MBL deficiency: Difference between revisions
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{{Infobox medical condition | |||
| name = MBL deficiency | |||
| image = [[File:Protein_MBL2_PDB_1hup.png|250px]] | |||
| caption = Structure of [[mannose-binding lectin]] | |||
| field = [[Immunology]] | |||
| synonyms = Mannan-binding lectin deficiency, Mannose-binding protein deficiency | |||
| symptoms = Increased susceptibility to infections, particularly in childhood | |||
| complications = [[Recurrent infections]], [[autoimmune diseases]] | |||
| onset = Usually in [[childhood]] | |||
| duration = Lifelong | |||
| causes = Genetic mutations in the [[MBL2]] gene | |||
| risks = Family history, certain [[genetic]] backgrounds | |||
| diagnosis = [[Blood test]] for MBL levels, [[genetic testing]] | |||
| differential = [[Common variable immunodeficiency]], [[IgA deficiency]] | |||
| prevention = None | |||
| treatment = [[Antibiotics]] for infections, [[immunoglobulin therapy]] in severe cases | |||
| prognosis = Generally good with management | |||
| frequency = Varies by population, more common in certain ethnic groups | |||
}} | |||
{{DISPLAYTITLE:MBL Deficiency}} | {{DISPLAYTITLE:MBL Deficiency}} | ||
'''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. | '''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 == | == 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. | 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 == | == 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. | 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 == | == 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. | 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 == | ||
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 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 == | == 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. | 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]] | * [[Complement system]] | ||
* [[Innate immune system]] | * [[Innate immune system]] | ||
* [[Genetic disorders]] | * [[Genetic disorders]] | ||
[[Category:Genetic disorders]] | [[Category:Genetic disorders]] | ||
[[Category:Immunology]] | [[Category:Immunology]] | ||
Latest revision as of 03:51, 8 April 2025
Editor-In-Chief: Prab R Tumpati, MD
Obesity, Sleep & Internal medicine
Founder, WikiMD Wellnesspedia &
W8MD medical weight loss NYC and sleep center NYC
| 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[edit]
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]
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]
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]
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]
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.
