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Pediatr Infect Dis J 2021 Jan;40(1):66-69

From the Department of Pediatrics, Division of Pediatric Immunology, Hacettepe University Medical School, Ankara, Turkey.

Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) (polyglandular endocrinopathy type 1) is a rare autosomal recessive disorder caused by mutations in the autoimmune regulator gene (AIRE). The major clinical features of APECED are hypoparathyroidism, adrenal insufficiency (Addison disease), and chronic mucocutaneous candidiasis. This disease is also associated with multiple other and uncommon autoimmune (autoimmune hepatitis, autoimmune enteropathy, atrophic gastritis with or without pernicious anemia, gonadal failure, diabetes mellitus, hypothyroidism, functional hyposplenism), ectodermal (alopecia and vitiligo), and inflammatory (intestinal lung disease, nephritis) features. Read More

Int J Dermatol 2019 Jul 24;58(7):811-815. Epub 2019 Jan 24.

Dermatology Department, Farhat Hached University Hospital, Sousse, Tunisia.

Background: Alopecia areata (AA) is an autoimmune condition that usually presents as patchy, nonscarring hair loss. Autoimmune disorders and atopy are reported as comorbid conditions. We aimed to investigate the demographics, clinical characteristics, and associations of AA in Tunisian patients. Read More

Front Immunol 2018 13;9:1835. Epub 2018 Aug 13.

Infectivology and Clinical Trials Research Division, Bambino Gesù Children's Hospital, Rome, Italy.

Autoimmune-poly-endocrinopathy-candidiasis-ectodermal-dystrophy syndrome (APECED) is a rare monogenic recessive disorder caused by mutations in the autoimmune regulator () gene. Criteria for the diagnosis of APECED are the presence of two of the following disorders: chronic mucocutaneous candidiasis (CMC), chronic hypoparathyroidism (CHP), and Addison's disease. APECED develops at high incidence in Finns, Sardinians, and Iranian Jews and presents with a wide range of clinical phenotypes and genotypes. Read More

J Eur Acad Dermatol Venereol 2016 Feb 22;30(2):346-8. Epub 2014 Oct 22.

Institute of Dermatology, Policlinico A. Gemelli, Catholic University, Rome, Italy.

J Pediatr Endocrinol Metab 2014 Nov;27(11-12):1257-60

Autoimmune polyglandular syndrome type 1 (APS-1), also referred to as autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED), is a rare autoimmune disease that results from autosomal recessive mutations of the human autoimmune regulatory (AIRE) gene. We present the case of a 17-year-old North American girl of primarily Norwegian descent with a novel AIRE gene mutation causing APS-1. In addition to the classic triad of chronic candidiasis, hypoparathyoidism and autoimmune adrenocortical insufficiency, she also has vitiligo, intestinal malabsorption, autoimmune hepatitis, autoimmune hypothyroidism, myositis, myalgias, chronic fatigue, and failure to thrive. Read More