Results 31 to 40 of about 1,452 (154)

Autoimmune polyglandular syndrome type 1 with diabetes insipidus: a case report

BMC Endocrine Disorders, 2021
Background Autoimmune polyendocrine syndrome type 1 (APS-1) is a rare monogenic inherited disease caused by mutations of the autoimmune regulator gene (AIRE).
JiaQi Chen, Ting Lu, ChenXiao Liu, Yun Zhao, AiJie Huang, XingNa Hu, Min Li, Rong Xiang, Min Feng, HongHong Lu   +9 more
doaj   +1 more source

B Cells and Autoantibodies in AIRE Deficiency

Biomedicines, 2021
Autoimmune polyendocrine syndrome type 1 (APS-1) is a rare but severe monogenetic autoimmune endocrine disease caused by failure of the Autoimmune Regulator (AIRE).
Anette S. B. Wolff, Sarah Braun, Eystein S. Husebye, Bergithe E. Oftedal   +3 more
doaj   +1 more source

Proteome-wide survey of the autoimmune target repertoire in autoimmune polyendocrine syndrome type 1. [PDF]

Sci Rep, 2016
AbstractAutoimmune 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
Landegren N, Sharon D, Freyhult E, Hallgren Å, Eriksson D, Edqvist PH, Bensing S, Wahlberg J, Nelson LM, Gustafsson J, Husebye ES, Anderson MS, Snyder M, Kämpe O.   +13 more
europepmc   +10 more sources

Autoimmune polyendocrine syndrome type 1: case report and review of literature [PDF]

Arquivos Brasileiros de Endocrinologia & Metabologia, 2012
Autoimmune polyendocrine syndrome type 1 (APECED) is a rare autosomal recessive disorder characterized by autoimmune multiorgan attack. The disease is caused by mutations in the autoimmune regulator gene (AIRE), resulting in defective AIRE protein, which is essential for selftolerance. Clinical manifestations are widely variable.
Fernanda Guimarães, Weiler, Magnus R, Dias-da-Silva, Marise, Lazaretti-Castro   +2 more
openaire   +5 more sources

Hepatitis C virus infection in a child with autoimmune polyendocrine syndrome type 2: a case report

Journal of Medical Case Reports, 2012
Introduction Autoimmune polyendocrine syndrome type 2 is a rare disorder. Its prevalence in western populations has been reported as 1.5 to 4.5/100,000. On the other hand, its prevalence in Egypt is unknown.
Metwalley Kotb, Farghaly Hekma
doaj   +1 more source

Expanding the Phenotypic and Genotypic Landscape of Autoimmune Polyendocrine Syndrome Type 1 [PDF]

The Journal of Clinical Endocrinology & Metabolism, 2017
Autoimmune polyendocrine syndrome type 1 (APS-1) is a rare monogenic autoimmune disease caused by mutations in the autoimmune regulator (AIRE) gene and characterized by chronic mucocutaneous candidiasis, hypoparathyroidism, and primary adrenal insufficiency.
Elizaveta M, Orlova, Leila S, Sozaeva, Maria A, Kareva, Bergithe E, Oftedal, Anette S B, Wolff, Lars, Breivik, Ekaterina Y, Zakharova, Olga N, Ivanova, Olle, Kämpe, Ivan I, Dedov, Per M, Knappskog, Valentina A, Peterkova, Eystein S, Husebye   +12 more
openaire   +2 more sources

Autoimmune polyglandular syndrome type 2 in an 15-year-old boy

Pediatria Polska, 2022
Autoimmune polyendocrine syndromes (APS) include a diverse group of clinical conditions, characterized by functional impairment of many endocrine glands.
Andrzej Badeński, Marta Badeńska, Magdalena Mierzwa, Małgorzata Stojewska, Grażyna Deja, Maria Szczepańska, Katarzyna Ziora   +6 more
doaj   +1 more source

Long-term follow-up of autoimmune polyendocrine syndrome type 1 in Norway.

J Clin Endocrinol Metab
Abstract Context Autoimmune polyendocrine syndrome type 1 (APS-1) is a rare yet severe multiorgan autoimmune disease caused by mutations in the autoimmune regulator (AIRE) gene. Classical APS-1 arises from biallelic recessive AIRE mutations, whereas dominant negative mutations cause a milder ...
Kucuka I, Wolff ASB, Breivik L, Sjøgren T, Bratland E, Grytaas M, Lima K, Jørgensen AP, Nermoen I, Bakke Å, Singsås H, Svendsen M, Finnes TE, Nedrebø BG, Haug T, Grimnes G, Rensvik ML, Gjerde CG, Marthinussen MC, Øksnes M, Oftedal BE, Husebye ES.   +21 more
europepmc   +3 more sources

Delay in Diagnosis of Two Siblings with Severe Ocular Problems and Autoimmune Polyglandular Syndrome

Iranian Journal of Allergy, Asthma and Immunology, 2020
Autoimmune polyendocrine syndrome type 1 (APS1) is a scarce polyendocrinopathy with autosomal recessive inheritance results from defects in the human autoimmune regulatory (AIRE) gene.
Samin Sharafian, Marzieh Tavakol, Mohammad Gharagozlou, Nima Parvaneh   +3 more
doaj   +1 more source

Autoimmune polyendocrine syndromes associated with autoimmune rheumatic diseases

Rheumatology, 2023
Autoimmune polyendocrine syndromes (APSs), also called autoimmune polyglandular syndromes, are a group of autoimmune diseases characterized by the co-occurrence of dysfunctions of several (at least two) endocrine glands.
Katarzyna Jankowska, Piotr Dudek, Małgorzata Stasiek, Katarzyna Suchta   +3 more
doaj   +1 more source