In contrast, when the ZNF341 gene is involved, both copies of the gene are altered (which is known as autosomal recessive inheritance).
When the STAT3 gene is involved, one altered copy of the gene is sufficient to cause the disorder (which is known as autosomal dominant inheritance). Mutations in the ZNF341 gene cause a disorder similar to AD-HIES but with a different pattern of inheritance. It is unclear how STAT3 gene mutations lead to increased IgE levels. The STAT3 protein is also involved in the formation of cells that build and break down bone tissue, which could help explain why STAT3 gene mutations lead to the skeletal and dental abnormalities characteristic of this condition. The resulting immune system abnormalities make people with AD-HIES highly susceptible to infections, particularly bacterial and fungal infections of the lungs and skin. A shortage of functional STAT3 blocks the maturation of T cells (specifically a subset known as Th17 cells) and other immune cells. T cells and other immune system cells help control the body's response to foreign invaders such as bacteria and fungi.Ĭhanges in the STAT3 gene alter the structure and function of the STAT3 protein, impairing its ability to control the activity of other genes. In the immune system, the STAT3 protein regulates genes that are involved in the maturation of immune system cells, especially certain types of T cells. To carry out its roles, the STAT3 protein attaches to DNA and helps control the activity of particular genes. This gene provides instructions for making a protein that plays important roles in several body systems. Mutations in the STAT3 gene cause most cases of AD-HIES. Other signs and symptoms of AD-HIES can include abnormalities of the arteries that supply blood to the heart muscle ( coronary arteries ), distinctive facial features, and structural abnormalities of the brain, which do not affect a person's intelligence. A common dental abnormality in this condition is that the primary (baby) teeth do not fall out at the usual time during childhood but are retained as the adult teeth grow in. Many people with AD-HIES have skeletal abnormalities such as an unusually large range of joint movement ( hyperextensibility ), an abnormal curvature of the spine ( scoliosis ), reduced bone density (osteopenia), and a tendency for bones to fracture easily. However, IgE is not needed for these roles in people with AD-HIES, and it is unclear why affected individuals have such high levels of the protein without having allergies.ĪD-HIES also affects other parts of the body, including the bones and teeth. IgE normally triggers an immune response against foreign invaders in the body, particularly parasitic worms, and is involved in allergies.
Hyper synonym skin#
These skin problems cause rashes, blisters, accumulations of pus (abscesses), open sores, and scaling.įor unknown reasons, people with AD-HIES have abnormally high levels of an immune system protein called immunoglobulin E (IgE) in the blood. Frequent skin infections and an inflammatory skin disorder called eczema are also very common in AD-HIES.
Recurring pneumonia often results in the formation of air-filled cysts (pneumatoceles) in the lungs. However, excessive inflammation can damage body tissues. Inflammation is a normal immune system response to injury and foreign invaders (such as bacteria). Affected individuals tend to have frequent bouts of pneumonia, which are caused by certain kinds of bacteria that infect the lungs and cause inflammation.
Recurrent infections are common in people with this condition. Autosomal dominant hyper-IgE syndrome (AD-HIES), formerly known as Job syndrome, is a condition that affects several body systems, particularly the immune system.
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