PLAID syndrome

Autosomal dominant - en

PLAID syndrome (PLCG2-associated antibody deficiency and immune dysregulation) is a rare genetic disorder characterized by immune system abnormalities. It is caused by mutations in the PLCG2 gene, which plays a crucial role in the signaling pathways of the immune system.

Genetics

PLAID syndrome is inherited in an autosomal dominant manner, meaning a single copy of the mutated gene can cause the disorder. The PLCG2 gene provides instructions for making an enzyme that is involved in the activation of immune cells. Mutations in this gene disrupt normal immune function, leading to the symptoms observed in PLAID syndrome.

Symptoms

Individuals with PLAID syndrome may experience a variety of symptoms, including:

• Antibody deficiency, leading to increased susceptibility to infections
• Autoimmunity, where the immune system attacks the body's own tissues
• Cold urticaria, a condition where exposure to cold temperatures causes hives and swelling
• Granulomatous disease, characterized by the formation of granulomas, which are clusters of immune cells

Diagnosis

Diagnosis of PLAID syndrome typically involves genetic testing to identify mutations in the PLCG2 gene. Additional tests may include blood tests to evaluate immune function and skin tests to assess reactions to cold exposure.

Treatment

There is no cure for PLAID syndrome, but treatment focuses on managing symptoms and preventing infections. This may include:

• Immunoglobulin replacement therapy to boost antibody levels
• Immunosuppressive drugs to control autoimmune symptoms
• Avoidance of cold exposure to prevent cold urticaria

Prognosis

The prognosis for individuals with PLAID syndrome varies depending on the severity of symptoms and the effectiveness of treatment. With appropriate management, many individuals can lead relatively normal lives.

Related Pages

• Genetic disorder
• Immune system
• Autoimmunity
• Cold urticaria
• Granulomatous disease
• Immunoglobulin replacement therapy
• Immunosuppressive drugs

Categories

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