相关实验视频
Updated: Jul 24, 2025

A Patient-Derived Xenograft Model for Venous Malformation
Published on: June 15, 2020
一个VEXAS综合征的病例呈现出不寻常的骨髓颗粒瘤:一个诊断困境
Khiem T Vu1, Rachel M Wolfe2, Jonathan E Lambird2
1Atrium Health Wake Forest Baptist Medical Center, Winston-Salem, NC, 27157, USA. ktvu90@gmail.com.
这项研究报告了第一例VEXAS综合征的病例,该病例在骨髓中呈现出非化颗粒瘤. 这一发现凸显了VEXAS患者的诊断挑战和误解的可能性.
科学领域:
- 免疫学 免疫学 免疫学
- 遗传学 是一个遗传学.
- 类风湿病学 类风湿病学
背景情况:
- 维克萨斯 (VEXAS) 综合征 (真空,E1酶,X链接,自身炎症,体质) 是最近发现的一种自身炎症性疾病.
- 它是由UBA1基因的体质突变引起的,导致各种系统性炎症症状.
- 标志性特征包括骨髓原始体中的细胞质内含,但通常不描述非化颗粒瘤.
研究的目的:
- 报告第一个记录的VEXAS综合征病例,其中骨髓中非化颗粒瘤.
- 讨论由于这种不寻常的呈现而导致的诊断影响和误诊的可能性.
主要方法:
- 一个62岁男性的病例介绍,他有复杂的炎症病史.
- 诊断工作包括骨髓活检,揭示非化粒瘤和PET扫描.
- 分子测试证实了疑似IgG4相关疾病和肉类瘤的治疗失败后的VEXAS综合征.
主要成果:
- 患者出现了发烧,结节性红血,炎症性关节炎和周围轨道炎症.
- 骨髓活检显示了非化颗粒瘤,导致最初的错误诊断.
- 在对rituximab和infliximab的治疗耐药性后,VEXAS综合征在分子上得到证实.
结论:
- 这是第一份关于VEXAS综合征中非化颗粒瘤的报告.
- 颗粒瘤的存在可能导致诊断延迟和误解.
- 应考虑在对类固醇有反应但不抑制B细胞或TNF的慢性炎症的患者中使用VEXAS.
更多相关视频
11:06Combining Intravital Fluorescent Microscopy IVFM with Genetic Models to Study Engraftment Dynamics of Hematopoietic Cells to Bone Marrow Niches
Published on: March 21, 2017
12:58Expression of Exogenous Cytokine in Patient-derived Xenografts via Injection with a Cytokine-transduced Stromal Cell Line
Published on: May 10, 2017
相关概念视频
Bone Marrow Sampling and Transplants
The transplant begins with high doses of chemotherapy and radiation treatment, which aim to destroy...
Disorders of Leukocytes
Leukopenia may result from bone marrow disorders, autoimmune diseases, and infectious diseases. For example, conditions such as multiple myeloma and aplastic anemia can impair the bone marrow's ability to produce adequate leukocytes. Similarly, autoimmune diseases like lupus and viral infections such as HIV can prompt the immune...
Bone Disorders
Bone deposition is also affected by the levels of sex hormones like estrogen and testosterone that promote osteoblast activity and bone matrix synthesis. When the level of these hormones decreases due to aging, it causes a reduction in bone deposition. As a result, bone resorption by osteoclasts...
Secondary Lymphoid Organs
The spleen is a vital organ in the lymphatic system, nestled in the upper left side of the abdomen. It is composed of two primary regions: the red pulp and the white pulp, each having distinct functions. The red pulp performs a significant role in blood filtration. It efficiently purges the blood of old or damaged red blood cells and...
Primary Lymphoid Organs
The red bone marrow is a soft, spongy tissue nestled in the interior of long bones such as the humerus and femur. It is the site...
Differentiation of Common Myeloid Progenitor Cells