Complement 4 deficiency

Complement 4 deficiency is a rare genetic disorder characterized by a lack of, or low levels of, the protein known as complement 4 (C4). This protein plays a crucial role in the immune system, helping to fight off infections and remove damaged cells.

Overview

Complement 4 is part of the complement system, a group of proteins that work together to support the immune system. When the body is invaded by foreign substances such as bacteria or viruses, the complement system is activated to help destroy these invaders. Complement 4 is a key player in this process, helping to mark the invaders for destruction by other immune cells.

Causes

Complement 4 deficiency is caused by mutations in the C4A and C4B genes. These genes provide instructions for making the two forms of complement 4, known as C4A and C4B. Mutations in these genes can lead to reduced levels of the C4 protein, impairing the body's ability to effectively fight off infections.

Symptoms

The symptoms of complement 4 deficiency can vary widely, depending on the severity of the deficiency and the individual's overall health. Some people with this condition may experience frequent infections, while others may have autoimmune disorders such as lupus or rheumatoid arthritis. In some cases, the deficiency may not cause any noticeable symptoms.

Diagnosis

Diagnosis of complement 4 deficiency typically involves blood tests to measure the levels of complement proteins in the body. Genetic testing may also be performed to identify mutations in the C4A and C4B genes.

Treatment

There is currently no cure for complement 4 deficiency. Treatment is typically focused on managing the symptoms and preventing infections. This may involve the use of antibiotics, immunoglobulin therapy, or other treatments as needed.

See also

• Complement system
• Immune system
• Genetic disorder
• Autoimmune disease

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