Results 11 to 20 of about 1,452 (154)

Early-onset Chronic Keratitis as the First Presenting Component of Autoimmune Polyendocrine Syndrome Type 1: A Case Report and Review of the Literature [PDF]

JCRPE
Autoimmune polyendocrine syndrome type 1 (APS-1), also referred to as autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy, is a rare monogenic autosomal recessive autoimmune disease. It is caused by mutations in the autoimmune regulator (AIRE)
Enver Şimşek, Tülay Şimşek, Oğuz Çilingir   +2 more
doaj   +2 more sources

Single cell characterization of blood and expanded regulatory T cells in autoimmune polyendocrine syndrome type 1 [PDF]

iScience
Summary: Immune tolerance fails in autoimmune polyendocrine syndrome type 1 (APS-1) because of AIRE mutations. We have used single cell transcriptomics to characterize regulatory T cells (Tregs) sorted directly from blood and from in vitro expanded Tregs
Thea Sjøgren, Shahinul Islam, Igor Filippov, Adrianna Jebrzycka, André Sulen, Lars E. Breivik, Alexander Hellesen, Anders P. Jørgensen, Kari Lima, Liina Tserel, Kai Kisand, Pärt Peterson, Annamari Ranki, Eystein S. Husebye, Bergithe E. Oftedal, Anette S.B. Wolff   +15 more
doaj   +2 more sources

New splice site acceptor mutation in AIRE gene in autoimmune polyendocrine syndrome type 1. [PDF]

PLoS ONE, 2014
Autoimmune polyglandular syndrome type 1 (APS-1, OMIM 240300) is a rare autosomal recessive disorder, characterized by the presence of at least two of three major diseases: hypoparathyroidism, Addison's disease, and chronic mucocutaneous candidiasis.
Mireia Mora, Felicia A Hanzu, Marta Pradas-Juni, Gloria B Aranda, Irene Halperin, Manuel Puig-Domingo, Sira Aguiló, Eduardo Fernández-Rebollo   +7 more
doaj   +2 more sources

A functional alternative splicing mutation in AIRE gene causes autoimmune polyendocrine syndrome type 1. [PDF]

PLoS ONE, 2013
Autoimmune polyendocrine syndrome type 1 (APS-1) is a rare autosomal recessive disease defined by the presence of two of the three conditions: mucocutaneous candidiasis, hypoparathyroidism, and Addison's disease.
Junyu Zhang, Hongbin Liu, Zhiyuan Liu, Yong Liao, Luo Guo, Honglian Wang, Lin He, Xiaodong Zhang, Qinghe Xing   +8 more
doaj   +2 more sources

Altered Immune Activation and IL-23 Signaling in Response to Candida albicans in Autoimmune Polyendocrine Syndrome Type 1 [PDF]

Frontiers in Immunology, 2017
ObjectiveAutoimmune polyendocrine syndrome type 1 (APS-1) is a rare, childhood onset disease caused by mutations in the autoimmune regulator (AIRE) gene. Chronic mucocutaneous candidiasis (CMC) is one of the three major disease components and is, to date,
Øyvind Bruserud, Eirik Bratland, Alexander Hellesen, Nicolas Delaleu, Nicolas Delaleu, Nicolas Delaleu, Håkon Reikvam, Bergithe E. Oftedal, Anette S. B. Wolff   +8 more
doaj   +2 more sources

Autoimmune polyendocrine syndrome type 1: an Italian survey on 158 patients. [PDF]

J Endocrinol Invest, 2021
Abstract Background Autoimmune Polyglandular Syndrome type 1 (APS-1) is a rare recessive inherited disease, caused by AutoImmune Regulator (AIRE) gene mutations and characterized by three major manifestations: chronic mucocutaneous candidiasis (CMC), chronic hypoparathyroidism (CH) and Addison’s disease (AD).
Garelli S, Dalla Costa M, Sabbadin C, Barollo S, Rubin B, Scarpa R, Masiero S, Fierabracci A, Bizzarri C, Crinò A, Cappa M, Valenzise M, Meloni A, De Bellis AM, Giordano C, Presotto F, Perniola R, Capalbo D, Salerno MC, Stigliano A, Radetti G, Camozzi V, Greggio NA, Bogazzi F, Chiodini I, Pagotto U, Black SK, Chen S, Rees Smith B, Furmaniak J, Weber G, Pigliaru F, De Sanctis L, Scaroni C, Betterle C.   +34 more
europepmc   +6 more sources

