MBL deficiency

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Obesity, Sleep & Internal medicine
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MBL deficiency
Synonyms	Mannan-binding lectin deficiency, Mannose-binding protein deficiency
Pronounce	N/A
Specialty	N/A
Symptoms	Increased susceptibility to infections, particularly in childhood
Complications	Recurrent infections, autoimmune diseases
Onset	Usually in childhood
Duration	Lifelong
Types	N/A
Causes	Genetic mutations in the MBL2 gene
Risks	Family history, certain genetic backgrounds
Diagnosis	Blood test for MBL levels, genetic testing
Differential diagnosis	Common variable immunodeficiency, IgA deficiency
Prevention	None
Treatment	Antibiotics for infections, immunoglobulin therapy in severe cases
Medication	N/A
Prognosis	Generally good with management
Frequency	Varies by population, more common in certain ethnic groups
Deaths	N/A

Mannose-Binding Lectin (MBL) Deficiency is a condition characterized by low levels of the mannose-binding lectin protein in the blood. MBL is a crucial component of the innate immune system, playing a significant role in the body's first line of defense against pathogens.

Function of MBL

MBL is a collectin, a type of protein that binds to carbohydrates on the surface of a wide range of microorganisms, including bacteria, viruses, and fungi. This binding activates the lectin pathway of the complement system, leading to opsonization and phagocytosis of the pathogens.

Genetic Basis

MBL deficiency is often caused by mutations in the MBL2 gene, which encodes the MBL protein. These mutations can lead to reduced levels of functional MBL in the bloodstream. The MBL2 gene is located on chromosome 10.

Clinical Significance

Individuals with MBL deficiency may have an increased susceptibility to infections, particularly in early childhood. However, the clinical significance of MBL deficiency can vary widely among individuals. Some people with low MBL levels may not experience any increased risk of infections, while others may have recurrent infections.

Diagnosis

Diagnosis of MBL deficiency is typically made through blood tests that measure the level of MBL in the serum. Genetic testing can also identify mutations in the MBL2 gene.

Management

There is currently no specific treatment for MBL deficiency. Management focuses on preventing and treating infections. In some cases, prophylactic antibiotics or immunoglobulin therapy may be considered for individuals with recurrent infections.

See also

• Complement system
• Innate immune system
• Genetic disorders