ArticleEndocrine connections2017
Autoimmune polyendocrine syndrome type 1 in an Indian cohort: a longitudinal study.
Article in Endocrine connections, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
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Who cites it
22 citing papers in PubMed.
- Clinical, genetic, and immunologic features of APS-1 patients from the Middle East, and a review of the literature.Journal of human immunity · 2026Article
- Systematic and proactive evaluation of AIRE missense variant effects.American journal of human genetics · 2026Article
- Clinical spectrum and long-term follow-up of non-surgical hypoparathyroidism with novel AIRE and GATA3 variants from India.Endocrine · 2026Observational
- Systematic and proactive evaluation of AIRE missense variant effects.bioRxiv : the preprint server for biology · 2025Article
- Early-onset Chronic Keratitis as the First Presenting Component of Autoimmune Polyendocrine Syndrome Type 1: A Case Report and Review of the LiteratureJournal of clinical research in pediatric endocrinology · 2025Review
- Lessons From Prospective Longitudinal Follow-up of a French APECED Cohort.The Journal of clinical endocrinology and metabolism · 2025Observational
- Epidemiology and Causes of Primary Adrenal Insufficiency in Children: A Population-Based Study.The Journal of clinical endocrinology and metabolism · 2023Article
- Ocular features of autoimmune polyendocrinopathy candidiasis ectodermal dystrophy.BMJ case reports · 2023Article
- Dominant-negative heterozygous mutations in AIRE confer diverse autoimmune phenotypes.iScience · 2023Article
- French-Canadian families from Saguenay-Lac-Saint-Jean: a new founder population for APECED.Endocrine · 2022Article
- Recurrent Hypokalemia and Adrenal Steroids in Patients With APECED.Frontiers in endocrinology · 2022Article
- Autoimmune polyendocrine syndrome type 1: an Italian survey on 158 patients.Journal of endocrinological investigation · 2021Article
- Autoimmune hepatitis in genetic syndromes: A literature review.World journal of hepatology · 2021Review
- The challenges of chronic urticaria part 2: Pharmacological treatment, chronic inducible urticaria, urticaria in special situations.The World Allergy Organization journal · 2021Review
- Atypical presentation of autoimmune polyglandular syndrome type 1 in the fifth decade.BMJ case reports · 2021Article
- Autoimmune polyendocrine syndrome type 1 (APECED) in the Indian population: case report and review of a series of 45 patients.Journal of endocrinological investigation · 2021Review
- Patients With APECED Have Increased Early Mortality Due to Endocrine Causes, Malignancies and infections.The Journal of clinical endocrinology and metabolism · 2020Article
- Serotonin and tryptophan metabolites, autoantibodies and gut microbiome in APECED.Endocrine connections · 2019Article
- Lessons from primary immunodeficiencies: Autoimmune regulator and autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy.Immunological reviews · 2019Review
- Rapid whole-genome sequencing identifies a novelCold Spring Harbor molecular case studies · 2018Review
Corrections and comments
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Authors and funding
21 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveAutoimmune 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 (
designTwenty-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.
methodsClinical features, mortality, organ-specific autoantibodies and
resultsPatients 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
conclusionsIndian 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.
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