Autoimmune polyendocrine syndrome type 1 in an Indian cohort: a longitudinal study
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)...
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Bioscientifica
2017-07-01
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Series: | Endocrine Connections |
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Online Access: | http://www.endocrineconnections.com/content/6/5/289.full |
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record_format |
Article |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Ghazala Zaidi Vijayalakshmi Bhatia Saroj K Sahoo Aditya Narayan Sarangi Niharika Bharti Li Zhang Liping Yu Daniel Eriksson Sophie Bensing Olle Kämpe Nisha Bharani Surendra Kumar Yachha Anil Bhansali Alok Sachan Vandana Jain Nalini Shah Rakesh Aggarwal Amita Aggarwal Muthuswamy Srinivasan Sarita Agarwal Eesh Bhatia |
spellingShingle |
Ghazala Zaidi Vijayalakshmi Bhatia Saroj K Sahoo Aditya Narayan Sarangi Niharika Bharti Li Zhang Liping Yu Daniel Eriksson Sophie Bensing Olle Kämpe Nisha Bharani Surendra Kumar Yachha Anil Bhansali Alok Sachan Vandana Jain Nalini Shah Rakesh Aggarwal Amita Aggarwal Muthuswamy Srinivasan Sarita Agarwal Eesh Bhatia Autoimmune polyendocrine syndrome type 1 in an Indian cohort: a longitudinal study Endocrine Connections autoimmune polyendocrine syndrome 1 APECED syndrome autoimmune regulator gene India |
author_facet |
Ghazala Zaidi Vijayalakshmi Bhatia Saroj K Sahoo Aditya Narayan Sarangi Niharika Bharti Li Zhang Liping Yu Daniel Eriksson Sophie Bensing Olle Kämpe Nisha Bharani Surendra Kumar Yachha Anil Bhansali Alok Sachan Vandana Jain Nalini Shah Rakesh Aggarwal Amita Aggarwal Muthuswamy Srinivasan Sarita Agarwal Eesh Bhatia |
author_sort |
Ghazala Zaidi |
title |
Autoimmune polyendocrine syndrome type 1 in an Indian cohort: a longitudinal study |
title_short |
Autoimmune polyendocrine syndrome type 1 in an Indian cohort: a longitudinal study |
title_full |
Autoimmune polyendocrine syndrome type 1 in an Indian cohort: a longitudinal study |
title_fullStr |
Autoimmune polyendocrine syndrome type 1 in an Indian cohort: a longitudinal study |
title_full_unstemmed |
Autoimmune polyendocrine syndrome type 1 in an Indian cohort: a longitudinal study |
title_sort |
autoimmune polyendocrine syndrome type 1 in an indian cohort: a longitudinal study |
publisher |
Bioscientifica |
series |
Endocrine Connections |
issn |
2049-3614 2049-3614 |
publishDate |
2017-07-01 |
description |
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-α 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. |
topic |
autoimmune polyendocrine syndrome 1 APECED syndrome autoimmune regulator gene India |
url |
http://www.endocrineconnections.com/content/6/5/289.full |
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doaj-ca65f2eabb18494e9b7389078f0e7fb52020-11-25T03:33:39ZengBioscientificaEndocrine Connections2049-36142049-36142017-07-016528929610.1530/EC-17-0022Autoimmune polyendocrine syndrome type 1 in an Indian cohort: a longitudinal studyGhazala Zaidi0Vijayalakshmi Bhatia1Saroj K Sahoo2Aditya Narayan Sarangi3Niharika Bharti4Li Zhang5Liping Yu6Daniel Eriksson7Sophie Bensing8Olle Kämpe9Nisha Bharani10Surendra Kumar Yachha11Anil Bhansali12Alok Sachan13Vandana Jain14Nalini Shah15Rakesh Aggarwal16Amita Aggarwal17Muthuswamy Srinivasan18Sarita Agarwal19Eesh Bhatia20Department of Endocrinology, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, IndiaDepartment of Endocrinology, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, IndiaDepartment of Endocrinology, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, IndiaDepartment of Gastroenterology, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, IndiaDepartment of Endocrinology, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, IndiaDepartment of Immunology, Barbara Davis Centre for Childhood Diabetes, Denver, USADepartment of Immunology, Barbara Davis Centre for Childhood Diabetes, Denver, USADepartment of Medicine (Solna), Karolinska University Hospital, Karolinska Institutet, Stockholm, SwedenDepartment of Molecular Medicine and Surgery, Karolinska Institutet, and Department of Endocrinology, Metabolism and Diabetes, Karolinska University Hospital, Stockholm, SwedenDepartment of Medicine (Solna), Karolinska University Hospital, Karolinska Institutet, Stockholm, Sweden; Science for Life Laboratory, Department of Medical Sciences, Uppsala University, SwedenDepartment of Endocrinology, Amrita Institute of Medical Sciences, Kochi, IndiaDepartment of Paediatric Gastroenterology, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, IndiaDepartment of Endocrinology, Postgraduate Institute of Medical Education and Research, Chandigarh, IndiaDepartment of Endocrinology, Sri Venkateshwara Institute of Medical Sciences, Tirupathi, IndiaDepartment of Paediatrics, All India Institute of Medical Sciences, New Delhi, IndiaDepartment of Endocrinology, King Edward Memorial Hospital, Seth GS Medical College, Mumbai, IndiaDepartment of Gastroenterology, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, IndiaDepartment of Clinical Immunology, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, IndiaDepartment of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, IndiaDepartment of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, IndiaDepartment of Endocrinology, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, IndiaObjective: 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-α 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.http://www.endocrineconnections.com/content/6/5/289.fullautoimmune polyendocrine syndrome 1APECED syndromeautoimmune regulator geneIndia |