一个埃及患者的新型MALT1变异呈现脱皮性皮肤炎:基于病例的综述
Rabab El Hawary1, Safa Meshaal2, Sohilla Lotfy3
1Department of Clinical and Chemical Pathology, Faculty of Medicine, Cairo University, Cairo, 11562, Egypt. rabab.elhawary@kasralainy.edu.eg.
Immunologic research
|July 17, 2024
概括
在CARD11-BCL10-MALT1 (CBM) 信号基因突变导致严重的综合免疫缺陷 (SCID). 这项研究详细介绍了一名患有新型MALT1基因突变的埃及患者,强调了早期遗传诊断对有效管理的重要性.
科学领域:
- 免疫学 免疫学 免疫学
- 遗传学 是一个遗传学.
- 分子生物学分子生物学
背景情况:
- CARD11-BCL10-MALT1 (CBM) 信号体的先天性错误与严重的联合免疫缺陷 (SCID) 和联合免疫缺陷 (CID) 有关.
- 这些疾病呈现出不同的临床和免疫学表型,包括复发性感染,皮肤炎和肠病.
研究的目的:
- 描述一名患有MALT1基因突变的埃及患者的临床和免疫特征.
- 强调分子诊断对于识别和管理免疫缺陷-12 (IMD12) 的重要性.
主要方法:
- 对患者的临床和免疫学评估.
- 流细胞计分析淋巴细胞子集和DOCK8表达.
- 下一代测序用于识别MALT1基因中的遗传变异.
主要成果:
- 患者出现了湿疹,牙磨损,腹和肺炎.
- 观察到血清IgE升高,淋巴细胞子集正常,B细胞成熟停止.
- 发现了一种新型同卵性MALT1基因变异 (c.762dup),证实了IMD12的诊断.
结论:
- MALT1基因突变是IMD12的原因,出现与DOCK8缺陷重叠的症状.
- 早期的分子诊断对于及时干预至关重要,例如造血干细胞移植 (HSCT),以改善患者的治疗结果.
相关概念视频
Skin Diseases and Disorders
5.4K
Skin is the first line of defense and encounters a variety of microbes. Some pathogenic strains are often the cause of a broad range of infections of the skin and other body systems. These conditions can affect people of all ages and may have different causes, including genetic factors, infections, autoimmune reactions, environmental factors, and lifestyle choices.
Gram-positive Staphylococcus spp. and Streptococcus spp. are responsible for many of the most common skin infections. However, many...
Gram-positive Staphylococcus spp. and Streptococcus spp. are responsible for many of the most common skin infections. However, many...
5.4K
Skin Cancer
5.2K
Skin cancer is a type of cancer that occurs when there is an abnormal growth of skin cells, usually triggered by damage to the DNA within the skin cells. It is primarily caused by exposure to ultraviolet (UV) radiation from the sun or artificial sources like tanning beds. Skin cancer is the most common type of cancer worldwide, and its incidence continues to rise.
Basal Cell Carcinoma (BCC): BCC is the most common type of skin cancer, accounting for about 80% of cases. It typically develops in...
Basal Cell Carcinoma (BCC): BCC is the most common type of skin cancer, accounting for about 80% of cases. It typically develops in...
5.2K
Fungal Phylum Microsporidia
787
Microsporidia are a group of obligate intracellular fungi that were initially classified as protists but were later reclassified based on phylogenetic, molecular, and structural evidence linking them to the Chytridiomycota. These unicellular, non-motile organisms are highly specialized parasites that infect a wide range of animal hosts, including humans. They have evolved extensive genomic and metabolic reductions, making them highly dependent on their hosts for survival.Morphology and Genomic...
787
Staphylococcal Skin Infections
150
Staphylococcus aureus is a Gram-positive coccus that resides harmlessly on the skin and mucous membranes of healthy individuals. When the skin barrier is breached, it can shift from a commensal to an opportunistic pathogen. This transition is facilitated by surface adhesins, such as clumping factor B and S. aureus surface protein G (SasG), which bind to structural proteins, including loricrin and cytokeratin, in the damaged epidermis. Protein A, another key factor, binds the Fc region of...
150


