内脏莱什曼病揭示了未被诊断的免疫的先天错误
Daniel Gleison Carvalho1, Dewton de Moraes Vasconcelos2, Andreia Cristiane Rangel Santos3
1Instituto de Infectologia Emílio Ribas, São Paulo, Brasil.
Revista da Sociedade Brasileira de Medicina Tropical
|November 16, 2023
概括
内脏莱什曼病 (VL) 可能表明免疫的罕见先天性错误,如GATA2和RAB27A缺乏. 建议对VL患者进行初级免疫缺陷查,特别是那些患有复发性疾病的患者.
科学领域:
- 免疫学 免疫学 免疫学
- 传染性疾病 传染性疾病
- 遗传学 遗传学 是一个
背景情况:
- 内脏莱什曼病 (VL) 是一种严重的,可能致命的寄生虫病.
- 脊髓炎通常与免疫系统受损有关,包括原发性和获得性免疫缺陷.
- 免疫的先天性错误 (IEI) 很少被报告为VL的原因.
相关概念视频
Immunodeficiency Diseases
948
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...
948
Inborn Errors of Metabolism
165
Phenylketonuria (PKU) is a protein metabolism disorder characterized by high blood levels of the amino acid phenylalanine. This results from a mutation in the gene responsible for phenylalanine hydroxylase, an enzyme that converts phenylalanine into tyrosine. When this enzyme is deficient, phenylalanine builds up in the blood, leading to symptoms such as vomiting, rashes, seizures, growth deficiency, and severe mental retardation. An early diagnosis and a diet restricting phenylalanine intake...
165


