PLAID syndrome
PLAID syndrome
PLAID syndrome (pronounced: /pleɪd/), also known as PLCG2-associated antibody deficiency and immune dysregulation, is a rare genetic disorder that affects the immune system.
Etymology
The term "PLAID" is an acronym derived from the phrase "PLCG2-Associated Antibody Deficiency and Immune Dysregulation". The gene PLCG2 is responsible for the condition, hence its inclusion in the name.
Definition
PLAID syndrome is characterized by recurrent infections, autoimmunity, and associated allergic reactions. The condition is caused by mutations in the PLCG2 gene, which plays a crucial role in the immune system's function.
Symptoms
Symptoms of PLAID syndrome can vary but often include recurrent infections, autoimmune diseases, and allergic reactions. Other symptoms may include eczema, urticaria, and angioedema.
Diagnosis
Diagnosis of PLAID syndrome is typically made through genetic testing, which can identify mutations in the PLCG2 gene. Other diagnostic methods may include blood tests to assess immune function and skin tests to identify allergic reactions.
Treatment
Treatment for PLAID syndrome is primarily focused on managing symptoms and preventing complications. This may include medications to control allergic reactions, immune system therapies, and preventative antibiotics to reduce the risk of infection.
Related Terms
External links
- Medical encyclopedia article on PLAID syndrome
- Wikipedia's article - PLAID syndrome
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