نتایج جستجو برای: il2ra
تعداد نتایج: 257 فیلتر نتایج به سال:
Results The mutation detected was a defect of the common gamma chain of the interleukin 2 receptor (IL2Rg). Even though genetic counseling advised otherwise the patient’s mother got pregnant during follow-up and as no compatible donor was found we chose to wait birth and verify compatibility. Genetic evaluation of the newborn revealed the absence of the IL2Rg gene defect in blood cord and a mat...
The interleukin-2 receptor alpha chain (IL-2Ra, CD25) plays a major part in shaping the dynamics of T cell populations following immune activation, due to its role in T cell proliferation and survival. Strategies to blunt the effector responses in transplantation have been developed by devising pharmaceutical agents to block the IL-2 pathways. However, such strategies could adversely affect the...
Objective: To evaluate the predictive value of genetic polymorphisms in the context of BCG immunotherapy outcome and create a predictive profile that may allow discriminating the risk of recurrence. Material and Methods: In a dataset of 204 patients treated with BCG, we evaluate 42 genetic polymorphisms in 38 genes involved in the BCG mechanism of action, using Sequenom MassARRAY technology. St...
Type 1 diabetes (T1D) is an autoimmune disease that has strong contribution of genetic factors to its etiology. We aimed to assess the genetic association between non-HLA genes and T1D in a Chinese case-control cohort recruited from multiple centers consisting of 364 patients with T1D and 719 unrelated healthy children. We genotyped 55 single nucleotide polymorphisms (SNP) markers located in 16...
Methods Demographic and disease features were collected as part of CAPS at first presentation to paediatric rheumatology, 6 months, and then yearly for 3 years. SNPs were genotyped on a Sequenom MassARRAY platform. Two analyses were performed to compare the effects of the SNPs on disease severity at presentation to paediatric rheumatology clinics and then the effects over the first 3 years of J...
The purpose of the present study is to explore the progression of type 1 diabetes (T1D) in Danish children 12 months after diagnosis using Latent Factor Modelling. We include three data blocks of dynamic paraclinical biomarkers, baseline clinical characteristics and genetic profiles of diabetes related SNPs in the analyses. This method identified a model explaining 21.6% of the total variation ...
Multiple Sclerosis (MS) is the most common progressive and disabling neurological condition affecting young adults in the world today. From a genetic point of view, MS is a complex disorder resulting from the combination of genetic and non-genetic factors. We aimed to identify previously unidentified loci conducting a new GWAS of Multiple Sclerosis (MS) in a sample of 296 MS cases and 801 contr...
There has been much progress in the identification of genes and molecular pathways involved in the pathogenesis of type 1 diabetes. Human histocompatibility (HLA) complex genes are the most powerful susceptibility determinants. The stronger effect is from alleles coding for selected HLA class I and class II antigen-presenting molecules, which are restricting elements for autoreactive CD8 and CD...
BACKGROUND Clinical trials in ulcerative colitis (UC) rely on certain parameters to evaluate responses that are highly subjective or of low sensitivity. Here, using a select group of genes, we tested the accuracy of gene expression analysis as a biomarker of clinical, endoscopic, and histologic improvements. METHODS Intestinal biopsies were obtained from UC patients included in two cohorts. C...
This study was conducted to determine whether single nucleotide polymorphisms (SNPs) in nine genes (human leukocyte antigen (HLA), T cell receptor beta (TCA receptor β), tumor necrosis factor α (TNF α), tumor necrosis factor β (TNF β), apolipoprotein E (APOE), interleukin 7 receptor alpha chain (IL7RA) interleukin 2 receptor alpha chain (IL2RA) myelin basic protein (MBP) and vitamin D receptor ...
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