遗传性alpha-tryptasemia在所有巨细胞瘤亚型中的高患病率的病理生理学影响
Laura Polivka1, Marine Madrange2, Cristina Bulai-Livideanu3
1Department of Dermatology, Reference Center for Genodermatoses (MAGEC), AP-HP, Necker-Children's Hospital, Paris Centre University, Paris, France; CEREMAST, the Imagine Institute, INSERM U1163, AP-HP, Necker-Children's Hospital, Paris Centre University, Paris, France.
The Journal of allergy and clinical immunology
|August 26, 2023
概括
遗传性alpha-tryptasemia (HαT) 在巨细胞瘤和单克隆巨细胞激活综合征 (MMAS) 患者中更为常见. HαT与巨细胞瘤中过敏反应风险增加有关.
科学领域:
- 血液学 血液学 血液学
- 遗传学 是一个遗传学.
- 免疫学 免疫学 免疫学
背景情况:
- 乳腺细胞和单克隆乳腺细胞激活综合征 (MMAS) 的特征是异常乳腺细胞积累.
- 乳腺细胞瘤和MMAS的确切原因仍然不清楚,尽管经常发生KIT突变.
- 由于TPSAB1基因复制,遗传性α-tryptasemia (HαT) 在这些疾病中经常被发现,但其因果作用尚不清楚.
研究的目的:
- 为了确定HαT在巨细胞瘤和MMAS中的患病率.
- 为了研究HαT和巨细胞瘤亚型之间的病理生理学关联.
主要方法:
- 从583名患有巨细胞瘤或MMAS的患者的临床和实验室数据的回顾性分析.
- 使用滴滴数字PCR评估TPSAB1重复和HαT患病率.
- 与对照群进行比较,并对先进的全身性巨细胞瘤 (advSM) 进行聚合分析.
主要成果:
- 在乳腺细胞瘤中,HαT的发病率为12.6%,在MMAS中为33.3%,明显高于一般人群 (5.7%).
- 与HαT阴性患者相比,HαT阳性巨细胞瘤患者出现了更多的过敏反应 (43.0%) 和较少的皮肤病变 (57.7%).
- 晚期系统性巨细胞瘤 (11.5%) 的HαT患病率高于对照组 (5.2%).
结论:
- 该研究证实,HαT阳性巨细胞瘤患者的过敏反应发病率较高.
- 在所有乳腺细胞瘤亚型中增加HαT的患病率表明了潜在的病理生理学作用.
相关概念视频
Antiasthma Drugs: Mast Cell Stabilizers and Anti-IgE Drugs
342
Asthma is a chronic respiratory condition for which new therapeutic avenues, including anti-inflammatory drugs like mast cell stabilizers and anti-IgE treatments, continue to be developed.
Mast cell stabilizers, such as cromolyn (also known as sodium cromoglycate) and nedocromil (Tilade), are effective drugs in asthma management. These stabilizers hinder histamine release by skillfully obstructing the activation of mast cells and other cellular entities. Notably, they navigate this task without...
Mast cell stabilizers, such as cromolyn (also known as sodium cromoglycate) and nedocromil (Tilade), are effective drugs in asthma management. These stabilizers hinder histamine release by skillfully obstructing the activation of mast cells and other cellular entities. Notably, they navigate this task without...
342
Asthma: Pathogenesis and Management
442
Asthma is a chronic pulmonary condition involving inflammation of the airways, hyper-reactivity, and reversible obstruction of the airways. This condition can significantly impact a person's quality of life, making breathing difficult and leading to distressing symptoms.
Asthma is classified as allergic and non-allergic. Allergens such as dust mites, pollen, and pet dander trigger allergic asthma, while factors like cold air, intense emotions, or exercise can induce non-allergic asthma.
Asthma is classified as allergic and non-allergic. Allergens such as dust mites, pollen, and pet dander trigger allergic asthma, while factors like cold air, intense emotions, or exercise can induce non-allergic asthma.
442
Asthma-II: Pathophysiology and Classification
2.7K
Asthma is a prevalent chronic respiratory condition marked by inflammation and hyperresponsiveness of the airways. Its pathophysiology involves complex interactions among inflammatory pathways, immune responses, and neural mechanisms.
Additionally, environmental and genetic factors play crucial roles in determining an individual's susceptibility to asthma and the severity of their condition.
Critical processes in asthma pathophysiology include:
Additionally, environmental and genetic factors play crucial roles in determining an individual's susceptibility to asthma and the severity of their condition.
Critical processes in asthma pathophysiology include:
2.7K
Enzyme-linked Receptors
78.7K
Enzyme-linked receptors are proteins that act as both receptor and enzyme, activating multiple intracellular signals. This is a large group of receptors that include the receptor tyrosine kinase (RTK) family. Many growth factors and hormones bind to and activate the RTKs.
Neurotrophin (NT) receptors are a family of RTKs, including trkA, trkB, and trkC (tropomyosin-related kinase) receptors. TrkA is specific for nerve growth factor (NGF), neurotrophin-6, and neurotrophin-7. TrkB binds...
Neurotrophin (NT) receptors are a family of RTKs, including trkA, trkB, and trkC (tropomyosin-related kinase) receptors. TrkA is specific for nerve growth factor (NGF), neurotrophin-6, and neurotrophin-7. TrkB binds...
78.7K
Multiple Allele Traits
34.3K
The Concept of Multiple Allelism
34.3K
Cardiomyopathy III: Hypertrophic Cardiomyopathy
16
Hypertrophic cardiomyopathy, or HCM, is an autosomal dominant genetic disorder characterized by asymmetric left ventricular hypertrophy without ventricular dilation. It is more common in men and is typically diagnosed in young, athletic adults.EtiologyHCM is primarily genetic and is caused by mutations in genes encoding sarcomeric proteins. Researchers have identified over 1400 mutations across at least 11 different genes. Among these, the most frequently occurring mutations are found in the...
16


