基因型-表型划分 儿科患者的自身免疫多胞体病变,候群病和外皮缩症:一个病例报告
Rima Hanna-Wakim1,2, Pascale E Karam3, Mazen Kurban4
1Division of Pediatric Infectious Diseases, Department of Pediatrics and Adolescent Medicine, American University of Beirut, Beirut 1107, Lebanon.
Genes
|February 27, 2026
概括
候群病和外皮发育不良 (APEC2D) 的自身免疫多发育不良是一种罕见的遗传性疾病. 在黎巴嫩儿科病人身上发现了一种新的AIRE基因突变,扩大了这种先天性免疫错误的已知范围.
科学领域:
- 遗传学 遗传学 是一个
- 免疫学 免疫学 免疫学
- 儿科 儿科 儿科
背景情况:
- 候群病和外皮发育不良 (APEC2D) 的自身免疫多发育不良是一种极其罕见的自身遗传性衰退性疾病.
- 它是由AIRE基因的功能丧失突变引起的,影响内分泌和非内分泌系统.
- 这种情况在全球范围内影响每百万人中约有10例,在血缘关系人口中患病率更高.
研究的目的:
- 描述黎巴嫩的一名儿科患者的新型AIRE基因突变.
- 扩大APEC2D的基因型和表型谱.
- 在一个以前未报告的病例中调查APEC2D的遗传基础.
主要方法:
- 一个9岁男孩出现黄和相关症状的病史的病例报告.
- 临床评估,包括实验室检查 (透视炎,胆固醇症,高血糖球蛋白症) 和腹部超声波.
- 整体外基因组测序以识别遗传变异.
主要成果:
- 外基因测序揭示了AIRE基因中的一种新型同卵性致病变体 (NM_000383.4:c.1066dup p.
- 这位患者呈现出一种表型,包括慢性粘膜皮肤候群病,牙质低成形和肝炎.
- 鉴定到的突变证实了APEC2D的诊断.
结论:
- 这个案例扩大了与APEC2D相关的已知基因型变异.
- 这项研究有助于了解这种罕见的免疫遗传错误的表型多样性.
- 突出了基因测序在诊断复杂的儿科免疫疾病的重要性.
相关概念视频
01:35Pedigree Analysis
90.2K
Overview
90.2K
01:21Smooth Endoplasmic Reticulum
8.4K
Smooth endoplasmic reticulum or smooth ER is a sub-organelle with specialized functions in animal cells and plant cells. It is often associated with the tubule morphology of the endoplasmic reticulum.
The ER provides optimal conditions for synthesizing steroid hormones and lipids, such as phospholipids and triglycerides. Traditionally, lipid metabolism was considered to be a smooth ER function. However, there is no direct evidence to prove that rough ER is completely excluded from lipid...
The ER provides optimal conditions for synthesizing steroid hormones and lipids, such as phospholipids and triglycerides. Traditionally, lipid metabolism was considered to be a smooth ER function. However, there is no direct evidence to prove that rough ER is completely excluded from lipid...
8.4K
01:33Pleiotropy
43.6K
Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
43.6K
01:23Skin Diseases and Disorders
5.9K
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...
5.9K