Results 41 to 50 of about 1,452 (154)

Fulminant hepatic failure in autoimmune polyendocrine syndrome type-1

Journal of the Royal College of Physicians of Edinburgh, 2015
Fulminant hepatic failure is liver disease that causes encephalopathy within 8 weeks of onset of symptoms or within 2 weeks of onset of jaundice in a patient without prior evidence of liver disease. Autoimmune polyendocrine syndrome type-1 is an autoimmune autosomal-recessive condition causing parathyroid and adrenal insufficiency, alopecia, chronic ...
R, Sinha, A R, Chapman, G T, Reid, P C, Hayes   +3 more
openaire   +2 more sources

Autoimmune Polyendocrine Syndrome Type 1 and NALP5, a Parathyroid Autoantigen

New England Journal of Medicine, 2008
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 ...
ALIMOHAMMADI M, BJÖRKLUND P, HALLGREN A, PÖNTYNEN N, SZINNAI G, SHIKAMA N, KELLERMP, EKWALL O, KINKEL SA, HUSEBYE ES, GUSTAFSSON J, RORSMAN F, PELTONEN L, BETTERLE, CORRADO, PERHEENTUPA J, AKERSTRÖM G, WESTIN G, SCOTT HS, HOLLÄNDER GA, KÄMPE O.   +19 more
openaire   +4 more sources

Autoimmune polyglandular syndromes

Лечащий Врач, 2023
Autoimmune polyendocrine syndromes (APS) are a group of syndromes characterized by autoimmune damage of two or more endocrine glands, leading most often to their hypofunction.
V. V. Smirnov, I. D. Gurova
doaj   +1 more source

A silent cause of shock: autoimmune polyglandular syndromes

European Journal of Case Reports in Internal Medicine
Addison’s disease is a rare, autoimmune condition leading to the destruction of the adrenal gland. Autoimmune conditions are known to commonly co-occur.
Mark Colantonio, Michelle Hartzell, Brooke Shannon, Apoorva Iyer   +3 more
doaj   +1 more source

Anti-perilipin-1 autoantibodies in autoimmune Addison’s disease and related endocrine disorders

Autoimmunity
Immune-mediated lipodystrophy syndromes are rare autoimmune disorders characterized by complete or partial destruction of adipocytes in the body. Recently, autoantibodies against perilipin-1 (PLIN1-autoAbs) have been linked to lipodystrophy.
Muhammad O. Rahman, Andre Sulen, Lars Breivik, Silke Appel, Mark S. Anderson, Bergithe E. Oftedal, Anette S. B. Wolff, Eystein S. Husebye   +7 more
doaj   +1 more source

Autoimmune Polyendocrine Syndrome Type 1: An Extensive Longitudinal Study in Sardinian Patients [PDF]

The Journal of Clinical Endocrinology & Metabolism, 2012
Autoimmune polyendocrine syndrome type 1 (APS1) is a childhood-onset monogenic disorder caused by mutations in the autoimmune regulator (AIRE) gene, including the distinctive R139X in Sardinia. Its rarity and great variability in manifestations/onset ages make early diagnosis difficult.
Meloni A, Willcox N, Meager A, Atzeni M, Wolff AS, Husebye ES, Furcas M, ROSATELLI, MARIA CRISTINA, Cao A, Congia M.   +9 more
openaire   +4 more sources

Pulmonary autoimmunity as a feature of autoimmune polyendocrine syndrome type 1 and identification of KCNRG as a bronchial autoantigen [PDF]

Proceedings of the National Academy of Sciences, 2009
Patients with autoimmune polyendocrine syndrome type 1 (APS-1) suffer from multiple organ-specific autoimmunity with autoantibodies against target tissue-specific autoantigens. Endocrine and nonendocrine organs such as skin, hair follicles, and liver are targeted by the immune system.
Alimohammadi, Mohammad, Dubois, Noémie, Sköldberg, Filip, Hallgren, Asa, Tardivel, Isabelle, Hedstrand, Håkan, Haavik, Jan, Husebye, Eystein, Gustafsson, Jan, Rorsman, Fredrik, Meloni, Antonella, Janson, Christer, Vialettes, Bernard, Kajosaari, Merja, Egner, William, Sargur, Ravishankar, Pontén, Fredrik, Amoura, Zahir, Grimfeld, Alain, de Luca, Filippo, Betterle, Corrado, Perheentupa, Jaakko, Kämpe, Olle, Carel, Jean-Claude   +23 more
openaire   +4 more sources

Dominant-negative heterozygous mutations in AIRE confer diverse autoimmune phenotypes

iScience, 2023
Summary: Autoimmune polyendocrine syndrome type 1 (APS-1) is an autosomal recessive disease characterized by severe and childhood onset organ-specific autoimmunity caused by mutations in the autoimmune regulator (AIRE) gene.
Bergithe E. Oftedal, Kristian Assing, Safa Baris, Stephanie L. Safgren, Isik S. Johansen, Marianne Antonius Jakobsen, Dusica Babovic-Vuksanovic, Katherine Agre, Eric W. Klee, Emina Majcic, Elise M.N. Ferré, Monica M. Schmitt, Tom DiMaggio, Lindsey B. Rosen, Muhammad Obaidur Rahman, Dionisios Chrysis, Aristeidis Giannakopoulos, Maria Tallon Garcia, Luis Ignacio González-Granado, Katherine Stanley, Jessica Galant-Swafford, Pim Suwannarat, Isabelle Meyts, Michail S. Lionakis, Eystein S. Husebye   +24 more
doaj   +1 more source

Evaluation of thyroglobulin autoantibodies in dogs at the time of diagnosis of hypoadrenocorticism and during treatment

Veterinary Record, EarlyView.
Abstract Background Autoimmune thyroiditis (AIT) may occur more frequently in dogs with hypoadrenocorticism (HA) than previously recognised. The objective of this study was to determine the presence of thyroglobulin autoantibodies (TgAAs) in dogs with HA.
Christin Emming, Sina Strey, Ina Leiter, Reinhard Mischke, Holger Volk, Marion Schmicke, Johanna Rieder   +6 more
wiley   +1 more source

When to consider an inborn error of immunity: clues for physicians

Internal Medicine Journal, EarlyView.
Abstract The term inborn errors of immunity (IEIs) refers to the rapidly expanding group of genetic disorders causing dysregulation of the immune system. With improved genetic testing in recent years, the number of defined IEIs and their range of phenotypic presentations has grown vastly, with more than 550 IEIs now described.
Meera Thangarajah, Lucinda J. Berglund
wiley   +1 more source