Genetic and immunologic aspects of autoimmune poliendocrine syndrome type I: review

Abstract

The autoimmune polyendocrinopathy syndrome type 1 (APS-1), also known as candidiasis ectodermal-autoimmune polyendocrinopathy-dystrophy (APECED), it is a rare autosomal recessive disorder caused by mutations in the autoimmune regulator gene (AIRE). Therefore, it is immunologically characterized by cell attack and / or antibodymediated generating the destruction of target organs. Furthermore, it is characterized by the pathognomonic triad chronic candidiasis, hypoparathyroidism and Addison's disease with many other endocrine and non-endocrine events. Soon, the diagnosis is made based on the presence of two of the three classic features and treatment aims to control the numerous deficiencies that patients may present. This literature review was aimed at understanding the involvement of AIRE gene in relation to immunological aspects present and, consequently, clinical manifestations of this disease. Thus, evidence of the need to broaden the discussion about this disease, in order to improve the quality of life of patients by early diagnosis and treatment and are in accordance with the clinical manifestations of each patient. Thereby, qualitative research involved scientific articles from electronic journals LILACS (Latin American and Caribbean), SCIELO (Scientific Electronic Library Online) and NCBI (National Center for Biotechnology Information), between the years 2009 and 2016. Pursuant to, there is the relevance of this review, it is noted that, although the authors converge on views on this syndrome, there are still many unclear matters with regard to the mechanisms of the disease. This highlights the need to promote more discussion on this topic.

Keywords

• Polyendocrinopathies autoimmunes
• Candidiasis
• Mutation
• Hypoparathyroidism