Hyper-IgM syndrome type 2

Hyper-IgM syndrome type 2 is a rare genetic disorder characterized by an immune system that is unable to respond effectively to certain infections. This condition primarily affects males.

Symptoms

The symptoms of Hyper-IgM syndrome type 2 typically become apparent in infancy or early childhood. These symptoms can include recurrent infections, particularly in the lungs, sinuses, and ears. Other symptoms can include diarrhea, pneumonia, and a failure to thrive.

Causes

Hyper-IgM syndrome type 2 is caused by mutations in the AICDA gene. This gene provides instructions for making an enzyme that is essential for the immune system to function properly. Mutations in the AICDA gene disrupt the normal function of this enzyme, leading to the symptoms of Hyper-IgM syndrome type 2.

Diagnosis

The diagnosis of Hyper-IgM syndrome type 2 is typically made based on the presence of characteristic symptoms, a detailed patient history, a thorough clinical evaluation, and a variety of specialized tests.

Treatment

The treatment of Hyper-IgM syndrome type 2 is directed toward the specific symptoms that are apparent in each individual. Treatment may include the administration of antibiotics to treat infections, immunoglobulin therapy to boost the immune system, and in some cases, a bone marrow transplant.

Prognosis

The prognosis of Hyper-IgM syndrome type 2 varies among affected individuals. The disorder is typically chronic and can be life-threatening in severe cases. However, with appropriate treatment and management, individuals with Hyper-IgM syndrome type 2 can lead a normal life.

See also

• Hyper-IgM syndrome
• AICDA
• Genetic disorder
• Immune system

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