Immunodeficiency with hyperimmunoglobulin M

Immunodeficiency with hyperimmunoglobulin M (also known as Hyper IgM syndrome) is a rare and complex primary immunodeficiency disease characterized by low levels of antibodies necessary for defending the body against bacterial or viral infections.

Symptoms

Patients with Hyper IgM syndrome may experience frequent and severe infections, including pneumonia, sinusitis, and skin infections. Other symptoms may include diarrhea, hepatitis, and encephalitis.

Causes

Hyper IgM syndrome is caused by mutations in several different genes, including the CD40 ligand gene, which is located on the X chromosome. This is why the disease is more common in males.

Diagnosis

Diagnosis of Hyper IgM syndrome is based on clinical symptoms, family history, and laboratory tests. These tests may include immunoglobulin levels, antibody response to vaccines, and genetic testing.

Treatment

Treatment for Hyper IgM syndrome is aimed at preventing and treating infections. This may include antibiotics, immunoglobulin replacement therapy, and in severe cases, hematopoietic stem cell transplantation.

See also

• Primary immunodeficiency
• Immunoglobulin M
• CD40 ligand

References

Immunodeficiency with hyperimmunoglobulin M Resources
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