相关实验视频
Updated: Jan 16, 2026
12:31
In Vivo Modeling of the Morbid Human Genome using Danio rerio
Published on: August 24, 2013
21.2K
同胞性功能丧失多个兄弟姐妹中的PIK3CD突变导致B细胞失调和自身免疫
Huda Alajlan1, Amer Al-Mazrou2, Hibah Alruwaili1
1Department of Translational Genomics, Genomic Medicine Centre of Excellence, King Faisal Specialist Hospital and Research Centre, Riyadh, MBC-03 PO BOX 3354, 11211, Saudi Arabia.
Journal of clinical immunology
|September 30, 2025
概括
在PIK3CD的新型突变导致免疫缺陷与慢性腹和感染. 这种功能丧失会损害B细胞增殖和类交换重组,扩大已知的PIK3CD相关疾病.
科学领域:
- 免疫学 免疫学 免疫学
- 分子生物学分子生物学
- 遗传学 遗传学 是一个
背景情况:
- 酸丁3-酶 (PI3Ks) 调节关键细胞过程,包括生长,新陈代谢和迁移.
- 编码免疫特异性PI3K亚单元的PIK3CD中的突变导致人体免疫缺陷,即主导激活或衰退性功能丧失.
- 了解PIK3CD的功能对于诊断和治疗一次性免疫缺陷至关重要.
研究的目的:
- 在一个免疫缺陷家族中发现的PIK3CD中的一种新型双基,截断突变的特征.
- 研究这种PIK3CD功能丧失突变对免疫细胞,特别是B细胞的分子和细胞后果.
- 为了解PIK3CD相关的免疫疾病及其临床谱系做出贡献.
主要方法:
- 基因分析以确定受影响个体的突变.
- 免疫血清测试以评估PIK3CD蛋白表达及其调节子单元.
- 免疫表型和体外功能测定 (增殖,类交换重组) 在B细胞上.
主要成果:
- 在三个患有慢性腹和复发性鼻肺感染的兄弟姐妹中发现了一种新的双基,截断PIK3CD突变.
- 确认了PIK3CD蛋白表达的丧失和降低的p85α调节子单元.
- 观察到B细胞失调,包括增加原始B细胞,增殖受损,以及在体外减少类交换重组.
- 与小鼠模型相比,证明了B细胞响应的潜在差异.
结论:
- 这项研究确定了由于PIK3CD功能丧失导致的衰退性免疫缺陷的新原因.
- 这些发现凸显了PIK3CD在人类B细胞发育和功能中的关键作用.
- 这些结果扩大了已知的PIK3CD相关疾病的范围,并表明PI3K在人类免疫中的信号传递具有更广泛的影响.
相关概念视频
01:35Pedigree Analysis
88.8K
Overview
88.8K
02:30Genomic Imprinting and Inheritance
36.8K
Diploid organisms inherit genetic material through chromosomes from both parents. Copies of the same gene are known as alleles. In most cases, both alleles are simultaneously expressed and allow various cellular processes to function optimally. If one of the alleles is missing or mutated, the expression of the other allele can compensate; however, this is not true for all genes.
The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as...
The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as...
36.8K
02:41Lethal Alleles
17.7K
Agouti: A Lethal Allele
Lucien Cuénot discovered lethal alleles in 1905 while studying the inheritance of coat color in mice. The agouti gene is responsible for the color of the coat in mice. This gene codes for an agouti-signaling protein, which is responsible for melanin distribution in mammals. The wild-type allele gives rise to gray-brown coat color in mice, while the mutant allele gives rise to yellow coat color. In addition to coat color, the agouti gene is associated with the yellow...
Lucien Cuénot discovered lethal alleles in 1905 while studying the inheritance of coat color in mice. The agouti gene is responsible for the color of the coat in mice. This gene codes for an agouti-signaling protein, which is responsible for melanin distribution in mammals. The wild-type allele gives rise to gray-brown coat color in mice, while the mutant allele gives rise to yellow coat color. In addition to coat color, the agouti gene is associated with the yellow...
17.7K
01:49Multiple Allele Traits
38.0K
The Concept of Multiple Allelism
38.0K
01:33Pleiotropy
43.2K
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,...
43.2K
02:57piRNA - Piwi-interacting RNAs
7.5K
PIWI-interacting RNAs, or piRNAs, are the most abundant short non-coding RNAs. More than 20,000 genes have been found in humans that code for piRNAs while only 2000 genes have been found for miRNAs. piRNAs can act at the transcriptional and post-transcriptional levels and have a vital role in silencing transposable elements present in germ cells. They are also involved in epigenetic silencing and activation. Previously, they were thought to function only in germ cells but new evidence suggests...
7.5K