Petrified pinna and pericarditis in autoimmune polyendocrine syndrome
نویسندگان
چکیده
منابع مشابه
Autoimmune polyendocrine syndrome: a case-based review.
You are seeing a 14-year-old white male athlete with atopy who complains of a 6-month history of progressive proximal muscle weakness, which significantly impacts his ability to run short distances and swing his baseball bat. His mother states he has presented to multiple emergency departments (ED) for continued weakness and that most diagnosed him with dehydration and educated the family on ho...
متن کاملAutoimmune polyendocrine syndrome type 1 and NALP5, a parathyroid autoantigen.
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 کاملAutoimmune polyendocrine syndromes.
N Engl J Med 2004;350:2068-79. Copyright © 2004 Massachusetts Medical Society. he autoimmune polyendocrine syndromes are diverse, and their diversity is a characteristic that is both clinically important and instructive when their basic immunologic features are considered (Table 1). 1-4 These syndromes include monogenic disorders (such as autoimmune polyendocrine syndrome type I, which has clas...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: BMJ Case Reports
سال: 2019
ISSN: 1757-790X
DOI: 10.1136/bcr-2019-229369