Hyper-IgM syndrome type 5

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Hyper-IgM syndrome type 5 (pronounced: Hyper-IgM syndrome type five) is a rare genetic disorder that affects the immune system.

Etymology

The term "Hyper-IgM syndrome type 5" is derived from the medical terminology. "Hyper" is a prefix from Greek, meaning 'over' or 'excessive'. "IgM" stands for Immunoglobulin M, a type of antibody produced by the immune system. The "type 5" refers to the specific genetic mutation that causes this variant of the syndrome.

Definition

Hyper-IgM syndrome type 5 is a condition that affects the immune system and results in a decreased ability to fight infections. This is due to a mutation in the URACIL-DNA GLYCOSYLASE (UNG) gene, which leads to a deficiency in class switch recombination, a process that is essential for the immune system to effectively fight off infections.

Symptoms

The symptoms of Hyper-IgM syndrome type 5 can vary, but often include frequent infections, particularly of the respiratory system. Other symptoms can include anemia, neutropenia, and an increased risk of autoimmune disorders and cancer.

Related Terms

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