Hyperimmunoglobulin D Syndrome/Mevalonate Kinase Deficiency (HIDS/MKD)

A rare, recessive, autoinflammatory disease caused by mutations in the MVK gene, often associated with elevated IgD in blood tests, characterised by periodic episodes of fever, skin rash, headaches and joint pain.

Idiopathic 

The exact cause of the disease is unknown.

Immune System

The body's natural two-part defence system that protects against any material foreign to the body. The first response is the innate immune system, followed by the adaptive immune system.

Immunologist

A medical doctor who specialises in the diagnosis, treatment, and management of diseases and disorders related to the immune system.

Inflammation

The body's protective first immune response that results in heat, pain, redness, and swelling.

Injection

Also referred to as a "shot" or a “needle”, an injection puts medication into the body using a syringe.

Interleukin-1 beta (IL-1β)

A signalling protein known as a cytokine that signals the body to increase inflammation.

Juvenile Arthritis (JA)

A medical condition that occurs in children under the age of 16 and involves swelling in 1 or more joints lasting at least 6 weeks.


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