MBL deficiency

MBL Deficiency

MBL Deficiency (pronounced em-bee-el deficiency), also known as Mannose-binding lectin deficiency, is a condition that affects the immune system.

Etymology

The term "MBL" is an abbreviation for Mannose-binding lectin, a type of protein that plays a crucial role in the immune response. "Deficiency" refers to the lack or shortage of something. In this context, it refers to the lack of MBL protein in the body.

Definition

MBL Deficiency is a condition characterized by low levels or absence of the MBL protein in the blood. This protein is essential for the proper functioning of the immune system as it aids in the identification and elimination of pathogens.

Symptoms

People with MBL Deficiency may not show any symptoms until they encounter a pathogen. The deficiency can lead to an increased susceptibility to infections, particularly in children. Common infections include bacterial infections, viral infections, and less commonly, fungal infections and parasitic infections.

Causes

MBL Deficiency is caused by mutations in the MBL2 gene, which provides instructions for making the MBL protein. These mutations can lead to the production of a smaller, non-functional version of the protein, or reduce the amount of the protein that is produced.

Diagnosis

Diagnosis of MBL Deficiency involves blood tests to measure the level of MBL protein in the blood. Genetic testing may also be performed to identify mutations in the MBL2 gene.

Treatment

There is currently no specific treatment for MBL Deficiency. Management of the condition primarily involves treating and preventing infections. This may include the use of antibiotics, antiviral drugs, and vaccinations.

Related Terms

• Immune system
• MBL2 gene
• Infections
• Antibiotics
• Antiviral drugs
• Vaccinations

External links

• Medical encyclopedia article on MBL deficiency
• Wikipedia's article - MBL deficiency

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