慢性粘膜皮肤候群病在人类与先天性错误的介质素-17免疫力
Anne Puel1, Sophie Cypowyj, Jacinta Bustamante
1Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale, U980, and University Paris Descartes, Necker Medical School, 75015 Paris, France. anne.puel@inserm.fr
概括
介素-17受体A (IL-17RA) 和介素-17F (IL-17F) 的两个遗传缺陷导致慢性粘膜皮肤候群病 (CMCD). 这些发现凸显了IL-17信号在对Candida albicans免疫力中的关键作用.
科学领域:
- 免疫学 免疫学 免疫学
- 遗传学 是一个遗传学.
- 皮肤病学 皮肤病学
背景情况:
- 慢性粘膜皮质候群病 (CMCD) 涉及皮肤,指甲和粘膜的持续感染,由Candida albicans.
- 患有CMCD的患者通常缺乏其他传染性或自身免疫性疾病.
研究的目的:
- 为了确定CMCD的遗传原因.
- 阐明介质素-17 (IL-17) 途径在粘膜皮肤免疫中的作用.
主要方法:
- 两名患有明显遗传缺陷的患者的案例研究.
- 对互白素-17受体A (IL-17RA) 自体递归缺陷的分析.
- 对17F介质素 (IL-17F) 自体主导缺乏症的分析.
主要成果:
- 缺少IL-17RA完全消除了细胞对IL-17A和IL-17F的反应.
- 缺少IL-17F导致IL-17活性部分受损.
- 这两个缺陷都导致了对Candida albicans感染的易感性.
结论:
- 人类IL-17A和IL-17F对于对抗Candida albicans的粘膜皮肤防御至关重要.
- IL-17RA和IL-17F缺陷代表了CMCD的不同的遗传病因.
- 在粘膜皮肤免疫中,IL-17A和IL-17F在很大程度上表现出冗余的功能.
相关概念视频
Candidiasis
Candidiasis is a fungal infection caused by opportunistic species of Candida. It can affect various anatomical sites, including the skin, oral cavity, nails, and genitourinary tract. Among its forms, vaginal candidiasis is the most common type of mucosal infection. It typically results from the overgrowth of Candida albicans in the vaginal mucosa. Under normal conditions, C. albicans exists as a commensal organism within the vaginal microbiota, regulated by the dominance of lactobacilli, which...
Immunodeficiency Diseases
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 disorders...
There are three main causes of immunodeficiency disorders...
Inflammatory Bowel Disease III: Crohn's Disease
Crohn’s disease is a chronic, relapsing form of inflammatory bowel disease characterized by segmental, transmural inflammation that can affect any part of the gastrointestinal tract. Its pathogenesis arises from a combination of genetic susceptibility, environmental exposures, epithelial barrier dysfunction, and immune dysregulation. Together, these factors lead to an exaggerated immune response against components of the gut microbiome.Genetic and Environmental InfluencesMultiple genetic...
Cryptococcal Meningitis
Cryptococcal meningitis is a life-threatening opportunistic infection predominantly associated with HIV/AIDS, accounting for over 100,000 deaths annually worldwide. However, it also affects individuals with other forms of immunosuppression, including those undergoing immunosuppressive therapy, organ transplant recipients, patients with innate immunodeficiencies, and individuals with hematological disorders. The infection is caused mainly by Cryptococcus neoformans and Cryptococcus gattii,...
T Cell Types and Functions
When T cells with CD4 markers are activated, they give rise to two types of effector cells: helper T cells and regulatory T cells. Meanwhile, T cells with CD8 markers differentiate into effector cytotoxic T cells. The differentiation of CD4 T cells into helper T cell subsets, such as Th1, Th2, and Th17 cells, is dependent on the antigen type, antigen-presenting cell, and regulatory cytokines.
Th1 cells stimulate dendritic cells to express necessary co-stimulatory molecules on their surfaces for...
Th1 cells stimulate dendritic cells to express necessary co-stimulatory molecules on their surfaces for...
Cytomegalovirus Disease
Cytomegalovirus (CMV) disease is caused by human cytomegalovirus, a double-stranded DNA virus of the Herpesviridae family. While primary CMV infection is often asymptomatic in immunocompetent individuals, the virus can cause severe disease in neonates and immunocompromised patients. CMV is the most common cause of congenital viral infection in the United States, and a major pathogen in solid organ and hematopoietic stem cell transplant recipients.CMV is transmitted via bodily fluids, sexual...

