Complement 4 deficiency
Complement 4 deficiency (pronounced: kɒmplɪmɛnt fɔːr dɪfɪʃənsi) is a rare genetic disorder that affects the immune system. It is characterized by a lack of, or low levels of, the protein known as Complement 4 (C4).
Etymology
The term "Complement" in this context refers to the complement system, a part of the immune system that enhances the ability of antibodies and phagocytic cells to clear microbes and damaged cells from an organism. The number "4" refers to the specific type of complement protein that is deficient.
Symptoms
People with Complement 4 deficiency may have an increased susceptibility to bacterial infections, particularly those caused by Neisseria species. They may also have a higher risk of developing autoimmune diseases, such as systemic lupus erythematosus (SLE).
Causes
Complement 4 deficiency is caused by mutations in the C4A and C4B genes. These genes provide instructions for making the Complement 4 protein, which plays a key role in the immune system's response to infection.
Diagnosis
Diagnosis of Complement 4 deficiency typically involves blood tests to measure the levels of complement proteins in the blood. 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 typically focuses on managing symptoms and preventing infections. This may involve the use of antibiotics, immunoglobulin therapy, and other treatments as needed.
See also
External links
- Medical encyclopedia article on Complement 4 deficiency
- Wikipedia's article - Complement 4 deficiency
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