What is the Cause of Hyper-IgD Syndrome (HIDS)?
Hyper-IgD syndrome (HIDS) is an autoinflammatory disorder primarily caused by specific genetic mutations.
The Genetic Origin of Hyper-IgD Syndrome
The root cause of Hyper-IgD syndrome is mutations in the mevalonate kinase (MVK) gene. This genetic defect leads to a deficiency in the mevalonate kinase enzyme, which is why HIDS is also known as mevalonate kinase deficiency (MKD).
- Autosomal Recessive Inheritance: HIDS is an autosomal recessive disorder. This means that for an individual to develop the syndrome, they must inherit two copies of the mutated MVK gene—one from each parent. If someone inherits only one mutated copy, they are typically a carrier of the gene but do not exhibit symptoms of the condition.
- Autoinflammatory Nature: The disorder is classified as an autoinflammatory condition. This indicates that the body's innate immune system, its first line of defense against perceived threats, becomes overactive and inappropriately triggers inflammation. This leads to recurrent episodes of fever and other systemic inflammatory symptoms. The MVK gene plays a vital role in the mevalonate pathway, which is essential for cholesterol synthesis and other critical cellular functions. Disruptions in this pathway due to the gene mutation are believed to contribute to the uncontrolled inflammatory responses observed in HIDS.
Key Aspect | Description |
---|---|
Primary Cause | Mutations in the mevalonate kinase (MVK) gene |
Inheritance Pattern | Autosomal Recessive |
Classification | Autoinflammatory Disorder |
Also Known As | Mevalonate Kinase Deficiency (MKD) |
Understanding the genetic basis of HIDS is fundamental for accurate diagnosis, genetic counseling for affected families, and the development of targeted therapeutic strategies aimed at managing the inflammatory episodes. For further information on Hyper-IgD syndrome, you can explore resources from organizations like the National Institutes of Health (NIH).