Retinopathy as an initial sign of hereditary immunological diseases: report of six families and challenges in eye clinic
Y Wang, Y Jiang, J Wang, S Li, X Jia, X Xiao… - Frontiers in …, 2023 - frontiersin.org
Introduction Retinal degenerative or inflammatory changes may occur with hereditary
immunological disorders (HID) due to variants in approximately 20 genes. This study aimed …
immunological disorders (HID) due to variants in approximately 20 genes. This study aimed …
An Extraordinary Case of Autoimmune Polyendocrinopathy‐Candidiasis‐Ectodermal Dystrophy (APECED) Syndrome Misdiagnosed as Juvenile Idiopathic Arthritis on …
G Aytac, B Guven, I Aydin, E Topyildiz… - Case Reports in …, 2023 - Wiley Online Library
Background. APECED is a syndrome characterized by autoimmune polyendocrinopathy,
candidiasis, and ectodermal dystrophy. The most observed clinical findings are chronic …
candidiasis, and ectodermal dystrophy. The most observed clinical findings are chronic …
Clinical and genetic characteristics of hypoparathyroidism in children: a multicenter experience in China
Y Shen, W Yang, Q He, X Xu, Y Sun, Z Wang… - Journal of …, 2024 - Springer
Objective This study was aimed to analyze the clinical and genetic characteristics of
hypoparathyroidism in children. Methods We performed a retrospective analysis of 74 …
hypoparathyroidism in children. Methods We performed a retrospective analysis of 74 …
French-Canadian families from Saguenay-Lac-Saint-Jean: a new founder population for APECED
T Cruz Marino, H Villeneuve, J Leblanc, C Duranceau… - Endocrine, 2022 - Springer
Purpose Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is
more prevalent in some founder populations, but relatively unexplored in Canada. This …
more prevalent in some founder populations, but relatively unexplored in Canada. This …
Síndrome poliglandular autoimune tipo 1: a importância do cirurgião-dentista no diagnóstico na infância
G de Jesus Oliveira, LF Rodrigues… - LIBERTAS …, 2023 - periodicos.famig.edu.br
A síndrome poliglandular autoimune tipo I é uma doença autossômica recessiva rara,
causada por mutações genéticas, que se inicia geralmente na infância. É definida …
causada por mutações genéticas, que se inicia geralmente na infância. É definida …
[PDF][PDF] Case Report An Extraordinary Case of Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy (APECED) Syndrome Misdiagnosed as Juvenile …
Background. APECED is a syndrome characterized by autoimmune polyendocrinopathy,
candidiasis, and ectodermal dystrophy. Te most observed clinical findings are chronic …
candidiasis, and ectodermal dystrophy. Te most observed clinical findings are chronic …
[PDF][PDF] A Remarkable Case of Autoimmune Polyendocrinopathy, Candidiasis and Ectodermal Dystrophy Syndrome (APECED) misdiagnosed as Juvenile Idiopathic …
Background: APACED is a syndrome characterized by autoimmune polyendocrinopathy,
candidiasis and ectodermal dystrophy. The most often observed clinical ndings are chronic …
candidiasis and ectodermal dystrophy. The most often observed clinical ndings are chronic …
[引用][C] Skin manifestations during Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy syndrome
J Kassel, H Baybay, C Jroundi, S Elloudi, Z Douhi… - 2022