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AIRE mutations and polymorphisms have been found in different autoimmune manifestations correlated or not correlated to APECED (26).
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.
An autoimmune disease, APECED, caused by mutations in a novel gene featuring the PHDtype zinc finger domains.
Fatal primary pulmonary hypertension in a 30-yr-old female with APECED syndrome.
Although APECED is generally rare, it is more frequent in certain populations: the Finnish, Iranian Jews, and Sardinians.
The APECED gene is the first which is solely responsible for regulation of autoimmunity and could be vital to future research.
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.
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).
Puhakka et al., "Aire deficient mice develop multiple features of APECED phenotype and show altered immune response," Human Molecular Genetics, vol.
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