Results 1 to 10 of about 1,452 (154)

Recurrent Autoimmune Encephalitis in a Patient With Autoimmune Polyendocrine Syndrome Type 1 [PDF]

Case Reports in Critical Care
Autoimmune polyendocrine syndrome Type 1, also known as autoimmune polyendocrinopathy–candidiasis–ectodermal dystrophy (APS-1/APECED), is a rare monogenic autoimmune disorder with increasing recognition of neurologic manifestations.
Jason T. Stemple, Kamal Abulebda, Grace F. Ryan, Nadine G. Haddad, Alden F. Dewey, Jennah C. Foltz, Laurence E. Walsh, Riad Lutfi   +7 more
doaj   +4 more sources

A novel AIRE mutation leads to autoimmune polyendocrine syndrome type-1 [PDF]

Frontiers in Cell and Developmental Biology, 2022
Autoimmune polyendocrine syndrome type-1 (APS-1) is a rare inherited monogenic autoimmune disease characterized by the presence of at least two of three following major clinical features: chronic mucocutaneous candidiasis, hypoparathyroidism, and adrenal
Guofeng Qian, Xiaoyi Yan, Junli Xuan, Danfeng Zheng, Zhiwen He, Jianguo Shen   +5 more
doaj   +6 more sources

Oral microbiota in autoimmune polyendocrine syndrome type 1 [PDF]

Journal of Oral Microbiology, 2018
Background: Autoimmune polyendocrine syndrome type-1 (APS-1) is a rare, childhood onset disease caused by mutations in the Autoimmune Regulator gene.
Øyvind Bruserud, Huma Siddiqui, Mihaela Cuida Marthinussen, Tsute Chen, Roland Jonsson, Bergithe Eikeland Oftedal, Ingar Olsen, Eystein Sverre Husebye, Anette Bøe Wolff   +8 more
doaj   +8 more sources

Oral Tongue Malignancies in Autoimmune Polyendocrine Syndrome Type 1 [PDF]

Frontiers in Endocrinology, 2018
Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) or Autoimmune polyendocrine syndrome type-1 (APS-1) (APECED, OMIM 240300) is a rare, childhood onset, monogenic disease caused by mutations in the Autoimmune Regulator (AIRE) gene ...
Øyvind Bruserud, Øyvind Bruserud, Daniela-Elena Costea, Daniela-Elena Costea, Daniela-Elena Costea, Saila Laakso, Saila Laakso, Ben-Zion Garty, Ben-Zion Garty, Eirik Mathisen, Antti Mäkitie, Outi Mäkitie, Outi Mäkitie, Eystein S. Husebye, Eystein S. Husebye, Eystein S. Husebye   +15 more
doaj   +6 more sources

Chronic Mucocutaneous Candidiasis in Autoimmune Polyendocrine Syndrome Type 1 [PDF]

Frontiers in Immunology, 2018
Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED) is an autosomal recessive disease caused by mutations in the autoimmune regulator (AIRE) gene, characterized by the clinical triad of chronic mucocutaneous candidiasis (CMC ...
Linda Humbert, Marjorie Cornu, Marjorie Cornu, Emmanuelle Proust-Lemoine, Jagadeesh Bayry, Jean-Louis Wemeau, Marie-Christine Vantyghem, Marie-Christine Vantyghem, Marie-Christine Vantyghem, Boualem Sendid, Boualem Sendid   +10 more
doaj   +6 more sources

Autoimmune polyendocrine syndrome type 1 in an Indian cohort: a longitudinal study [PDF]

Endocrine Connections, 2017
Objective: Autoimmune polyendocrine syndrome type 1 (APS1) is a rare autosomal recessive disorder characterized by progressive organ-specific autoimmunity. There is scant information on APS1 in ethnic groups other than European Caucasians.
Ghazala Zaidi, Vijayalakshmi Bhatia, Saroj K Sahoo, Aditya Narayan Sarangi, Niharika Bharti, Li Zhang, Liping Yu, Daniel Eriksson, Sophie Bensing, Olle Kämpe, Nisha Bharani, Surendra Kumar Yachha, Anil Bhansali, Alok Sachan, Vandana Jain, Nalini Shah, Rakesh Aggarwal, Amita Aggarwal, Muthuswamy Srinivasan, Sarita Agarwal, Eesh Bhatia   +20 more
doaj   +6 more sources

Whitaker syndrome: A case report of autoimmune polyendocrine syndrome type 1 with dilated cardiomyopathy [PDF]

Clinical Case Reports
Key Clinical Message This case report highlights dilated cardiomyopathy as a cardiovascular complication in autoimmune polyendocrine syndrome type 1 (APS‐1), emphasizing the need for early recognition and a multidisciplinary approach.
Ali Gohar, Bilal Ahmed, Shahroz Azhar, Aqsa Iqbal, Ali Usman, Muhammad Husnain Ahmad, Masab Ali, Muhammad Daim Jawaid   +7 more
doaj   +4 more sources

Characterization of the clinical and genetic spectrum of autoimmune polyendocrine syndrome type 1 in Chinese case series [PDF]

Orphanet Journal of Rare Diseases, 2021
Background Autoimmune polyendocrine syndrome type 1 (APS1) is a hereditary disease caused by mutations in the AIRE gene with both endocrine and non-endocrine organ involvement. The existing data from China are limited, and this study aims to describe the
Ya-Bing Wang, Ou Wang, Min Nie, Yan Jiang, Mei Li, Wei-Bo Xia, Xiao-Ping Xing   +6 more
doaj   +2 more sources

A novel compound heterozygous mutation of the gene in a patient with autoimmune polyendocrine syndrome type 1 [PDF]

Annals of Pediatric Endocrinology & Metabolism, 2019
Autoimmune polyendocrine syndrome type 1 (APS-1), or autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy is a rare, autosomal recessive autoimmune disease caused by a mutation of the autoimmune regulator (AIRE) gene.
Junghwan Suh, Han Saem Choi, Ahreum Kwon, Hyun Wook Chae, Jin-Sung Lee, Ho-Seong Kim   +5 more
doaj   +2 more sources

A partial form of AIRE deficiency underlies a mild form of autoimmune polyendocrine syndrome type 1 [PDF]

The Journal of Clinical Investigation, 2023
Autoimmune polyendocrine syndrome type 1 (APS-1) is caused by mutations in the autoimmune regulator (AIRE) gene. Most patients present with severe chronic mucocutaneous candidiasis and organ-specific autoimmunity from early childhood, but the clinical ...
Bergithe Eikeland Oftedal, Amund Holte Berger, Øyvind Bruserud, Yael Goldfarb, Andre Sulen, Lars Breivik, Alexander Hellesen, Shifra Ben-Dor, Rebecca Haffner-Krausz, Per M. Knappskog, Stefan Johansson, Anette S.B. Wolff, Eirik Bratland, Jakub Abramson, Eystein Sverre Husebye   +14 more
doaj   +2 more sources