Pillole: per capire
Candidiasi resistente agli antimicotici in un lattante
CANDIDIASIS RESISTANT TO ANTI-FUNGAL THERAPY
Raffaele Badolato
Clinica Pediatrica dell’Università di Brescia
Dicembre 2009 - pagg. 654 -656
Abstract
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.
Parole chiave
Suggerite dall'AI
Classificazione MeSH
Bibliografia
• Ahonen P, Myllarniemi S, Perheentupa J. Clinical
variation of autoimmune polyendocrinopathy
- candidiasis - ectodermal dystrophy
(APECED) in a series of 68 patients. N Engl J
Med 1990;322:1829-35.
• Alimohammadi M, Björklund P, Hallgren A, et al. Autoimmune polyendocrine syndrome type 1 and NALP5, a parathyroid autoantigen. N Engl J Med 2008;358:1018-28.
• Badolato R, Rosatelli MC. La poliendocrinopatia autoimmune di tipo 1. Prospettive in Pediatria 2002;32:313-8.
• Bensing S, Fetissov S, Mulder J, et al. Pituitary autoantibodies in autoimmune polyendocrine syndrome type 1. Proc Natl Acad Sci USA 2007;104:949-54.
• Cavadini P, Vermi W, Facchetti F, et al. AIRE deficiency in thymus of 2 patients with Omenn syndrome. J Clin Invest 2005;115:728-32.
• Dittmar M, Kahaly GJ. Polyglandular Autoimmune Syndromes: Immunogenetics and long-term follow-up. J Clin Endocrinol Metab 2003;88:2983-92.
• Eisenbarth GS, Gottlieb PA. Autoimmune polyendocrine syndrome. N Engl J Med 2004; 350:2068-79.
• Gardner JM, DeVoss JJ, Friedman RS, et al. Deletional tolerance mediated by extrathymic AIRE expressing cells. Science 2008;321:843- 7.
• Gylling M, Kääriäinen E, Väisänen R, et al. The hypoparathyroidism of autoimmune polyendocrinopathy - candidiasis - ectodermal dystrophy protective effect of male sex. J Clin Endocrinol Metab 2003;88:4602-8.
• Heino M, Peterson P, Kudoh J, et al. APECED mutations in the autoimmune regulator (AIRE) gene. Hum Mutat 2001;18:205-11.
• Ishii T, Suzuki Y, Ando N, Matsuo N, Ogata T. Novel mutations of the autoimmune regulator gene in two siblings with autoimmune polyendocrinopathy - candidiasis - ectodermal dystrophy. J Clin Endocrinol Metab 2000;85: 2922-6.
• Kuroda N, Mitani T, Takeda N, et al. Development of autoimmunity against transcriptionally unrepressed target antigen in the thymus of AIRE-deficient mice. J Immunol 2005; 174:1862-70.
• Notarangelo LD, Mazza C, Forino C, Mazzolari E, Buzi F. AIRE and immunological tolerance: insights from the study of autoimmune polyendocrinopathy candidiasis and ectodermal dystrophy. Curr Opin Allergy Clin Immunol 2004;4:491-6.
• Perheentupa J. Autoimmune polyendocrinopathy - candidiasis - ectodermal dystrophy. J Clin Endocrinol Metab 2006;91:2843-50.
• Pitkänen J, Doucas V, Sternsdorf T, et al. The autoimmune regulator protein has transcriptional transactivating properties and interacts with the common coactivator CREB-binding protein. J Biol Chem 2000;275:16802-9.
• Pitkanen J, Peterson P. Autoimmune regulator: from loss of function to autoimmunity. Gen Immun 2003;4:12-21.
• Rioux JD, Abbas AK. Paths to under standing the genetic basis of autoimmune disease. Nature 2005;435:584-8.
• Su MA, Anderson MS. AIRE: an update. Curr Opin Immunol 2004;16:746-52.
• Tazi-Ahnini R, Cork MJ, Gawkrodger DJ, Birch MP, Wengraf AJG, Messenger AG. Role of the autoimmune regulator (AIRE) gene in alopecia areata: strong association of a potentially functional AIRE polymorphism with alopecia universalis. Tissue Antigens 2002;60: 489-95.
• Tazi-Ahnini R, McDonagh AJ, Wengraf DA, et al. The autoimmune regulator gene (AIRE) is strongly associated with vitiligo. Br J Dermatol 2008;159:591-6.
