Autoimmune polyendocrine syndrome type 1 (APS-1) as a model for understanding autoimmune polyendocrine syndrome type 2 (APS-2)
نویسندگان
چکیده
منابع مشابه
Autoimmune Polyglandular Syndrome Type 2 (APS-2) in a 70-Year-Old Woman: A Case Report
Type2 autoimmune polyglandular (Schmidt) syndrome is defined by the occurrence of at least 2 out of 3 of the following manifestations, Addison's disease, Hypothyroidism and Type 1 diabetes mellitus. APS2 is a rare condition with an incidence of 1–2/100 000 per year. Prevalence of APS-2 is most happening in the range of 20-40 years of age. Here we present a patient who complained about loss of ...
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BACKGROUND Autoimmune polyendocrine syndrome type 1 (APS-1) is a multiorgan autoimmune disorder caused by mutations in AIRE, the autoimmune regulator gene. Though recent studies concerning AIRE deficiency have begun to elucidate the molecular pathogenesis of organ-specific autoimmunity in patients with APS-1, the autoantigen responsible for hypoparathyroidism, a hallmark of APS-1 and its most c...
متن کاملOral microbiota in autoimmune polyendocrine syndrome type 1
Background: Autoimmune polyendocrine syndrome type-1 (APS-1) is a rare, childhood onset disease caused by mutations in the Autoimmune Regulator gene. The phenotypic expression is highly variable and includes disease manifestations in the oral cavity, including mucocutaneous candidiasis. Increasing evidence suggests a potential role of the skin, oral and gut microbiotas in the pathogenesis of au...
متن کاملPituitary autoantibodies in autoimmune polyendocrine syndrome type 1.
Autoimmune polyendocrine syndrome type 1 (APS1) is a rare autosomal recessive disorder caused by mutations in the autoimmune regulator (AIRE) gene. High titer autoantibodies (Aabs) toward intracellular enzymes are a hallmark for APS1 and serve as diagnostic markers and predictors for disease manifestations. In this study, we aimed to identify pituitary autoantigens in patients with APS1. A pitu...
متن کاملProteome-wide survey of the autoimmune target repertoire in autoimmune polyendocrine syndrome type 1.
Autoimmune polyendocrine syndrome type 1 (APS1) is a monogenic disorder that features multiple autoimmune disease manifestations. It is caused by mutations in the Autoimmune regulator (AIRE) gene, which promote thymic display of thousands of peripheral tissue antigens in a process critical for establishing central immune tolerance. We here used proteome arrays to perform a comprehensive study o...
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ژورنال
عنوان ژورنال: Journal of Internal Medicine
سال: 2009
ISSN: 0954-6820,1365-2796
DOI: 10.1111/j.1365-2796.2009.02091.x