Search: L773:2049 3614
> Eriksson Daniel >
Autoimmune polyendo...
Autoimmune polyendocrine syndrome type 1 in an Indian cohort : a longitudinal study
-
- Zaidi, Ghazala (author)
- Sanjay Gandhi Postgrad Inst Med Sci, Dept Endocrinol, Lucknow, Uttar Pradesh, India.
-
- Bhatia, Vijayalakshmi (author)
- Sanjay Gandhi Postgrad Inst Med Sci, Dept Endocrinol, Lucknow, Uttar Pradesh, India.
-
- Sahoo, Saroj K. (author)
- Sanjay Gandhi Postgrad Inst Med Sci, Dept Endocrinol, Lucknow, Uttar Pradesh, India.
-
show more...
-
- Sarangi, Aditya Narayan (author)
- Sanjay Gandhi Postgrad Inst Med Sci, Dept Gastroenterol, Lucknow, Uttar Pradesh, India.
-
- Bharti, Niharika (author)
- Sanjay Gandhi Postgrad Inst Med Sci, Dept Endocrinol, Lucknow, Uttar Pradesh, India.
-
- Zhang, Li (author)
- Barbara Davis Ctr Childhood Diabet, Dept Immunol, Denver, CO USA.
-
- Yu, Liping (author)
- Barbara Davis Ctr Childhood Diabet, Dept Immunol, Denver, CO USA.
-
- Eriksson, Daniel (author)
- Karolinska Institutet,Karolinska Inst, Karolinska Univ Hosp, Dept Med Solna, Stockholm, Sweden.
-
- Bensing, Sophie (author)
- Karolinska Institutet,Karolinska Inst, Dept Mol Med & Surg, Stockholm, Sweden.;Karolinska Univ Hosp, Dept Endocrinol Metab & Diabet, Stockholm, Sweden.
-
- Kämpe, Olle, 1956- (author)
- Karolinska Institutet,Uppsala universitet,Science for Life Laboratory, SciLifeLab,Autoimmunitet,Molekylär medicin,Karolinska Inst, Karolinska Univ Hosp, Dept Med Solna, Stockholm, Sweden
-
- Bharani, Nisha (author)
- Amrita Inst Med Sci, Dept Endocrinol, Kochi, Kerala, India.
-
- Yachha, Surendra Kumar (author)
- Sanjay Gandhi Postgrad Inst Med Sci, Dept Paediat Gastroenterol, Lucknow, Uttar Pradesh, India.
-
- Bhansali, Anil (author)
- Postgrad Inst Med Educ & Res, Dept Endocrinol, Chandigarh, India.
-
- Sachan, Alok (author)
- Sri Venkateshwara Inst Med Sci, Dept Endocrinol, Tirupati, India.
-
- Jain, Vandana (author)
- All India Inst Med Sci, Dept Paediat, New Delhi, India.
-
- Shah, Nalini (author)
- King Edward Mem Hosp, Seth GS Med Coll, Dept Endocrinol, Bombay, Maharashtra, India.
-
- Aggarwal, Rakesh (author)
- Sanjay Gandhi Postgrad Inst Med Sci, Dept Gastroenterol, Lucknow, Uttar Pradesh, India.
-
- Aggarwal, Amita (author)
- Sanjay Gandhi Postgrad Inst Med Sci, Dept Clin Immunol, Lucknow, Uttar Pradesh, India.
-
- Srinivasan, Muthuswamy (author)
- Sanjay Gandhi Postgrad Inst Med Sci, Dept Med Sci, Lucknow, Uttar Pradesh, India.
-
- Agarwal, Sarita (author)
- Sanjay Gandhi Postgrad Inst Med Sci, Dept Med Sci, Lucknow, Uttar Pradesh, India.
-
- Bhatia, Eesh (author)
- Sanjay Gandhi Postgrad Inst Med Sci, Dept Endocrinol, Lucknow, Uttar Pradesh, India.
-
show less...
-
Sanjay Gandhi Postgrad Inst Med Sci, Dept Endocrinol, Lucknow, Uttar Pradesh, India Sanjay Gandhi Postgrad Inst Med Sci, Dept Gastroenterol, Lucknow, Uttar Pradesh, India. (creator_code:org_t)
- 2017
- 2017
- English.
-
In: Endocrine Connections. - 2049-3614. ; 6:5, s. 289-296
- Related links:
-
https://doi.org/10.1...
-
show more...
-
https://urn.kb.se/re...
-
https://doi.org/10.1...
-
http://kipublication...
-
show less...
Abstract
Subject headings
Close
- Objective: Autoimmune polyendocrine syndrome type 1 (APS1) is a rare autosomal recessive disorder characterized by progressive organ-specific autoimmunity. There is scant information on APS1 in ethnic groups other than European Caucasians. We studied clinical aspects and autoimmune regulator (AIRE) gene mutations in a cohort of Indian APS1 patients. Design: Twenty-three patients (19 families) from six referral centres in India, diagnosed between 1996 and 2016, were followed for [median (range)] 4 (0.2-19) years. Methods: Clinical features, mortality, organ-specific autoantibodies and AIRE gene mutations were studied. Results: Patients varied widely in their age of presentation [3.5 (0.1-17) years] and number of clinical manifestations [5 (2-11)]. Despite genetic heterogeneity, the frequencies of the major APS1 components (mucocutaneous candidiasis: 96%; hypoparathyroidism: 91%; primary adrenal insufficiency: 55%) were similar to reports in European series. In contrast, primary hypothyroidism (23%) occurred more frequently and at an early age, while kerato-conjunctivitis, urticarial rash and autoimmune hepatitis were uncommon (9% each). Six (26%) patients died at a young age [5.8 (3-23) years] due to septicaemia, hepatic failure and adrenal/hypocalcaemic crisis from non-compliance/unexplained cause. Interferon-a and/or interleukin-22 antibodies were elevated in all 19 patients tested, including an asymptomatic infant. Eleven AIRE mutations were detected, the most common being p.C322fsX372 (haplotype frequency 37%). Four mutations were novel, while six others were previously described in European Caucasians. Conclusions: Indian APS1 patients exhibited considerable genetic heterogeneity and had highly variable clinical features. While the frequency of major manifestations was similar to that of European Caucasians, other features showed significant differences. A high mortality at a young age was observed.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Endokrinologi och diabetes (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Endocrinology and Diabetes (hsv//eng)
Keyword
- autoimmune polyendocrine syndrome 1
- APECED syndrome
- autoimmune regulator gene
- India
Publication and Content Type
- ref (subject category)
- art (subject category)
Find in a library
To the university's database
- By the author/editor
-
Zaidi, Ghazala
-
Bhatia, Vijayala ...
-
Sahoo, Saroj K.
-
Sarangi, Aditya ...
-
Bharti, Niharika
-
Zhang, Li
-
show more...
-
Yu, Liping
-
Eriksson, Daniel
-
Bensing, Sophie
-
Kämpe, Olle, 195 ...
-
Bharani, Nisha
-
Yachha, Surendra ...
-
Bhansali, Anil
-
Sachan, Alok
-
Jain, Vandana
-
Shah, Nalini
-
Aggarwal, Rakesh
-
Aggarwal, Amita
-
Srinivasan, Muth ...
-
Agarwal, Sarita
-
Bhatia, Eesh
-
show less...
- About the subject
-
- MEDICAL AND HEALTH SCIENCES
-
MEDICAL AND HEAL ...
-
and Clinical Medicin ...
-
and Endocrinology an ...
- Articles in the publication
-
Endocrine Connec ...
- By the university
-
Uppsala University
-
Karolinska Institutet