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Identification of a...
Identification of autoimmune polyendocrine syndrome type 1 in patients with isolated hypoparathyroidism
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- Sahoo, Saroj K. (author)
- Sanjay Gandhi Postgrad Inst Med Sci, Dept Endocrinol, Lucknow 226014, Uttar Pradesh, India.
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- Zaidi, Ghazala (author)
- Sanjay Gandhi Postgrad Inst Med Sci, Dept Endocrinol, Lucknow 226014, Uttar Pradesh, India.
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- Srivastava, Rajni (author)
- Sanjay Gandhi Postgrad Inst Med Sci, Dept Clin Immunol, Lucknow, Uttar Pradesh, India.
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- Sarangi, Aditya N. (author)
- Sanjay Gandhi Postgrad Inst Med Sci, Dept Gastroenterol, Lucknow, Uttar Pradesh, India.
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- Bharti, Niharika (author)
- Sanjay Gandhi Postgrad Inst Med Sci, Dept Endocrinol, Lucknow 226014, Uttar Pradesh, India.
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- Eriksson, Daniel (author)
- Karolinska Institutet
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- Bensing, Sophie (author)
- Karolinska Institutet
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- Kämpe, Olle (author)
- Karolinska Institutet,Uppsala universitet,Autoimmunitet,Science for Life Laboratory, SciLifeLab
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- Aggarwal, Amita (author)
- Sanjay Gandhi Postgrad Inst Med Sci, Dept Clin Immunol, Lucknow, Uttar Pradesh, India.
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- Aggarwal, Rakesh (author)
- Sanjay Gandhi Postgrad Inst Med Sci, Dept Gastroenterol, Lucknow, Uttar Pradesh, India.
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- Bhatia, Eesh (author)
- Sanjay Gandhi Postgrad Inst Med Sci, Dept Endocrinol, Lucknow 226014, Uttar Pradesh, India.
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Sanjay Gandhi Postgrad Inst Med Sci, Dept Endocrinol, Lucknow 226014, Uttar Pradesh, India Sanjay Gandhi Postgrad Inst Med Sci, Dept Clin Immunol, Lucknow, Uttar Pradesh, India. (creator_code:org_t)
- 2016-06-28
- 2016
- English.
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In: Clinical Endocrinology. - : Wiley. - 0300-0664 .- 1365-2265. ; 85:4, s. 544-550
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https://doi.org/10.1...
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Abstract
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- Objective The prevalence of autoimmune polyendocrine syndrome type 1 (APS1) among isolated hypoparathyroidism (HP) or primary adrenal insufficiency (PAI) is not well established. We studied the frequency of APS1 in patients with HP or PAI by measuring interferon-alpha (IFN-alpha) antibody levels, a highly sensitive and specific marker for APS1. Design, patients and measurements In a single-centre cross-sectional study, 37 Indian patients with isolated HP and 40 patients with PAI were tested for IFN-alpha antibody using an indirect ELISA. In patients with elevated IFN-alpha antibody, the autoimmune regulator (AIRE) gene was bidirectionally sequenced. Results Three (8.1%) patients with isolated HP had elevated IFN-alpha antibody levels (range: 367-17382 units; positive titre >56 units). Homozygous or compound heterozygous AIRE mutations were detected in all three patients, including a novel mutation (p.T68P). All three APS1 patients had atypical features. The first patient, diagnosed at 7 years of age, died suddenly 5 months later. The second patient had late-onset HP (at the age of 34 years) and a solitary episode of transient mucocutaneous candidiasis 5 years later. The final patient developed HP at the age of 14 years and premature ovarian insufficiency 14 years later. Interleukin-22 antibodies, as well as most other organ-specific antibodies, were absent in the 3 APS1 patients. All patients with PAI were negative for IFN-alpha antibody. Conclusion Eight percentage of patients with isolated HP had elevated IFN-alpha antibody levels and AIRE mutation-positive APS1. All APS1 patients had atypical clinical features. Testing for IFN-alpha antibody should be considered in patients with idiopathic HP.
Subject headings
- 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)
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- art (subject category)
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- By the author/editor
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Sahoo, Saroj K.
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Zaidi, Ghazala
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Srivastava, Rajn ...
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Sarangi, Aditya ...
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Bharti, Niharika
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Eriksson, Daniel
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show more...
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Bensing, Sophie
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Kämpe, Olle
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Aggarwal, Amita
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Aggarwal, Rakesh
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Bhatia, Eesh
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show less...
- 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 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 ...
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Clinical Endocri ...
- By the university
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Uppsala University
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Karolinska Institutet