MBL deficiency: Difference between revisions

Revision as of 11:22, 15 February 2025

Overview

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.

Related Pages

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-'''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.
+{{DISPLAYTITLE:MBL Deficiency}}
-== Causes ==
+== Overview ==
+[[File:Protein_MBL2_PDB_1hup.png|thumb|right|Structure of Mannose-Binding Lectin (MBL)]]
+'''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.
-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.
+== 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.
-== Symptoms ==
+== 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.
-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]].
+== 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 ==
+[[File:Protein_MBL2_PDB_1hup.png|thumb|left|MBL protein structure highlighting its carbohydrate recognition domain]]
+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.
-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.
+== 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.
-== Treatment ==
+== Related Pages ==
+* [[Complement system]]
-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.
+* [[Innate immune system]]
+* [[Genetic disorders]]
-== See also ==
-* [[Immune system]]
-* [[MBL2]]
-* [[Mannose-binding lectin]]
-* [[Immunoglobulin therapy]]
 [[Category:Genetic disorders]]
-[[Category:Immune system disorders]]
+[[Category:Immunology]]
-[[Category:Rare diseases]]
-{{stub}}