Hyper-IgM syndrome type 4

Hyper-IgM syndrome type 4 is a rare immunodeficiency disorder characterized by a decreased ability to fight infections. This condition is one of several types of hyper-IgM syndrome, which are all distinguished by low levels of certain types of antibodies in the blood.

Symptoms

People with Hyper-IgM syndrome type 4 have a reduced ability to produce specific types of antibodies, leading to a higher susceptibility to infections. These infections can be recurrent and can affect various parts of the body, including the respiratory system, gastrointestinal tract, and skin.

Causes

Hyper-IgM syndrome type 4 is caused by mutations in the activation-induced cytidine deaminase (AID) gene. This gene is involved in the process of class switch recombination, which is essential for the production of different types of antibodies.

Diagnosis

Diagnosis of Hyper-IgM syndrome type 4 is based on the presence of characteristic symptoms, a detailed patient history, a thorough clinical evaluation, and specialized tests such as genetic testing to identify mutations in the AID gene.

Treatment

Treatment is focused on managing the symptoms and preventing infections. This may include antibiotics, immunoglobulin therapy, and in severe cases, hematopoietic stem cell transplantation.

See also

• Hyper-IgM syndrome
• Immunodeficiency
• Antibodies
• Infections

Hyper-IgM syndrome type 4 Resources
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