Zobrazeno 1 - 10
of 660
pro vyhledávání: '"APECED"'
Autor:
Margherita S. Silani, Edoardo Simonetta, Andrea Gramegna, Alessandro De Angelis, Francesco Blasi, Stefano Aliberti
Publikováno v:
BMC Pulmonary Medicine, Vol 24, Iss 1, Pp 1-5 (2024)
Abstract Background The rare monogenic syndrome Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy (APECED) leads to multisystemic autoimmunity with possible lung involvement. Autoimmune pneumonitis is a rare manifestation, with bronchiec
Externí odkaz:
https://doaj.org/article/32fc7d8d461a4c76998cdb7dc73cbbb3
Autor:
Kremena Markova, Nikolay Simeonov
Publikováno v:
Journal of IMAB, Vol 30, Iss 4, Pp 5806-5810 (2024)
Introduction: APECED (Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy) is a rare autosomal recessive disease with significant impacts on oral health, including oral candidiasis and varying degrees of enamel hypoplasia. Objective: To p
Externí odkaz:
https://doaj.org/article/6404e53c67e948b08dd629c6f24fdc46
Publikováno v:
Clinical Immunology Communications, Vol 5, Iss , Pp 30-33 (2024)
Autoimmune-Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy (APECED) is a monogenic autoimmune disease most often resulting from biallelic loss-of-function variants in the autoimmune regulator (AIRE) gene. Although typically characterized by the c
Externí odkaz:
https://doaj.org/article/54d00f83f2644c9491e72e2b5b4d9a62
Publikováno v:
International Journal of Infectious Diseases, Vol 144, Iss , Pp 107066- (2024)
We report a long-term remission in candidiasis in a 57-year-old Finnish female with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) suffering from recurrent oral, esophageal, gastric, vaginal, and anal candidiasis since childh
Externí odkaz:
https://doaj.org/article/3d5bcb3987e44b19a1a5449bd633f5e0
Publikováno v:
Сучасна педіатрія: Україна, Iss 4(132), Pp 99-103 (2023)
Alopecia (baldness) is a pathological hair loss. A chronic relapsing course leads to a violation of the emotional sphere of the child, worsens the quality of life. Alopecia is considered autoimmune, since it is characterized by hair loss due to lymph
Externí odkaz:
https://doaj.org/article/642819ea17564be8b7a908b5bdf549be
Akademický článek
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Autor:
Giorgia Paldino, Maria Felicia Faienza, Marco Cappa, Andrea Pietrobattista, Donatella Capalbo, Mariella Valenzise, Vito Lampasona, Annamaria Cudini, Elena Carbone, Olivia Pagliarosi, Giuseppe Maggiore, Mariacarolina Salerno, Corrado Betterle, Alessandra Fierabracci
Publikováno v:
Frontiers in Immunology, Vol 14 (2023)
IntroductionAutoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) syndrome is a rare monogenic disease determined by biallelic mutations in AIRE gene, which encodes a transcription factor essential for central immune tolerance. Clas
Externí odkaz:
https://doaj.org/article/788c085f8c4a4b618a838e8a8115d94b
Autor:
Florica Sandru, Razvan-Cosmin Petca, Mihai Cristian Dumitrascu, Aida Petca, Andreea-Iuliana Ionescu (Miron), Livia-Cristiana Baicoianu-Nitescu
Publikováno v:
Biomedicines, Vol 12, Iss 1, p 132 (2024)
Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED), or polyglandular autoimmune syndrome type 1 (PAS-1/APS-1), is a rare autosomal recessive disorder linked to mutations in the autoimmune regulator (AIRE) gene. This review provid
Externí odkaz:
https://doaj.org/article/865a1750665d4753a2cd8a09ab8ea836
Autor:
Aria Setoodeh, Samareh Panjeh-Shahi, Fariba Bahmani, Fatemeh Vand-Rajabpour, Nazanin Jalilian, Fatemeh Sayarifard, Farzaneh Abbasi, Azadeh Sayarifard, Parastoo Rostami, Nima Parvaneh, Haleh Akhavan-Niaki, Mohamadreza Ahmadifard, Mina Tabrizi
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-9 (2022)
Abstract Objective Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome (APECED) is a rare autosomal recessive systemic autoimmune disease caused by mutations in the autoimmune regulator (AIRE) gene. Incidence of this genetic disor
Externí odkaz:
https://doaj.org/article/5b6db6f799634bb7b7a4fc7d2be757a3
Publikováno v:
Frontiers in Pediatrics, Vol 11 (2023)
Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED), also known as autoimmune polyglandular syndrome type 1 (APS-1) is a rare autosomal recessive inborn error of immunity (IEI), which is accompanied by immune dysregulation. Hypopa
Externí odkaz:
https://doaj.org/article/b6b064ae811f406e93cb2c3298d6e125