholm, Sweden,Karolinska Inst, Dept Med Solna, Ctr Mol Med, Stockholm, Sweden; Karolinska Univ Hosp, Dept Endocrinol Metab & Diabet, Stockholm, Sweden
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- Dalin, Frida, 1984- (author)
- Uppsala universitet,Uppsala University,Karolinska Institutet, Stockholm, Sweden; Uppsala University, Uppsala, Sweden,Science for Life Laboratory, SciLifeLab,Karolinska Inst, Dept Med Solna, Ctr Mol Med, Stockholm, Sweden
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- Eriksson, Gabriel Nordling (author)
- Karolinska University Hospital,Karolinska Institutet, Stockholm, Sweden,Karolinska Inst, Dept Mol Med & Surg, Stockholm, Sweden
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- Landegren, Nils, 1986- (author)
- Uppsala universitet,Uppsala University,Karolinska Institutet, Stockholm, Sweden; Uppsala University, Uppsala, Sweden,Science for Life Laboratory, SciLifeLab,Karolinska Inst, Dept Med Solna, Ctr Mol Med, Stockholm, Sweden
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- Bianchi, Matteo (author)
- Uppsala universitet,Uppsala University,Uppsala University, Uppsala, Sweden,Institutionen för medicinsk biokemi och mikrobiologi,Science for Life Laboratory, SciLifeLab
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- Hallgren, Åsa (author)
- Uppsala universitet,Uppsala University,Karolinska Institutet, Stockholm, Sweden; Uppsala University, Uppsala, Sweden,Science for Life Laboratory, SciLifeLab,Karolinska Inst, Dept Med Solna, Ctr Mol Med, Stockholm, Sweden
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- Dahlqvist, Per (author)
- Umeå universitet,Umeå University,Umeå University, Umeå, Sweden,Avdelningen för medicin,Umeå Univ, Dept Publ Hlth & Clin Med, Umeå, Sweden
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- Wahlberg, Jeanette, 1969- (author)
- Linköpings universitet,Linköping University,Linköping University, Linköping, Sweden,Linköping Univ, Dept Endocrinol, Linköping, Sweden; Linköping Univ, Dept Med & Hlth Sci, Linköping, Sweden; Linköping Univ, Dept Clin & Expt Med, Linköping, Sweden,Avdelningen för kardiovaskulär medicin,Medicinska fakulteten,Institutionen för klinisk och experimentell medicin,Region Östergötland, Endokrinmedicinska kliniken
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- Ekwall, Olov, 1968 (author)
- Gothenburg University,Göteborgs universitet,University of Gothenburg,Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden,Univ Gothenburg, Dept Pediat, Inst Clin Sci, Sahlgrenska Acad, Gothenburg, Sweden; Univ Gothenburg, Dept Rheumatol & Inflammat Res, Inst Med, Sahlgrenska Acad, Gothenburg, Sweden,Institutionen för kliniska vetenskaper, Avdelningen för pediatrik,Institutionen för medicin, avdelningen för reumatologi och inflammationsforskning,Institute of Clinical Sciences, Department of Pediatrics,Institute of Medicine, Department of Rheumatology and Inflammation Research
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- Winqvist, Ola (author)
- Karolinska Institutet,Karolinska Institutet, Stockholm, Sweden
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- Catrina, Sergiu-Bogdan (author)
- Karolinska Institutet,Karolinska Institutet, Stockholm, Sweden
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- Rönnelid, Johan (author)
- Uppsala universitet,Uppsala University,Uppsala University, Uppsala, Sweden,Klinisk immunologi
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- Hulting, Anna-Lena (author)
- Karolinska Institutet,Karolinska Institutet, Stockholm, Sweden
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- Lindblad-Toh, Kerstin (author)
- Uppsala universitet,Uppsala University,Uppsala University, Uppsala, Sweden; Broad Institute of Massachusetts Institute of Technology and Harvard University, Cambridge, Massachusetts, England,Science for Life Laboratory, SciLifeLab
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- Alimohammad, Mohammad (author)
- Uppsala universitet,Uppsala University,Uppsala University, Uppsala, Sweden,Dermatologi och venereologi
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- Husebye, Eystein S (author)
- Karolinska Institutet, Stockholm, Sweden; University of Bergen, Bergen, Norway; K.G. Jebsen Center for Autoimmune Disorders, Bergen, Norway,Karolinska Inst, Dept Med Solna, Ctr Mol Med, Stockholm, Sweden; Univ Bergen, Dept Clin Sci, Bergen, Norway; Univ Bergen, Dept Med, Bergen, Norway; KG Jebsen Ctr Autoimmune Disorders, Bergen, Norway
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- Knappskog, Per Morten (author)
- University of Bergen, Bergen, Norway; Haukeland University Hospital, Bergen, Norway,Univ Bergen, Dept Clin Sci, Bergen, Norway; Haukeland Hosp, Ctr Med Genet & Mol Med, Bergen, Norway
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- Pielberg, Gerli Rosengren (author)
- Uppsala universitet,Uppsala University,Uppsala University, Uppsala, Sweden,Science for Life Laboratory, SciLifeLab
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- Bensing, Sophie (author)
- Karolinska Institutet,Karolinska University Hospital, Stockholm, Karolinska Institutet, Stockholm, Sweden
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- Kämpe, Olle (author)
- Karolinska Institutet,Uppsala universitet,Uppsala University,Karolinska Institute,Center for Molecular Medicine, Department of Medicine (Solna), Karolinska Institutet, Stockholm, Sweden; Karolinska University Hospital, Stockholm, Sweden; Uppsala University, Uppsala, Sweden; K.G. Jebsen Center for Autoimmune Disorders, Bergen, Norway,University of Bergen,Science for Life Laboratory, SciLifeLab,Karolinska Inst, Dept Med Solna, Ctr Mol Med, Stockholm, Sweden; Karolinska Univ Hosp, Dept Endocrinol Metab & Diabet, Stockholm, Sweden; KG Jebsen Ctr Autoimmune Disorders, Bergen, Norway
