What is mevalonate kinase deficiency?
Mevalonate kinase deficiency (MKD) is a rare genetic autoinflammatory disorder. Autoinflammatory syndromes are a group of disorders characterized by seemingly random or unprovoked episodes of inflammation generally due to an abnormality of the innate immune system.
What is autoinflammatory disease?
Autoinflammatory diseases refer to problems with the innate immune system’s reactions. Immune cells target the body’s own healthy tissues by mistake, signaling the body to attack them. This can cause intense episodes of inflammation that result in such symptoms as fever, rash, or joint swelling.
What is Hida syndrome?
Mevalonate kinase deficiency (MVK), formerly called hyperimmunoglobulin D Syndrome (HIDS) is a genetic syndrome that results in episodes of high fever with skin rash, swollen lymph nodes in the neck, mouth sores, abdominal pain, vomiting, diarrhea and joint pain with swelling.
How common is Hids?
It’s rare, but you can have a buildup of protein deposits in certain organs, including your kidneys. This condition, called amyloidosis, can lead to kidney failure. Most people with HIDS have high blood levels of certain immune system proteins called immunoglobulin D (IgD) and immunoglobulin A (IgA).
What triggers autoinflammatory?
Autoinflammatory diseases are caused by genetic mutations in molecules that are involved in regulating the innate immune response-a “hard wired” defense system that evolved to quickly recognize and act against infectious agents and other danger signals produced by our bodies.
What is the difference between autoimmune and autoinflammatory?
Autoimmunity is used to cause by impairment of adaptive immunity alone, whereas autoinflammatory was originally defined as a consequence of unregulated innate immunity. So, the pathogenetic mechanisms of autoimmune diseases were well-thought-out to be mediated by B and T lymphocytes.
What is the difference between autoimmune disease and autoinflammatory?
Autoimmune diseases involve the adaptive immune system, while autoinflammatory diseases involve the innate immune system.
What viruses cause autoimmune?
Table 1
| Autoimmune Disease | Virus | Proposed Mechanism |
|---|---|---|
| Autoimmune myocarditis | Coxsackievirus B3 | Bystander activation |
| Autoimmune thyroiditis | Human herpesvirus 6A (HHV-6A) | – |
| Cryoglobulinemia | Hepatitis C virus | – |
| Encephalitis (Human herpes encephalitis) | Herpes simplex virus | Molecular mimicry |
What is HIDS disease?
Mevalonate kinase deficiency is a spectrum of disease, ranging from more mild to severe complications. Hyper IgD syndrome (HIDS) is part of this spectrum and is characterized by episodes or “attacks” of fever associated with other symptoms including joint pain (arthralgia), muscle pain (myalgia), skin rash and abdominal pain.
What medications are used to treat mevalonate kinase deficiency?
Several other medications have been used in people with mevalonate kinase deficiency. Colchicine is a medication that reduces inflammation and has been effective in other periodic fever syndromes, but has, generally, been ineffective in mevalonate kinase deficiency.
Can you have high IgD without mevalonate kinase deficiency?
Some people can also have elevated levels of IgD without having HIDS or mevalonate kinase deficiency. Mevalonate kinase deficiency affects males and females in equal numbers.
How many exons are there in mevalonate kinase?
The gene which codes for mevalonate kinase consists of 10 exons at locus 12q14. About 63 pathological sequence variations in the gene have been characterized. The most common of these are V377I, I268T, H20P/N and P167L, present in 70% of affected individuals.