MBL deficiency

MBL Deficiency is a condition that affects the immune system. It is characterized by a lack of the protein mannose-binding lectin (MBL), which plays a crucial role in the body's immune response. MBL deficiency can lead to an increased susceptibility to infections, particularly in early childhood.

Causes

MBL deficiency is caused by mutations in the MBL2 gene. This gene provides instructions for making mannose-binding lectin, a protein that recognizes and attaches to foreign invaders such as bacteria and viruses, marking them for destruction. Mutations in the MBL2 gene reduce the amount of functional mannose-binding lectin, impairing the body's ability to fight off infections.

Symptoms

The symptoms of MBL deficiency can vary widely, from no symptoms at all to recurrent infections. The most common infections in people with MBL deficiency are of the respiratory tract, such as pneumonia and bronchitis. Other common infections include ear infections, sinusitis, and skin infections. In severe cases, individuals with MBL deficiency may also be more susceptible to life-threatening infections such as sepsis.

Diagnosis

Diagnosis of MBL deficiency is based on a combination of clinical findings and genetic testing. The genetic test involves analyzing a sample of blood to look for mutations in the MBL2 gene. However, because many people with MBL deficiency do not have any symptoms, the condition is often discovered during testing for other reasons.

Treatment

There is currently no cure for MBL deficiency. Treatment is focused on managing symptoms and preventing infections. This may involve the use of antibiotics to treat existing infections and prophylactic antibiotics to prevent future infections. In some cases, individuals with MBL deficiency may also benefit from immunoglobulin therapy, which provides the body with the antibodies it needs to fight off infections.

See also

• Immune system
• MBL2
• Mannose-binding lectin
• Immunoglobulin therapy

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