APDS与IEI诊断及治疗未来方向：德国IEI中心调查数据集1

数据集获取（Figshare）

• 源站标题：DataSheet_1_Future Directions in the Diagnosis and Treatment of APDS and IEI: a Survey of German IEI Centers.docx
• DOI：10.3389/fimmu.2023.1279652.s001
• 发布日期：2023-10-05
• 文件数：1 个
• 文件总体积：31.34 KB
• 源站页面：https://frontiersin.figshare.com/articles/dataset/DataSheet_1_Future_Directions_in_the_Diagnosis_and_Treatment_of_APDS_and_IEI_a_Survey_of_German_IEI_Centers_docx/24249214

命令行下载

curl -L -o "DataSheet_1_Future Directions in the Diagnosis and Treatment of APDS and IEI: a Survey of German IEI Centers.docx" "https://ndownloader.figshare.com/files/42568354"

文件清单

• DataSheet_1_Future Directions in the Diagnosis and Treatment of APDS and IEI: a Survey of German IEI Centers.docx（31.34 KB）

文件总体积 31.34 KB（源站 API 实测）。

数据加载示例（图像类）

from PIL import Image
import glob, os

files = (glob.glob(os.path.join(path, "**", "*.png"), recursive=True)
       + glob.glob(os.path.join(path, "**", "*.jpg"), recursive=True)
       + glob.glob(os.path.join(path, "**", "*.tif"), recursive=True))
print("图像文件数:", len(files))
img = Image.open(files[0]); print("尺寸/模式:", img.size, img.mode)

# torchvision Dataset 方式:
# from torchvision import datasets
# ds = datasets.ImageFolder(path)  # 要求 子目录=类别

目录组织与标注格式以源站说明和下载后实际文件为准。

数据说明

IntroductionThe diagnosis and treatment of inborn errors of immunity (IEI) is a major challenge as the individual conditions are rare and often characterized by a variety of symptoms, which are often non disease-specific. Ideally, patients are treated in dedicated centers by physicians who specialize in the management of primary immune disorders. In this study, we used the example of Activated PI3Kδ syndrome (APDS), a rare IEI with an estimated prevalence of 1:1,000,000. We conducted surveys by questionnaire and interviewed physicians at different IEI centers in Germany.
MethodsWe queried structural aspects of IEI care in Germany, diagnostic procedures in IEI care (including molecular diagnostics), distribution of APDS patients, APDS symptoms and severity, treatment algorithms in APDS, the role of stem cell transplantation and targeted therapies in IEI with focus on APDS. We were especially interested in how genetic diagnostics may influence treatment decisions, e.g. with regard to targeted therapies.
Results/discussionMost centers care for both pediatric and adult patients. A total of 28 APDS patients are currently being treated at the centers we surveyed. Patient journeys vary considerably, as does severity of disease. Genetic diagnosis continues to gain importance - whole genome sequencing is likely to become routine in IEI in the next few years. According to the experts interviewed, stem cell transplantation and - with new molecules being approved - targeted therapies, will gain in importance for the treatment of APDS and IEI in general.

许可

CC BY 4.0

引用

学术使用请引用 DOI 10.3389/fimmu.2023.1279652.s001（source: https://frontiersin.figshare.com/articles/dataset/DataSheet_1_Future_Directions_in_the_Diagnosis_and_Treatment_of_APDS_and_IEI_a_Survey_of_German_IEI_Centers_docx/24249214）。