在有多个先天免疫错误病例的家庭中,临床异质性
Samaneh Delavari1, Seyed Erfan Rasouli1, Saba Fekrvand1
1Research Center for Primary Immunodeficiencies, Pediatrics Center of Excellence, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran; Primary Immunodeficiency Diseases Network (PIDNet), Universal Scientific Education and Research Network (USERN), Tehran, Iran.
Clinical immunology (Orlando, Fla.)
|January 6, 2024
概括
诊断出第一个患有天生的免疫错误 (IEI) 的孩子,可以改善后续受影响儿童的结果. 环境因素和遗传评估对于管理IEI变异性至关重要.
科学领域:
- 免疫学 免疫学 免疫学
- 遗传学 遗传学 是一个
- 儿科 儿科 儿科
背景情况:
- 免疫的先天性错误 (IEI) 是影响免疫系统的多种遗传疾病.
- 疾病表达和透存在显著的变异,即使具有相同的突变.
研究的目的:
- 调查免疫的先天性错误的家族内变异性.
- 为了比较IEI患者在家庭中的临床,实验室和遗传特征.
主要方法:
- 分析来自国家IEI注册表的数据.
- 来自193个家庭的451名患者的临床,实验室和遗传数据的比较,其中包括多个IEI病例.
主要成果:
- 初诊断儿童的早期诊断改善了随后受影响的兄弟姐妹的结果.
- 在STK4,DNMT3B和ATM缺陷中观察到的临床特征的最高不一致.
- 免疫异质性在IEI类型之间有所不同,综合征性CID显示CD3 +,CD4 +,CD19 +,IgM和IgA水平的高不一致,SCID显示IgG水平的高不一致.
结论:
- 家庭内部的异质性突出了环境因素和遗传评估以及基因突变的作用.
- 对所有家庭成员进行基因查对于早期诊断和改善IEI管理至关重要.
- 及时诊断和治疗,考虑所有影响因素,可以提高患者的生活质量和生存率.
相关概念视频
Immunodeficiency Diseases
941
Immunodeficiency disorders are conditions in which the immune system's ability to fight infectious disease and cancer is compromised or entirely absent. The immune system comprises a complex network of cells, tissues, and organs that work together to protect the body from potentially harmful invaders. When this system is deficient or not functioning properly, it leaves the body susceptible to infections, diseases, or other complications.
There are three main causes of immunodeficiency...
There are three main causes of immunodeficiency...
941
Multiple Allele Traits
34.2K
The Concept of Multiple Allelism
34.2K
Pedigree Analysis
84.3K
Overview
84.3K
Genetic Variation
288
Genetic variation is the diversity in DNA sequences found among individuals of the same species. This diversity is crucial for a species' survival because it helps organisms adapt to environmental changes. Genetic variation begins with fertilization, where an egg and sperm cell merge. Each of these cells carries 23 chromosomes, up to 46 in the fertilized egg. Chromosomes are long DNA strands that contain genes, the basic units of heredity.
Genes exist in different versions called alleles,...
Genes exist in different versions called alleles,...
288
Autoimmune Disorders
443
Autoimmune diseases are a group of disorders in which the body's immune system mistakenly attacks its own cells, tissues, and organs. This results from an overactive immune response against substances and tissues normally present in the body. Let's delve into the concept and mechanism of autoimmune diseases from an immune system point of view, explore different causes and examples of such diseases, and discuss potential solutions.
Concept and Mechanism of Autoimmune Diseases
The immune...
Concept and Mechanism of Autoimmune Diseases
The immune...
443
Sex-linked Disorders
102.2K
Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.
102.2K


