Zobrazeno 1 - 10
of 520
pro vyhledávání: '"ipex syndrome"'
Publikováno v:
Frontiers in Pediatrics, Vol 12 (2024)
Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome is a monogenic disorder characterized by multi-systemic autoimmunity secondary to loss-of-function mutations in the gene coding the forkhead box P3 (FOXP3) transcription
Externí odkaz:
https://doaj.org/article/1ff093c1aac0485c8625e3efeea01b60
Publikováno v:
JPRAS Open, Vol 36, Iss , Pp 19-23 (2023)
Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome is a rare primary immunodeficiency, typically associated with clinical features of intractable diarrhoea, type 1 diabetes mellitus and eczema. We present a case of IPEX s
Externí odkaz:
https://doaj.org/article/7ca0966102904a14b6464c8294e74ec4
Autor:
Rebeca Kennedy-Batalla, Daniel Acevedo, Yiyi Luo, Ana Esteve-Solé, Alexandru Vlagea, Rafael Correa-Rocha, Ma Elena Seoane-Reula, Laia Alsina
Publikováno v:
Frontiers in Immunology, Vol 14 (2024)
Regulatory T cells (Treg) are essential for immune balance, preventing overreactive responses and autoimmunity. Although traditionally characterized as CD4+CD25+CD127lowFoxP3hi, recent research has revealed diverse Treg subsets such as Tr1, Tr1-like,
Externí odkaz:
https://doaj.org/article/079e20a6751d489581f5e2b0aa1c5aed
Autor:
Yohei Sato, Abinaya Nathan, Suzette Shipp, John Fraser Wright, Keri Marie Tate, Prachi Wani, Maria-Grazia Roncarolo, Rosa Bacchetta
Publikováno v:
Molecular Therapy: Methods & Clinical Development, Vol 31, Iss , Pp 101150- (2023)
Forkhead box P3 (FOXP3) is an essential transcription factor for regulatory T cell (Treg) function. Defects in Tregs mediate many immune diseases including the monogenic autoimmune disease immune dysregulation, polyendocrinopathy, enteropathy, X-link
Externí odkaz:
https://doaj.org/article/4857ed24484f46b1a8ddb706e314c3fb
Akademický článek
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Autor:
Sophy Korula, Lavanya Ravichandran, Praveen G Paul, Jabasteen Johnson, Aaron Chapla, Sridhar Santhanam, Anna Simon, Sarah Mathai
Publikováno v:
Indian Journal of Endocrinology and Metabolism, Vol 26, Iss 1, Pp 79-86 (2022)
Aim and Objectives: 1. To study the clinical outcome, growth and glycaemic control, 2. To study the frequency and type of genetic mutations. Methods: This is a retrospective study with a review of data of medical records from 2008 till date. Results:
Externí odkaz:
https://doaj.org/article/6499b13e5c4b49db806002a1aa7ab9f6
Autor:
Yu Huang, Shuyu Fang, Ting Zeng, Junjie Chen, Lu Yang, Gan Sun, Rongxin Dai, Yunfei An, Xuemei Tang, Ying Dou, Xiaodong Zhao, Lina Zhou
Publikováno v:
Frontiers in Immunology, Vol 13 (2022)
BackgroundImmune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome is a rare disorder of the immune regulatory system caused by forkhead box P3 (FOXP3) mutations. Abnormal numbers or functions of regulatory T (Treg) cells accou
Externí odkaz:
https://doaj.org/article/ccd780da2fcf4970936486762196510a
Publikováno v:
Pediatrics and Neonatology, Vol 62, Iss 2, Pp 172-180 (2021)
Background: Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome is a rare disorder caused by mutation of the forkhead box protein 3 (FOXP3) gene, often leading to intractable and life-threatening diarrhea. Fecal microbiota
Externí odkaz:
https://doaj.org/article/da40ce533d324d68aa643af767d6c6c9
Autor:
Panicos Shangaris, Alison Ho, Andreas Marnerides, Simi George, Mudher AlAdnani, Shu Yau, Mattias Jansson, Jacqueline Hoyle, Joo Wook Ahn, Sian Ellard, Melita Irving, Diana Wellesley, Dharmintra Pasupathy, Muriel Holder-Espinasse
Publikováno v:
BMC Medical Genomics, Vol 14, Iss 1, Pp 1-5 (2021)
Abstract Background Fetal hydrops is excessive extravasation of fluid into the third space in a fetus, which could be due to a wide differential of underlying pathology. IPEX (immune dysregulation, polyendocrinopathy, enteropathy, X-linked) syndrome
Externí odkaz:
https://doaj.org/article/f48e1806fb4145e098138ac8ad1585b9
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 10, Iss 6, Pp n/a-n/a (2022)
Abstract Background Immune dysregulation, polyendocrinopathy, enteropathy, X‐linked (IPEX) syndrome is a monogenic immunodeficiency disease caused by forkhead box protein3 (FOXP3) mutation. The kidney is commonly involved in IPEX syndrome, but ther
Externí odkaz:
https://doaj.org/article/b238904f957d4de18ff367375dcfa7f9