儿童的多面综合症原发性免疫缺陷
Khuen Foong Ng1, Anu Goenka1,2, Florence Manyika1
1Department of Paediatric Immunology and Infectious Diseases, Bristol Royal Hospital for Children, Bristol BS1 3NU, UK.
Journal of clinical medicine
|August 12, 2023
概括
综合性原发性免疫缺陷 (sPIDs) 通常涉及多个器官系统,并且经常与遗传性疾病有关. 在患有综合征特征和复发性感染的儿童中,对免疫疾病的早期临床评估至关重要.
科学领域:
- 儿科免疫学 儿科免疫学
- 罕见的遗传疾病 罕见的遗传疾病
- 临床遗传学 临床遗传学
背景情况:
- 免疫疾病通常被忽视为罕见的遗传多系统性疾病.
- 综合性原发性免疫缺陷 (sPIDs) 是遗传和免疫系统功能障碍的复杂交叉.
研究的目的:
- 在被诊断为sPIDs的儿童中描述综合征特征和免疫缺陷.
- 改善在综合症状况下免疫缺陷的识别和诊断.
主要方法:
- 对患有sPID的儿科患者 (0-18岁) 的回顾性描述性研究.
- 2006年1月至2021年9月期间从专业儿科免疫学服务机构收集的数据.
主要成果:
- 确定了36名患有sPID的患者.
- 19%的患者有遗传诊断,通常与原发性免疫缺陷 (PID) 无关,包括三胞胎瘤22和努南综合征.
- 复发/严重感染 (92%) 是常见的,其中一半呈现出联合或抗体缺乏. 多器官参与是频繁的,影响神经,肌肉骨和胃肠道系统.
结论:
- sPIDs经常存在多器官参与,超出免疫表现.
- 对于具有综合征特征的儿童,特别是那些患有复发性感染或免疫失调迹象的儿童,建议对免疫评估设置较低的门.
更多相关视频
14:14Simultaneous Quantification of T-Cell Receptor Excision Circles TRECs and K-Deleting Recombination Excision Circles KRECs by Real-time PCR
Published on: December 6, 2014
16.7K
06:46A High-Throughput Multiplexed Screening for Type 1 Diabetes, Celiac Diseases, and COVID-19
Published on: July 5, 2022
2.8K
相关概念视频
Immunodeficiency Diseases
974
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...
974
Humoral Immune Responses
73.0K
Overview
73.0K
Primary Lymphoid Organs
1.6K
Primary lymphoid organs are pivotal in the formation, development, and maturation of lymphocytes, the white blood cells that serve as the backbone of our immune system. This crucial function underscores their fundamental role in maintaining our overall health and immunity. The two primary lymphoid organs of prime importance are the red bone marrow and the thymus.
The red bone marrow is a soft, spongy tissue nestled in the interior of long bones such as the humerus and femur. It is the site...
The red bone marrow is a soft, spongy tissue nestled in the interior of long bones such as the humerus and femur. It is the site...
1.6K
Secondary Lymphoid Organs
1.6K
Secondary organs, including lymph nodes, the spleen, and mucosa-associated lymphoid tissue (MALT), work harmoniously to protect us from disease and infection.
The spleen is a vital organ in the lymphatic system, nestled in the upper left side of the abdomen. It is composed of two primary regions: the red pulp and the white pulp, each having distinct functions. The red pulp performs a significant role in blood filtration. It efficiently purges the blood of old or damaged red blood cells and...
The spleen is a vital organ in the lymphatic system, nestled in the upper left side of the abdomen. It is composed of two primary regions: the red pulp and the white pulp, each having distinct functions. The red pulp performs a significant role in blood filtration. It efficiently purges the blood of old or damaged red blood cells and...
1.6K
What is the Immune System?
111.8K
Overview
111.8K
Special Features of Adaptive Immunity
874
The adaptive immune system, a crucial component of the overall immune response, offers a highly specialized defense against pathogens. It involves specific cell types and features, enabling it to combat infections effectively and efficiently.
The primary cell types involved in adaptive immunity are T cells and B cells. Each type has a unique role in defending the body against pathogens. T cells are responsible for cell-mediated immunity. They identify and eliminate infected cells directly,...
The primary cell types involved in adaptive immunity are T cells and B cells. Each type has a unique role in defending the body against pathogens. T cells are responsible for cell-mediated immunity. They identify and eliminate infected cells directly,...
874