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- Elfving, Maria (creator_code:cre_t)
- Lund University,Lunds universitet,Pediatrik, Lund,Sektion V,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Childhood Cancer Research Unit,Forskargrupper vid Lunds universitet,Paediatrics (Lund),Section V,Department of Clinical Sciences, Lund,Faculty of Medicine,Lund University Research Groups
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(creator_code:org_t)
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- 2017-10-20
- 2018
- English.
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In: The Journal of clinical endocrinology and metabolism. - : The Endocrine Society. - 1945-7197 .- 0021-972X. ; 103:1, s. 179-186
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Abstract
Subject headings
Close
- Context: Autoimmune polyendocrine syndrome type 1 (APS1) is a monogenic disorder that features autoimmune Addison disease as a major component. Although APS1 accounts for only a small fraction of all patients with Addison disease, early identification of these individuals is vital to prevent the potentially lethal complications of APS1.Objective: To determine whether available serological and genetic markers are valuable screening tools for the identification of APS1 among patients diagnosed with Addison disease.Design: We systematically screened 677 patients with Addison disease enrolled in the Swedish Addison Registry 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 variations of AIRE.Results: In total, 17 patients (2.5%) displayed autoantibodies against interleukin-22 and/or interferon-α4, of which nine were known APS1 cases. Four patients previously undiagnosed with APS1 fulfilled clinical, genetic, and serological criteria. Hence, we identified four patients with undiagnosed APS1 with this screening procedure.Conclusion: We propose that patients with Addison 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.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Reumatologi och inflammation (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Rheumatology and Autoimmunity (hsv//eng)
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Endokrinologi och diabetes (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Endocrinology and Diabetes (hsv//eng)
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Immunologi inom det medicinska området (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Immunology in the medical area (hsv//eng)
Keyword
- Addison Disease/blood
- Autoantibodies/blood
- Biomarkers/blood
- Case-Control Studies
- Cytokines/immunology
- Follow-Up Studies
- Humans
- Mass Screening
- Polyendocrinopathies, Autoimmune/blood
- Prognosis
- Registries
- Sweden
Publication and Content Type
- art (subject category)
- ref (subject category)
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- By the author/editor
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Eriksson, Daniel
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Dalin, Frida, 19 ...
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Eriksson, Gabrie ...
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Landegren, Nils, ...
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Bianchi, Matteo
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Hallgren, Åsa
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show more...
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Dahlqvist, Per
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Wahlberg, Jeanet ...
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Ekwall, Olov, 19 ...
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Winqvist, Ola
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Catrina, Sergiu- ...
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Rönnelid, Johan
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Hulting, Anna-Le ...
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Lindblad-Toh, Ke ...
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Alimohammad, Moh ...
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Husebye, Eystein ...
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Knappskog, Per M ...
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Pielberg, Gerli ...
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Bensing, Sophie
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Kämpe, Olle
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Elfving, Maria
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- About the subject
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Clinical Medicin ...
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and Rheumatology and ...
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Clinical Medicin ...
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and Endocrinology an ...
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Basic Medicine
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and Immunology in th ...
- Articles in the publication
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The Journal of c ...
- By the university
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Lund University
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Örebro University
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Umeå University
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Uppsala University
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Karolinska Institutet
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Linköping University
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University of Gothenburg
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