Complement 4 deficiency: Difference between revisions
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{{Infobox medical condition | |||
| name = Complement 4 deficiency | |||
| synonyms = C4 deficiency | |||
| field = [[Immunology]] | |||
| symptoms = Increased susceptibility to [[infections]], [[autoimmune disorders]] | |||
| complications = [[Systemic lupus erythematosus]], [[glomerulonephritis]] | |||
| onset = Congenital or acquired | |||
| duration = Lifelong | |||
| causes = Genetic mutations in the [[C4A]] or [[C4B]] genes | |||
| risks = Family history of [[autoimmune diseases]] | |||
| diagnosis = [[Complement system]] testing, [[genetic testing]] | |||
| differential = Other complement deficiencies, [[autoimmune diseases]] | |||
| treatment = [[Immunosuppressive therapy]], [[antibiotics]] for infections | |||
| prognosis = Variable, depending on severity and management | |||
| frequency = Rare | |||
}} | |||
'''Complement 4 deficiency''' is a rare [[genetic disorder]] characterized by a lack of, or low levels of, the [[protein]] known as complement 4 (C4). This protein plays a crucial role in the [[immune system]], helping to fight off infections and remove damaged cells. | '''Complement 4 deficiency''' is a rare [[genetic disorder]] characterized by a lack of, or low levels of, the [[protein]] known as complement 4 (C4). This protein plays a crucial role in the [[immune system]], helping to fight off infections and remove damaged cells. | ||
==Overview== | ==Overview== | ||
Complement 4 is part of the [[complement system]], a group of proteins that work together to support the immune system. When the body is invaded by foreign substances such as [[bacteria]] or [[viruses]], the complement system is activated to help destroy these invaders. Complement 4 is a key player in this process, helping to mark the invaders for destruction by other immune cells. | Complement 4 is part of the [[complement system]], a group of proteins that work together to support the immune system. When the body is invaded by foreign substances such as [[bacteria]] or [[viruses]], the complement system is activated to help destroy these invaders. Complement 4 is a key player in this process, helping to mark the invaders for destruction by other immune cells. | ||
==Causes== | ==Causes== | ||
Complement 4 deficiency is caused by mutations in the [[C4A]] and [[C4B]] genes. These genes provide instructions for making the two forms of complement 4, known as C4A and C4B. Mutations in these genes can lead to reduced levels of the C4 protein, impairing the body's ability to effectively fight off infections. | Complement 4 deficiency is caused by mutations in the [[C4A]] and [[C4B]] genes. These genes provide instructions for making the two forms of complement 4, known as C4A and C4B. Mutations in these genes can lead to reduced levels of the C4 protein, impairing the body's ability to effectively fight off infections. | ||
==Symptoms== | ==Symptoms== | ||
The symptoms of complement 4 deficiency can vary widely, depending on the severity of the deficiency and the individual's overall health. Some people with this condition may experience frequent infections, while others may have autoimmune disorders such as [[lupus]] or [[rheumatoid arthritis]]. In some cases, the deficiency may not cause any noticeable symptoms. | The symptoms of complement 4 deficiency can vary widely, depending on the severity of the deficiency and the individual's overall health. Some people with this condition may experience frequent infections, while others may have autoimmune disorders such as [[lupus]] or [[rheumatoid arthritis]]. In some cases, the deficiency may not cause any noticeable symptoms. | ||
==Diagnosis== | ==Diagnosis== | ||
Diagnosis of complement 4 deficiency typically involves blood tests to measure the levels of complement proteins in the body. Genetic testing may also be performed to identify mutations in the C4A and C4B genes. | Diagnosis of complement 4 deficiency typically involves blood tests to measure the levels of complement proteins in the body. Genetic testing may also be performed to identify mutations in the C4A and C4B genes. | ||
==Treatment== | ==Treatment== | ||
There is currently no cure for complement 4 deficiency. Treatment is typically focused on managing the symptoms and preventing infections. This may involve the use of [[antibiotics]], [[immunoglobulin therapy]], or other treatments as needed. | There is currently no cure for complement 4 deficiency. Treatment is typically focused on managing the symptoms and preventing infections. This may involve the use of [[antibiotics]], [[immunoglobulin therapy]], or other treatments as needed. | ||
==See also== | ==See also== | ||
* [[Complement system]] | * [[Complement system]] | ||
| Line 21: | Line 32: | ||
* [[Genetic disorder]] | * [[Genetic disorder]] | ||
* [[Autoimmune disease]] | * [[Autoimmune disease]] | ||
[[Category:Genetic disorders]] | [[Category:Genetic disorders]] | ||
[[Category:Immune system disorders]] | [[Category:Immune system disorders]] | ||
Latest revision as of 03:19, 4 April 2025
| Complement 4 deficiency | |
|---|---|
| Synonyms | C4 deficiency |
| Pronounce | N/A |
| Specialty | N/A |
| Symptoms | Increased susceptibility to infections, autoimmune disorders |
| Complications | Systemic lupus erythematosus, glomerulonephritis |
| Onset | Congenital or acquired |
| Duration | Lifelong |
| Types | N/A |
| Causes | Genetic mutations in the C4A or C4B genes |
| Risks | Family history of autoimmune diseases |
| Diagnosis | Complement system testing, genetic testing |
| Differential diagnosis | Other complement deficiencies, autoimmune diseases |
| Prevention | N/A |
| Treatment | Immunosuppressive therapy, antibiotics for infections |
| Medication | N/A |
| Prognosis | Variable, depending on severity and management |
| Frequency | Rare |
| Deaths | N/A |
Complement 4 deficiency is a rare genetic disorder characterized by a lack of, or low levels of, the protein known as complement 4 (C4). This protein plays a crucial role in the immune system, helping to fight off infections and remove damaged cells.
Overview[edit]
Complement 4 is part of the complement system, a group of proteins that work together to support the immune system. When the body is invaded by foreign substances such as bacteria or viruses, the complement system is activated to help destroy these invaders. Complement 4 is a key player in this process, helping to mark the invaders for destruction by other immune cells.
Causes[edit]
Complement 4 deficiency is caused by mutations in the C4A and C4B genes. These genes provide instructions for making the two forms of complement 4, known as C4A and C4B. Mutations in these genes can lead to reduced levels of the C4 protein, impairing the body's ability to effectively fight off infections.
Symptoms[edit]
The symptoms of complement 4 deficiency can vary widely, depending on the severity of the deficiency and the individual's overall health. Some people with this condition may experience frequent infections, while others may have autoimmune disorders such as lupus or rheumatoid arthritis. In some cases, the deficiency may not cause any noticeable symptoms.
Diagnosis[edit]
Diagnosis of complement 4 deficiency typically involves blood tests to measure the levels of complement proteins in the body. Genetic testing may also be performed to identify mutations in the C4A and C4B genes.
Treatment[edit]
There is currently no cure for complement 4 deficiency. Treatment is typically focused on managing the symptoms and preventing infections. This may involve the use of antibiotics, immunoglobulin therapy, or other treatments as needed.
See also[edit]
This article is a genetic disorder stub. You can help WikiMD by expanding it!
This immune system related article is a stub. You can help WikiMD by expanding it.
