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

 

• 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

• Priolo M. Ectodermal dysplasias: An overview and update of clinical and molecular-functional mechanisms. American Journal of Medical Genetics, 149A:2003–2013, 2009

• 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

• 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

• 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

• 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

• Kisand K, Peterson P. Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy. Journal of Clinical Immunology, 35(5):463-478, 2015