Hyper-IgM syndrome type 1

Hyper-IgM syndrome type 1 is a rare genetic disorder characterized by a malfunctioning immune system. This condition primarily affects males and is caused by mutations in the CD40 ligand gene.

Symptoms

The symptoms of Hyper-IgM syndrome type 1 typically become apparent in infancy or early childhood. They include frequent and severe bacterial infections, such as pneumonia, sinusitis, and meningitis. Affected individuals may also experience opportunistic infections, which are infections caused by microorganisms that do not usually cause disease in people with healthy immune systems.

Causes

Hyper-IgM syndrome type 1 is caused by mutations in the CD40 ligand gene. This gene provides instructions for making a protein that is essential for the activation of B cells, which are specialized white blood cells that produce antibodies to fight infection. Mutations in the CD40 ligand gene disrupt the interaction between B cells and T cells, leading to a decrease in the production of antibodies and an increased susceptibility to infections.

Diagnosis

The diagnosis of Hyper-IgM syndrome type 1 is based on the presence of characteristic symptoms, a detailed patient history, a thorough clinical evaluation, and specialized tests. These tests may include blood tests to measure levels of immunoglobulins, genetic testing to identify mutations in the CD40 ligand gene, and an examination of the immune system's response to vaccines.

Treatment

There is currently no cure for Hyper-IgM syndrome type 1. Treatment is aimed at managing symptoms and preventing infections. This may include the use of antibiotics to treat bacterial infections, immunoglobulin therapy to boost the immune system, and in some cases, a bone marrow transplant.

See also

• Immunodeficiency
• Genetic disorder
• CD40 ligand
• B cells
• T cells

References

Hyper-IgM syndrome type 1 Resources
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