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[edit | edit source]
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[edit | edit source]
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[edit | edit source]
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[edit | edit source]
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[edit | edit source]
References[edit | edit source]
Immunodeficiency with hyperimmunoglobulin M Resources | ||
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Contributors: Prab R. Tumpati, MD