Immunodeficiency with hyperimmunoglobulin M

Editor-In-Chief: Prab R Tumpati, MD
Obesity, Sleep & Internal medicine
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Immunodeficiency with hyperimmunoglobulin M
Synonyms	Hyper-IgM syndrome
Pronounce	N/A
Specialty	N/A
Symptoms	Recurrent infections, low levels of IgG, IgA, and IgE with normal or elevated IgM
Complications	Autoimmune disorders, liver disease, cancer
Onset	Usually in infancy or early childhood
Duration	Lifelong
Types	N/A
Causes	Genetic mutations affecting CD40 ligand or other related proteins
Risks	Male gender (for X-linked form)
Diagnosis	Blood tests showing immunoglobulin levels, genetic testing
Differential diagnosis	Common variable immunodeficiency, X-linked agammaglobulinemia
Prevention	N/A
Treatment	Immunoglobulin replacement therapy, antibiotics, hematopoietic stem cell transplantation
Medication	N/A
Prognosis	Variable, depending on severity and treatment
Frequency	Rare
Deaths	N/A

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

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