MBL deficiency

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MBL deficiency
Protein MBL2 PDB 1hup.png
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[edit | edit source]

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[edit | edit source]

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[edit | edit source]

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[edit | edit source]

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[edit | edit source]

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[edit | edit source]

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Contributors: Prab R. Tumpati, MD