ITCH

Alfonso Hernández1,2,3, Carolina Cerda1,2,3, Ana María Vinet1,2

  • 1Pediatric Unit, Hospital Dr Hernán Henríquez Aravena, Temuco, Chile.

Pediatrics
|October 23, 2025
PubMed
概括

E3 乌比基因蛋白联酶 (ITCH) 缺乏症是一种罕见的遗传疾病,导致免疫问题和自身免疫. 这种病例突出了一个患有特定ITCH基因变异的患者,呈现出严重的发育,代谢和器官特异性问题.

相关概念视频

Immunodeficiency Diseases01:25

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...
1.9K
Skin Diseases and Disorders01:23

Skin Diseases and Disorders

Skin is the first line of defense and encounters a variety of microbes. Some pathogenic strains are often the cause of a broad range of infections of the skin and other body systems. These conditions can affect people of all ages and may have different causes, including genetic factors, infections, autoimmune reactions, environmental factors, and lifestyle choices.
Gram-positive Staphylococcus spp. and Streptococcus spp. are responsible for many of the most common skin infections. However, many...
5.1K
What is the Immune System?01:38

What is the Immune System?

Overview
126.5K
Pulmonary Tuberculosis I01:29

Pulmonary Tuberculosis I

Tuberculosis, often called TB, is a contagious illness primarily caused by Mycobacterium tuberculosis. It mainly affects the lung parenchyma but can also impact other body parts.
Causative Organism
The primary infectious agent causing tuberculosis is Mycobacterium tuberculosis, a slow-growing, acid-fast, aerobic rod that exhibits sensitivity to heat and ultraviolet light. Instances of Mycobacterium bovis and Mycobacterium avium contributing to the development of TB infection are rare.
Mode of...
822
Humoral Immune Responses01:36

Humoral Immune Responses

Overview
83.3K
Factors Affecting the Risk of Infection01:26

Factors Affecting the Risk of Infection

The hosts' susceptibility to infection depends on several factors. The integrity of the skin and mucous membranes helps protect the body against microbial attacks. When the skin is altered, the chance of infection, limb loss, and even death increases.
The integrity and count of the white blood cells help the body resist pathogens and fight infection. When impaired, it reduces the body's resistance to pathogens. The acidic pH levels of the gastrointestinal, genitourinary tracts, and skin...
13.2K