Properdin deficiency: Difference between revisions
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{{Infobox medical condition | |||
[[File:X-linked_recessive.svg| | | name = Properdin deficiency | ||
| image = [[File:X-linked_recessive.svg|200px]] | |||
| caption = X-linked recessive inheritance | |||
| field = [[Immunology]] | |||
| symptoms = [[Recurrent infections]], [[meningitis]], [[sepsis]] | |||
| complications = Increased risk of [[Neisseria meningitidis]] infections | |||
| onset = Usually in [[childhood]] | |||
| duration = Lifelong | |||
| causes = [[Genetic mutation]] in the [[properdin]] gene | |||
| risks = Male gender (due to [[X-linked recessive]] inheritance) | |||
| diagnosis = [[Complement system]] testing, [[genetic testing]] | |||
| differential = Other [[complement deficiencies]], [[immunodeficiencies]] | |||
| prevention = [[Vaccination]] against [[Neisseria meningitidis]] | |||
| treatment = [[Antibiotics]] for infections, [[immunization]] | |||
| prognosis = Variable, depending on infection management | |||
| frequency = Rare | |||
}} | |||
'''Properdin deficiency''' is a rare [[immunodeficiency]] disorder characterized by a deficiency of properdin, a protein that plays a crucial role in the [[complement system]], which is part of the [[innate immune system]]. Properdin is the only known positive regulator of the complement alternative pathway, and its deficiency can lead to increased susceptibility to infections, particularly those caused by [[Neisseria meningitidis]]. | '''Properdin deficiency''' is a rare [[immunodeficiency]] disorder characterized by a deficiency of properdin, a protein that plays a crucial role in the [[complement system]], which is part of the [[innate immune system]]. Properdin is the only known positive regulator of the complement alternative pathway, and its deficiency can lead to increased susceptibility to infections, particularly those caused by [[Neisseria meningitidis]]. | ||
== Pathophysiology == | == Pathophysiology == | ||
Properdin is a glycoprotein that stabilizes the alternative pathway convertases, C3bBb, on microbial surfaces, enhancing the opsonization and clearance of pathogens. In properdin deficiency, the lack of this stabilization results in impaired opsonization and phagocytosis of bacteria, leading to increased vulnerability to infections. | Properdin is a glycoprotein that stabilizes the alternative pathway convertases, C3bBb, on microbial surfaces, enhancing the opsonization and clearance of pathogens. In properdin deficiency, the lack of this stabilization results in impaired opsonization and phagocytosis of bacteria, leading to increased vulnerability to infections. | ||
== Genetics == | == Genetics == | ||
Properdin deficiency is inherited in an [[X-linked recessive]] manner, meaning the gene responsible for the condition is located on the X chromosome. Males, having only one X chromosome, are more frequently affected, while females, with two X chromosomes, are typically carriers. Affected males inherit the defective gene from their carrier mothers. | Properdin deficiency is inherited in an [[X-linked recessive]] manner, meaning the gene responsible for the condition is located on the X chromosome. Males, having only one X chromosome, are more frequently affected, while females, with two X chromosomes, are typically carriers. Affected males inherit the defective gene from their carrier mothers. | ||
== Clinical Manifestations == | == Clinical Manifestations == | ||
Individuals with properdin deficiency are particularly susceptible to infections by encapsulated bacteria, especially Neisseria meningitidis, which can cause [[meningitis]] and [[septicemia]]. The severity of infections can vary, and some individuals may remain asymptomatic. | Individuals with properdin deficiency are particularly susceptible to infections by encapsulated bacteria, especially Neisseria meningitidis, which can cause [[meningitis]] and [[septicemia]]. The severity of infections can vary, and some individuals may remain asymptomatic. | ||
== Diagnosis == | == Diagnosis == | ||
Diagnosis of properdin deficiency involves laboratory tests to measure the levels of properdin in the blood. Genetic testing can confirm the presence of mutations in the properdin gene. | Diagnosis of properdin deficiency involves laboratory tests to measure the levels of properdin in the blood. Genetic testing can confirm the presence of mutations in the properdin gene. | ||
== Management == | == Management == | ||
Management of properdin deficiency focuses on preventing infections through vaccination and prophylactic antibiotics. In cases of infection, prompt treatment with appropriate antibiotics is crucial. | Management of properdin deficiency focuses on preventing infections through vaccination and prophylactic antibiotics. In cases of infection, prompt treatment with appropriate antibiotics is crucial. | ||
== See also == | |||
== | |||
* [[Complement system]] | * [[Complement system]] | ||
* [[Immunodeficiency]] | * [[Immunodeficiency]] | ||
* [[Neisseria meningitidis]] | * [[Neisseria meningitidis]] | ||
* [[X-linked recessive inheritance]] | * [[X-linked recessive inheritance]] | ||
[[Category:Immunodeficiency disorders]] | [[Category:Immunodeficiency disorders]] | ||
[[Category:Genetic disorders]] | [[Category:Genetic disorders]] | ||
Revision as of 15:32, 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
| Properdin deficiency | |
|---|---|
| |
| Synonyms | N/A |
| Pronounce | N/A |
| Specialty | N/A |
| Symptoms | Recurrent infections, meningitis, sepsis |
| Complications | Increased risk of Neisseria meningitidis infections |
| Onset | Usually in childhood |
| Duration | Lifelong |
| Types | N/A |
| Causes | Genetic mutation in the properdin gene |
| Risks | Male gender (due to X-linked recessive inheritance) |
| Diagnosis | Complement system testing, genetic testing |
| Differential diagnosis | Other complement deficiencies, immunodeficiencies |
| Prevention | Vaccination against Neisseria meningitidis |
| Treatment | Antibiotics for infections, immunization |
| Medication | N/A |
| Prognosis | Variable, depending on infection management |
| Frequency | Rare |
| Deaths | N/A |
Properdin deficiency is a rare immunodeficiency disorder characterized by a deficiency of properdin, a protein that plays a crucial role in the complement system, which is part of the innate immune system. Properdin is the only known positive regulator of the complement alternative pathway, and its deficiency can lead to increased susceptibility to infections, particularly those caused by Neisseria meningitidis.
Pathophysiology
Properdin is a glycoprotein that stabilizes the alternative pathway convertases, C3bBb, on microbial surfaces, enhancing the opsonization and clearance of pathogens. In properdin deficiency, the lack of this stabilization results in impaired opsonization and phagocytosis of bacteria, leading to increased vulnerability to infections.
Genetics
Properdin deficiency is inherited in an X-linked recessive manner, meaning the gene responsible for the condition is located on the X chromosome. Males, having only one X chromosome, are more frequently affected, while females, with two X chromosomes, are typically carriers. Affected males inherit the defective gene from their carrier mothers.
Clinical Manifestations
Individuals with properdin deficiency are particularly susceptible to infections by encapsulated bacteria, especially Neisseria meningitidis, which can cause meningitis and septicemia. The severity of infections can vary, and some individuals may remain asymptomatic.
Diagnosis
Diagnosis of properdin deficiency involves laboratory tests to measure the levels of properdin in the blood. Genetic testing can confirm the presence of mutations in the properdin gene.
Management
Management of properdin deficiency focuses on preventing infections through vaccination and prophylactic antibiotics. In cases of infection, prompt treatment with appropriate antibiotics is crucial.
