APECED sendromu
(autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy)
Kalıtsal - AD/AR
Primer immun yetmezlik sendromu türü
İlk belirtiler çocukluk yaşlarında
Otoimmun poliendokrinopati (hipoparatiroidizm, Addison hastalığı, hipotiroidizm, hipogonadizm, diabetes mellitus-tip 1)
Hipoparatiroidizm: hipokalsemi
Hipoadrenalkortisizm: Addison hastalığı
Hipogonadizm: infertilite
Otoimmun tiroidit
Aspleni
Kronik mukokütane candidiasis
0-10 yaşlarında oral candida infeksiyonu (trush)
Oral candida infeksiyonunda özofagusa dek ilerleme
Addison hastalığına eşlik eden oral melanin pigmentasyonu
Mine hipoplazisi
Göz bulguları: keratokonjunktivit, retinopati
Ektodermal displazi: vitiligo, saçlar kuru-kırılgan, alopesi
Deride ürtiker türü lezyonlar
Tırnaklarda candida infeksiyonu
Çeşitli organlarda inflamasyonlar
Kronik atrofik gastrit
Pernisiyöz anemi
Kronik aktif hepatit ve biliyer siroz
Kolelityazis
Malabsorpsiyon
Diyare
Diabet komplikasyonları
Kafaiçi basıncı artışı bulguları
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Wolff ASB, Erichsen MM, Meager A, et al. Autoimmune Polyendocrine Syndrome Type 1 in Norway: Phenotypic Variation, Autoantibodies, and Novel Mutations in the Autoimmune Regulator Gene, Journal of Clinical Endocrinology & Metabolism, 92(2):595–603, 2007
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Priolo M. Ectodermal dysplasias: An overview and update of clinical and molecular-functional mechanisms. American Journal of Medical Genetics, 149A:2003–2013, 2009
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Husebye ES, Perheentupa J, Rautemaa R, Kämpe O. Clinical manifestations and management of patients with autoimmune polyendocrine syndrome type I. Journal of Internal Medicine, 265(5):514–529, 2009
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Laakso SM, Kekalainen E, Rossi LH, et al. IL-7 Dysregulation and loss of CD8+ T cell homeostasis in the monogenic human disease Autoimmune Polyendocrinopathy–Candidiasis–Ectodermal Dystrophy, Journal of Immunology, 187(4):2023-2030, 2011
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Kisand K, Peterson P. Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy and other primary immunodeficiency diseases help to resolve the nature of protective immunity against chronic mucocutaneous candidiasis. Current Opinion in Pediatrics, 25(6):715-721, 2013
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Sarkadi AK, Tasko S, Csorba G, et al. Autoantibodies to IL-17A may be Correlated with the Severity of Mucocutaneous Candidiasis in APECED Patients, Journal of Clinical Immunology, 34(2)181-193, 2014
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Kisand K, Peterson P. Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy. Journal of Clinical Immunology, 35(5):463-478, 2015