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Autoimmune polyendocrine syndrome type 1 (APECED) in the Indian population: case report and review of a series of 45 patients

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Abstract

Background

Autoimmune polyendocrinopathy-candidiasis-ectodermal-dystrophy (APECED) or autoimmune polyglandular syndrome type 1 (APS-1) is a rare autosomal recessive genetic disease due to mutations in the AIRE (AutoImmune REgulator) gene. The clinical diagnosis is classically based on the presence of at least two of the three main components: chronic mucocutaneous candidiasis, hypoparathyroidism and primary adrenal insufficiency. Patients often suffer from other endocrine or non-endocrine autoimmune conditions throughout life. APECED etiopathogenesis is mediated by T lymphocytes. Autoantibodies against proteins of the affected organs are found in the serum of APECED patients as well as neutralizing antibodies against cytokines. We report here the clinical and genetic characteristics of 45 Indian APECED patients in comparison to Finnish, Sardinian, Turkish and North/South American cohorts from their published results. We also report a new case of APECED of Indian origin, a 2-year old child suffering from chronic mucocutaneous candidiasis since the age of 8 months, with confirmatory AIRE homozygous mutation c.274C > T (p.R92W).

Conclusion

With the inherent limitations of a retrospective study, analysis of Indian APECED patients suggested that compared to classic criteria, application of Ferre/Lionakis criteria validated in North/South American patients could help in earlier diagnosis in 3 of 8 (37.5%) patients for whom adequate information for evaluation was available.

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Funding

This research was funded by the Italian Ministry of Health Ricerca Corrente RC2019.1.6.

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Authors and Affiliations

  1. Infectivology and Clinical Trials Research Department, Bambino Gesù Children’s Hospital, IRCCS, Rome, Italy

    A. Fierabracci, A. Arena & F. Toto

  2. Laboratory Medicine, Department of Medicine (DIMED), University of Padua, Padua, Italy

    N. Gallo

  3. Laboratory of Human Genetics of Infectious Diseases, INSERM UMR 1163, Imagine Institute, University of Paris, Paris, France

    A. Puel & M. Migaud

  4. Department of Clinical Immunology, JIPMER, Pondicherry, India

    M. Kumar, K. G. Chengappa & V. S. Negi

  5. Endocrine Unit, Department of Medicine (DIMED), University of Padua, Padua, Italy

    R. Gulati & C. Betterle

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  1. A. Fierabracci
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Contributions

AF wrote the manuscript, performed literature search and supervised the experimental work. AA and FT performed literature search and conduct analysis of the AIRE gene. NG, AP and MM performed autoantibodies assays. MK, CKG, RG, VSN conducted the clinical investigation on the patient and his family. CB critically revised the manuscript.

Corresponding author

Correspondence to A. Fierabracci.

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Fierabracci, A., Arena, A., Toto, F. et al. Autoimmune polyendocrine syndrome type 1 (APECED) in the Indian population: case report and review of a series of 45 patients. J Endocrinol Invest 44, 661–677 (2021). https://doi.org/10.1007/s40618-020-01376-5

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