Complement 2 deficiency
Complement 2 deficiency (pronounced: kuhm-pleh-ment too deh-fish-en-see) is a rare disorder characterized by an impaired immune system due to a deficiency in the complement component 2 (C2) protein. This protein plays a crucial role in the body's immune response, and its deficiency can lead to recurrent infections and autoimmune diseases.
Etymology
The term "Complement 2 deficiency" is derived from the word "complement," which refers to a group of proteins in the blood that play a role in the immune response, and "2," which refers to the specific protein that is deficient. The term "deficiency" comes from the Latin word "deficientia," meaning "a lack or shortage."
Symptoms
People with Complement 2 deficiency may experience recurrent bacterial infections, particularly of the upper respiratory tract. They may also be more susceptible to autoimmune diseases such as systemic lupus erythematosus (SLE) and rheumatoid arthritis.
Causes
Complement 2 deficiency is caused by mutations in the C2 gene, which provides instructions for making the C2 protein. These mutations prevent the production of the C2 protein, leading to a deficiency.
Diagnosis
Diagnosis of Complement 2 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 C2 gene.
Treatment
Treatment for Complement 2 deficiency primarily involves managing the symptoms and preventing infections. This may include antibiotics to treat bacterial infections and immunosuppressive drugs to manage autoimmune diseases.
See also
External links
- Medical encyclopedia article on Complement 2 deficiency
- Wikipedia's article - Complement 2 deficiency
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