Autoimmune polyglandular syndrome type 1 with compound heterozygous AIRE gene pathogenic variants and stage 1 type 1 diabetes mellitus: case report and literature review of Chinese population [PDF]

Frontiers in Immunology
BackgroundAutoimmune polyendocrine syndrome type 1 (APS-1) is a rare monogenic autoimmune disorder caused by pathogenic variants in the AIRE gene, characterized by impaired central immune tolerance and multi-organ autoimmune damage.
Siruo Liu, Conghui Cao, Xiaoli Wang
doaj   +2 more sources

Longitudinal Immune Profiling in Autoimmune Polyendocrine Syndrome Type 1. [PDF]

Scand J Immunol
ABSTRACTAutoimmune polyendocrine syndrome Type‐1 (APS‐1) is a rare, but severe organ‐specific autoimmune disease caused by mutations in the autoimmune regulator (AIRE) gene. Lack of AIRE causes autoreactive T cells to escape negative selection and alters the T regulatory cell subset.
Kucuka I, Iraji D, Braun S, Breivik L, Wolff ASB, Husebye ES, Oftedal BE.   +6 more
europepmc   +3 more sources

The Role of Interferon-γ in Autoimmune Polyendocrine Syndrome Type 1. [PDF]

N Engl J Med
Autoimmune polyendocrine syndrome type 1 (APS-1) is a life-threatening, autosomal recessive syndrome caused by autoimmune regulator (AIRE) deficiency. In APS-1, self-reactive T cells escape thymic negative selection, infiltrate organs, and drive autoimmune injury.
Oikonomou V, Smith G, Constantine GM, Schmitt MM, Ferré EMN, Alejo JC, Riley D, Kumar D, Dos Santos Dias L, Pechacek J, Hadjiyannis Y, Webb T, Seifert BA, Ghosh R, Walkiewicz M, Martin D, Besnard M, Snarr BD, Deljookorani S, Lee CR, DiMaggio T, Barber P, Rosen LB, Cheng A, Rastegar A, de Jesus AA, Stoddard J, Kuehn HS, Break TJ, Kong HH, Castelo-Soccio L, Colton B, Warner BM, Kleiner DE, Quezado MM, Davis JL, Fennelly KP, Olivier KN, Rosenzweig SD, Suffredini AF, Anderson MS, Swidergall M, Guillonneau C, Notarangelo LD, Goldbach-Mansky R, Neth O, Monserrat-Garcia MT, Valverde-Fernandez J, Lucena JM, Gomez-Gila AL, Garcia Rojas A, Seppänen MRJ, Lohi J, Hero M, Laakso S, Klemetti P, Lundberg V, Ekwall O, Olbrich P, Winer KK, Afzali B, Moutsopoulos NM, Holland SM, Heller T, Pittaluga S, Lionakis MS.   +65 more
europepmc   +7 more sources

A Longitudinal Follow-up of Autoimmune Polyendocrine Syndrome Type 1. [PDF]

J Clin Endocrinol Metab, 2016
Autoimmune polyendocrine syndrome type 1 (APS1) is a childhood-onset monogenic disease defined by the presence of two of the three major components: hypoparathyroidism, primary adrenocortical insufficiency, and chronic mucocutaneous candidiasis (CMC).
Bruserud Ø, Oftedal BE, Landegren N, Erichsen MM, Bratland E, Lima K, Jørgensen AP, Myhre AG, Svartberg J, Fougner KJ, Bakke Å, Nedrebø BG, Mella B, Breivik L, Viken MK, Knappskog PM, Marthinussen MC, Løvås K, Kämpe O, Wolff AB, Husebye ES.   +20 more
europepmc   +10 more sources