Hyper-IgM syndrome type 2

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Hyper-IgM syndrome type 2 (pronounced: hi-per eye-gee-em sin-drome type two) is a rare genetic disorder characterized by a defect in the immune system that results in a decreased ability to fight infections.

Etymology

The term "Hyper-IgM syndrome type 2" is derived from the medical condition it describes. "Hyper" is a prefix from Greek origin meaning 'over' or 'excessive', "IgM" stands for Immunoglobulin M, a type of antibody, and "syndrome" is a collection of symptoms and signs of disease. "Type 2" indicates it is a subtype of the Hyper-IgM syndrome.

Definition

Hyper-IgM syndrome is a group of immune system disorders characterized by a defect in the protein CD40 ligand. The type 2 variant is caused by mutations in the Activation-Induced Cytidine Deaminase (AICDA) gene. This gene provides instructions for making an enzyme that is essential for the class switch recombination and somatic hypermutation processes of the immune response.

Symptoms

Patients with Hyper-IgM syndrome type 2 often present with recurrent bacterial infections, pneumonia, and sinusitis. They may also have an increased susceptibility to opportunistic infections due to the impaired immune response.

Diagnosis

Diagnosis of Hyper-IgM syndrome type 2 is based on clinical findings, low levels of IgG and IgA with normal or elevated levels of IgM in the blood, and genetic testing confirming a mutation in the AICDA gene.

Treatment

Treatment for Hyper-IgM syndrome type 2 typically involves immunoglobulin replacement therapy to boost the immune system, antibiotics to treat and prevent infections, and in severe cases, hematopoietic stem cell transplantation.

See also

External links

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