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Laboratorio della Clinica Pediatrica, IRCCS “Burlo Garofolo”, Trieste
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Key words: Autoimmunity, Immunodeficiency, APECED, IPEX
The recent identification of the genes involved in many primary immunodeficiency disorders has led to a significant increase in our understanding of the pathogenesis of these defects. Many of these disorders share common features, such as recurrent infections, chronic inflammation, and autoimmunity. The two main immunodeficiencies presenting with immunodeficiency and autoimmunity are: APECED (Autoimmune Polyendocrinopathy, Candidiasis and Ectodermal Distrophy) and IPEX (Immune dysregulation, Polyendocrinopathy, Enteropathy, X-linked syndrome). APECED is an autosomal-recessive syndrome caused by mutations in the autoimmune regulator gene AIRE and defined by two of the following conditions: chronic mucocutaneous candidiasis, hypoparathyroidism, or Addison’s disease. Other autoimmune conditions may be associated, such as hypothyroidism, hypogonadism, insulin dependent diabetes mellitus, chronic active hepatitis, pernicious anemia, alopecia and ectodermal dysplasia. IPEX is caused by mutations in FOXP3 gene and it is one of a group of clinical syndromes that present with multisystemic autoimmune disease suggesting a phenotype of immune dysregulation.
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