Human APECED; a Sick Thymus Syndrome?
نویسندگان
چکیده
منابع مشابه
Human APECED; a Sick Thymus Syndrome?
Loss-of-function mutations in the Autoimmune Regulator (AIRE) gene cause a rare inherited form of autoimmune disease, autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy, also known as autoimmune polyglandular syndrome type 1. The patients suffer from multiple endocrine deficiencies, the most common manifestations being hypoparathyroidism, Addison's disease, hypogonadism, and seconda...
متن کاملGastrointestinal manifestations in APECED syndrome.
Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) (or autoimmune polyendocrine syndrome type 1) is a rare autosomal recessive disorder caused by mutations in the autoimmune regulator gene. It causes a loss in central immune tolerance, failure to eliminate autoreactive T cells in the thymus, and their escape to the periphery. APECED patients are susceptible to mucocutaneous...
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1. a. SSS b. SA block c. SA arrest Sick sinus syndrome is a disorder characterized by a dysfunctional sinus node. It is often idiopathic and a result of degenerative fibrosis of nodal tissue. Certain disorders such as amyloidosis, connective tissue disease, Chagas disease, and hemochromatosis are examples of intrinsic causes. Hypertensive heart disease and cardiomyopathies account for a smaller...
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A 50-year-old university professor originally from South America had a 3-day history of paroxysmal attacks of rapid palpitations accompanied by near syncope and followed by transient flushing of her head and neck. She had a history of rheumatic mitral valve stenosis due to rheumatic fever at age 15, for which successful mitral commissurotomy was performed at age 36. Subsequently, recurrent atta...
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ژورنال
عنوان ژورنال: Frontiers in Immunology
سال: 2013
ISSN: 1664-3224
DOI: 10.3389/fimmu.2013.00313