Hyper-IgM syndrome type 3

Editor-In-Chief: Prab R Tumpati, MD
Obesity, Sleep & Internal medicine
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Hyper-IgM syndrome type 3
Synonyms	CD40 deficiency
Pronounce	N/A
Specialty	N/A
Symptoms	Recurrent infections, neutropenia, autoimmune disorders
Complications	Liver disease, cancer
Onset	Infancy
Duration	Chronic
Types	N/A
Causes	Genetic mutation in the CD40 gene
Risks	Family history of the condition
Diagnosis	Genetic testing, immunoglobulin level measurement
Differential diagnosis	Other types of Hyper-IgM syndrome, Common variable immunodeficiency
Prevention	Genetic counseling
Treatment	Immunoglobulin replacement therapy, hematopoietic stem cell transplantation
Medication	Antibiotics for infections, immunosuppressants
Prognosis	Variable, depending on treatment and complications
Frequency	Rare
Deaths	N/A

Class switch recombination

Hyper-IgM syndrome type 3 is a rare immunodeficiency disorder characterized by a defective immune system that primarily affects males. The condition is caused by mutations in the CD40 ligand gene, which is involved in the activation of B cells and their subsequent transformation into plasma cells that produce antibodies.

Symptoms

The symptoms of Hyper-IgM syndrome type 3 typically begin in infancy or early childhood. They include frequent and severe bacterial infections, pneumonia, sinusitis, and meningitis. Other symptoms may include diarrhea, skin rashes, and liver disease.

Causes

Hyper-IgM syndrome type 3 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 a type of white blood cell that produces antibodies. When the CD40 ligand protein is defective, B cells cannot transform into plasma cells to produce antibodies, leading to an impaired immune response.

Diagnosis

The diagnosis of Hyper-IgM syndrome type 3 is based on the presence of characteristic symptoms, a detailed patient history, a thorough clinical evaluation, and specialized tests. These tests may include measuring the levels of different types of antibodies in the blood and genetic testing to identify mutations in the CD40 ligand gene.

Treatment

There is currently no cure for Hyper-IgM syndrome type 3. Treatment is aimed at managing symptoms and preventing infections. This may include antibiotics to treat bacterial infections, immunoglobulin therapy to boost the immune system, and in severe cases, a bone marrow transplant.

Prognosis

The prognosis for individuals with Hyper-IgM syndrome type 3 varies. Some individuals have a normal lifespan with proper management, while others may have a shortened lifespan due to severe recurrent infections and complications such as liver disease.

See also

• Hyper-IgM syndrome
• Immunodeficiency disorders
• CD40 ligand
• B cells
• Antibodies

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