Complement 2 deficiency: Difference between revisions
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{{Infobox medical condition | {{SI}} | ||
| name | {{Infobox medical condition | ||
| | | name = Complement 2 deficiency | ||
| | | image = [[File:Protein_C2_PDB_2i6q.png|250px]] | ||
| | | caption = Structure of Complement Component 2 | ||
| pronounce | | synonyms = C2 deficiency | ||
| | | pronounce = | ||
| symptoms | | specialty = [[Immunology]] | ||
| symptoms = Increased susceptibility to [[bacterial infections]], [[autoimmune diseases]] | |||
| onset | | onset = | ||
| duration | | duration = | ||
| types | | types = | ||
| causes | | causes = Genetic mutation in the [[C2 gene]] | ||
| risks | | risks = | ||
| diagnosis | | diagnosis = [[Genetic testing]], [[complement system]] assays | ||
| differential | | differential = Other [[complement deficiencies]] | ||
| prevention | | prevention = | ||
| treatment | | treatment = [[Antibiotics]] for infections, management of autoimmune conditions | ||
| medication | | medication = | ||
| prognosis | | prognosis = Variable, depending on severity and management | ||
| frequency | | frequency = Rare | ||
| deaths | | deaths = | ||
}} | }} | ||
'''Complement 2 deficiency''' is a | {{DISPLAYTITLE:Complement 2 Deficiency}} | ||
== Complement 2 Deficiency == | |||
[[File:Protein_C2_PDB_2i6q.png|thumb|left|300px|Structure of Complement Component 2]] | |||
'''Complement 2 deficiency''' is a rare genetic disorder that affects the [[immune system]]. It is characterized by a deficiency in the [[complement system]], specifically the absence or malfunction of [[complement component 2]] (C2). This deficiency can lead to increased susceptibility to infections and autoimmune diseases. | |||
== Pathophysiology == | |||
The [[complement system]] is a crucial part of the innate immune response, consisting of a series of small proteins that enhance the ability of antibodies and phagocytic cells to clear pathogens from an organism. Complement component 2 is a part of the classical pathway of complement activation. In individuals with complement 2 deficiency, the classical pathway is impaired, leading to reduced opsonization and clearance of pathogens. | |||
== | == Clinical Manifestations == | ||
Patients with complement 2 deficiency may present with recurrent bacterial infections, particularly with encapsulated organisms such as [[Streptococcus pneumoniae]] and [[Neisseria meningitidis]]. They may also have an increased risk of developing autoimmune conditions such as [[systemic lupus erythematosus]] (SLE). | |||
== | == Diagnosis == | ||
Diagnosis of complement 2 deficiency is typically made through laboratory testing. This includes measuring the levels of complement components in the blood and assessing the functional activity of the complement pathways. Genetic testing can confirm mutations in the C2 gene. | |||
== Treatment == | |||
There is no specific cure for complement 2 deficiency. Management focuses on preventing infections through vaccination and prophylactic antibiotics. In cases of autoimmune disease, immunosuppressive therapy may be required. | |||
== Prognosis == | |||
The prognosis for individuals with complement 2 deficiency varies depending on the severity of the deficiency and the presence of associated conditions. With appropriate management, many individuals can lead relatively normal lives. | |||
== See Also == | |||
* [[Complement system]] | |||
* [[Autoimmune disease]] | |||
* [[Immune deficiency]] | |||
[[Category:Genetic disorders]] | |||
[[Category:Immunology]] | |||
[[Category: | |||
Latest revision as of 00:02, 6 April 2025
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| Complement 2 deficiency | |
|---|---|
| File:Protein C2 PDB 2i6q.png | |
| Synonyms | C2 deficiency |
| Pronounce | |
| Specialty | Immunology |
| Symptoms | Increased susceptibility to bacterial infections, autoimmune diseases |
| Complications | N/A |
| Onset | |
| Duration | |
| Types | |
| Causes | Genetic mutation in the C2 gene |
| Risks | |
| Diagnosis | Genetic testing, complement system assays |
| Differential diagnosis | Other complement deficiencies |
| Prevention | |
| Treatment | Antibiotics for infections, management of autoimmune conditions |
| Medication | |
| Prognosis | Variable, depending on severity and management |
| Frequency | Rare |
| Deaths | |
Complement 2 Deficiency[edit]
Complement 2 deficiency is a rare genetic disorder that affects the immune system. It is characterized by a deficiency in the complement system, specifically the absence or malfunction of complement component 2 (C2). This deficiency can lead to increased susceptibility to infections and autoimmune diseases.
Pathophysiology[edit]
The complement system is a crucial part of the innate immune response, consisting of a series of small proteins that enhance the ability of antibodies and phagocytic cells to clear pathogens from an organism. Complement component 2 is a part of the classical pathway of complement activation. In individuals with complement 2 deficiency, the classical pathway is impaired, leading to reduced opsonization and clearance of pathogens.
Clinical Manifestations[edit]
Patients with complement 2 deficiency may present with recurrent bacterial infections, particularly with encapsulated organisms such as Streptococcus pneumoniae and Neisseria meningitidis. They may also have an increased risk of developing autoimmune conditions such as systemic lupus erythematosus (SLE).
Diagnosis[edit]
Diagnosis of complement 2 deficiency is typically made through laboratory testing. This includes measuring the levels of complement components in the blood and assessing the functional activity of the complement pathways. Genetic testing can confirm mutations in the C2 gene.
Treatment[edit]
There is no specific cure for complement 2 deficiency. Management focuses on preventing infections through vaccination and prophylactic antibiotics. In cases of autoimmune disease, immunosuppressive therapy may be required.
Prognosis[edit]
The prognosis for individuals with complement 2 deficiency varies depending on the severity of the deficiency and the presence of associated conditions. With appropriate management, many individuals can lead relatively normal lives.
