APECED


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AcronymDefinition
APECEDAutoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy
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El sindrome autoinmune de poliendocrinopatia tipo I (APS1), tambien llamado poliendocrinopatia autoinmune-candidiasis-distrofia ectodermica (APECED) es un sindrome raro, generado por mutacion en el gen regulador autoinmune AIRE (Autoimmune Regulator) (24), generalmente autosomico recesivo, que genera produccion de autoanticuerpos neutralizantes (25) contra multiples citocinas como la IL-17A e IL-17F en un 41 a 75 % de los casos (10), (Tabla 1).
Candidiasis mucocutanea cronica: una mirada al entendimiento genetico
AIRE mutations and polymorphisms have been found in different autoimmune manifestations correlated or not correlated to APECED (26).
Association of AIRE Polymorphism and the Susceptibility to Multiple Sclerosis in Iranian Population
Kolmer, "Subcellular location and expression pattern of autoimmune regulator (Aire), the mouse orthologue for human gene defective in autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED)," Journal of Histochemistry & Cytochemistry, vol.
The Role of Autoimmune Regulator (AIRE) in Peripheral Tolerance
An autoimmune disease, APECED, caused by mutations in a novel gene featuring the PHDtype zinc finger domains.
Epidemiologic and genetic characteristics of alopecia areata (part 2)
APECED (Poliendocrinopatia autoinmune-candidiasis-Distrofia ectodermica)
Hepatitis autoinmune en ninos: clinica y manejo
Fatal primary pulmonary hypertension in a 30-yr-old female with APECED syndrome.
The etiopathogenesis of pulmonary hypertension: inflammation, vascular remodeling/Pulmoner hipertansiyonda etiyopatogenez: Inflamasyon, vaskuler yeniden sekillenme
Although APECED is generally rare, it is more frequent in certain populations: the Finnish, Iranian Jews, and Sardinians.
Chronic mucocutaneous candidiasis--an immunological mystery
The APECED gene is the first which is solely responsible for regulation of autoimmunity and could be vital to future research.
Legacy of fear locked in cells
Otoimmun poliendokrinopati (APECED), kandidiyaz, ektodermal displazi, otoimmun lenfoproliferatif sendrom (ALPS) ve immunodisregulasyon, poliendokrinopati, enteropati, X'e bagli cekinik gecis (IPEX) gibi uc PIY sendromunda otoimmunite daha sik gorulur.
Ataxia telangiectasia and secondary diseases/Ataksi telanjiektazi ve ikincil hastaliklar
Son altamente especificos para el tipo de HAI II, sin embargo, se asocia con otras patologias como hepatitis inducida por drogas, la poliendocrinopatia autoinmune-candidiasis-ectodermica (APECED), y la hepatitis cronica por infeccion viral C y D3.
Hepatitis autoinmune en ninos: diagnostico
Autoimmune polyglandular syndrome type 1 (autoimmune polyendocrine-candidiasis-ectodermal dystrophy; APECED), a rare autosomal recessive condition, in which incidence of autoimmune endocrine diseases of the parathyroid, thyroid, pancreas and adrenal is increased (9).
Co-existence of insulin dependent diabetes and graves' disease in a patient with Down syndrome/Down sendromlu bir hastada insuline bagimli diyabet ve graves hastaligi birlikteligi
Puhakka et al., "Aire deficient mice develop multiple features of APECED phenotype and show altered immune response," Human Molecular Genetics, vol.
Transplant tolerance: new insights and strategies for long-term allograft acceptance
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