• Vogel A, Strassburg C, Obermayer-Straub P, Brabant G, Manns MP. The genetic background of autoimmune polyendocrinopathycandidiasis- ectodermal dystrophy and its autoimmune disease components. J Mol Med 2002;80:201-11.
• Alimohammadi M, Björklund P, Hallgren A, et al. Autoimmune polyendocrine syndrome type 1 and NALP5, a parathyroid autoantigen. N Engl J Med 2008;358:1018-28.
• Badolato R, Rosatelli MC. La poliendocrinopatia autoimmune di tipo 1. Prospettive in Pediatria 2002;32:313-8.
• Bensing S, Fetissov S, Mulder J, et al. Pituitary autoantibodies in autoimmune polyendocrine syndrome type 1. Proc Natl Acad Sci USA 2007;104:949-54.
• Cavadini P, Vermi W, Facchetti F, et al. AIRE deficiency in thymus of 2 patients with Omenn syndrome. J Clin Invest 2005;115:728-32.
• Dittmar M, Kahaly GJ. Polyglandular Autoimmune Syndromes: Immunogenetics and long-term follow-up. J Clin Endocrinol Metab 2003;88:2983-92.
• Eisenbarth GS, Gottlieb PA. Autoimmune polyendocrine syndrome. N Engl J Med 2004; 350:2068-79.
• Gardner JM, DeVoss JJ, Friedman RS, et al. Deletional tolerance mediated by extrathymic AIRE expressing cells. Science 2008;321:843- 7.
• Gylling M, Kääriäinen E, Väisänen R, et al. The hypoparathyroidism of autoimmune polyendocrinopathy - candidiasis - ectodermal dystrophy protective effect of male sex. J Clin Endocrinol Metab 2003;88:4602-8.
• Heino M, Peterson P, Kudoh J, et al. APECED mutations in the autoimmune regulator (AIRE) gene. Hum Mutat 2001;18:205-11.
• Ishii T, Suzuki Y, Ando N, Matsuo N, Ogata T. Novel mutations of the autoimmune regulator gene in two siblings with autoimmune polyendocrinopathy - candidiasis - ectodermal dystrophy. J Clin Endocrinol Metab 2000;85: 2922-6.
• Kuroda N, Mitani T, Takeda N, et al. Development of autoimmunity against transcriptionally unrepressed target antigen in the thymus of AIRE-deficient mice. J Immunol 2005; 174:1862-70.
• Notarangelo LD, Mazza C, Forino C, Mazzolari E, Buzi F. AIRE and immunological tolerance: insights from the study of autoimmune polyendocrinopathy candidiasis and ectodermal dystrophy. Curr Opin Allergy Clin Immunol 2004;4:491-6.
• Perheentupa J. Autoimmune polyendocrinopathy - candidiasis - ectodermal dystrophy. J Clin Endocrinol Metab 2006;91:2843-50.
• Pitkänen J, Doucas V, Sternsdorf T, et al. The autoimmune regulator protein has transcriptional transactivating properties and interacts with the common coactivator CREB-binding protein. J Biol Chem 2000;275:16802-9.
• Pitkanen J, Peterson P. Autoimmune regulator: from loss of function to autoimmunity. Gen Immun 2003;4:12-21.
• Rioux JD, Abbas AK. Paths to under standing the genetic basis of autoimmune disease. Nature 2005;435:584-8.
• Su MA, Anderson MS. AIRE: an update. Curr Opin Immunol 2004;16:746-52.
• Tazi-Ahnini R, Cork MJ, Gawkrodger DJ, Birch MP, Wengraf AJG, Messenger AG. Role of the autoimmune regulator (AIRE) gene in alopecia areata: strong association of a potentially functional AIRE polymorphism with alopecia universalis. Tissue Antigens 2002;60: 489-95.
• Tazi-Ahnini R, McDonagh AJ, Wengraf DA, et al. The autoimmune regulator gene (AIRE) is strongly associated with vitiligo. Br J Dermatol 2008;159:591-6.
• Vogel A, Strassburg C, Obermayer-Straub P, Brabant G, Manns MP. The genetic background of autoimmune polyendocrinopathycandidiasis- ectodermal dystrophy and its autoimmune disease components. J Mol Med 2002;80:201-11.
Corrispondenza: badolato@med.unibs.it