Pillole: per capire
Clinica Pediatrica dell’Università di Brescia
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Key words: Mucocutaneous candidiasis, Immunodeficiency, Autoimmune PolyEndocrinopathy Candidiasis Ectodermal Distrophy
Mucocutaneous candidiasis constitutes a symptom that can be observed as presenting manifestation of many primary immunodeficiency. However, candidiasis being resistant to anti- fungal therapy can constitute the first symptom of Autoimmune PolyEndocrinopathy Candidiasis Ectodermal Distrophy (APECED). The disease is inherited as autosomal recessive disorder that is caused by mutations of AIRE gene encoding for an intracellular protein which is expressed by medullary epithelial cells. Recent evidence in mice suggests that AIRE expression regulates thymic selection of self-reactive T cell clones, thereby contributing to central tolerance for self-antigens.
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