Hyper-IgM syndrome type 4

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Hyper-IgM syndrome type 4
Synonyms CD40 ligand deficiency
Pronounce N/A
Specialty Immunology
Symptoms Recurrent infections, low levels of IgG, IgA, and IgE
Complications N/A
Onset Usually in infancy
Duration Lifelong
Types N/A
Causes Genetic mutation in the CD40LG gene
Risks Increased susceptibility to opportunistic infections
Diagnosis Genetic testing, measurement of immunoglobulin levels
Differential diagnosis N/A
Prevention N/A
Treatment Immunoglobulin replacement therapy, antibiotics for infections
Medication N/A
Prognosis Variable, depending on severity and treatment
Frequency Rare
Deaths N/A


Hyper-IgM syndrome type 4 is a rare immunodeficiency disorder characterized by a decreased ability to fight infections. This condition is one of several types of hyper-IgM syndrome, which are all distinguished by low levels of certain types of antibodies in the blood.

Symptoms[edit]

People with Hyper-IgM syndrome type 4 have a reduced ability to produce specific types of antibodies, leading to a higher susceptibility to infections. These infections can be recurrent and can affect various parts of the body, including the respiratory system, gastrointestinal tract, and skin.

Causes[edit]

Hyper-IgM syndrome type 4 is caused by mutations in the activation-induced cytidine deaminase (AID) gene. This gene is involved in the process of class switch recombination, which is essential for the production of different types of antibodies.

Diagnosis[edit]

Diagnosis of Hyper-IgM syndrome type 4 is based on the presence of characteristic symptoms, a detailed patient history, a thorough clinical evaluation, and specialized tests such as genetic testing to identify mutations in the AID gene.

Treatment[edit]

Treatment is focused on managing the symptoms and preventing infections. This may include antibiotics, immunoglobulin therapy, and in severe cases, hematopoietic stem cell transplantation.

See also[edit]

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  • Hyper-IgM_syndrome_type_4
  • IgM scheme
    IgM scheme
  • Class switch recombination
    Class switch recombination

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