A20 haploinsufficiency (HA20)

A rare, inherited autoinflammatory disease caused by mutations in the TNFAIP3 gene, which codes for the A20 protein. When there is an insufficiency of the A20 protein, the pro-inflammatory NF-κB pathway is overactive. HA20 is characterised by a range of symptoms, most notably a Behçet's disease-like syndrome with recurrent oral, genital, and gastrointestinal ulcers, in addition to autoinflammatory features such as fevers, skin rash and joint pain. A20 also plays an important regulatory role in B cells, so insufficiency can result in autoimmune disease susceptibility and development of blood cancer (lymphoma).

Adult-Onset Still's Disease (AOSD)

See Still's disease

Amyloidosis

A group of rare diseases characterised by the abnormal accumulation of misfolded amyloid proteins in organs and tissues. This buildup disrupts normal function and can affect various organ systems, including the kidneys, heart, liver, nervous system, and gastrointestinal tract.

• AA amyloidosis (secondary amyloidosis): Caused by chronic inflammation and the overproduction of serum amyloid A (SAA) protein, which misfolds and deposits in organs.

• AL amyloidosis (primary amyloidosis): Caused by abnormal plasma cells producing misfolded immunoglobulin light chains that accumulate as amyloid fibrils. This form is often associated with multiple myeloma.

Ankylosing Spondylitis (AS)

A type of arthritis that primarily affects the spine and sacroiliac joints, causing pain and stiffness. Complications can occur with eye inflammation, bone deterioration and heart disease due to inflammation of the main heart artery (aorta).

Anti-neutrophil cytoplasmic antibody (ANCA)-associated vasculitis

Vasculitis is an inflammation of blood vessels. ANCA-associated vasculitis is an autoimmune disease rather than autoinflammatory because the body mistakenly targets white blood cells called neutrophils for destruction. That destructive process is behind the vasculitis.

ANZFAID

Australia and New Zealand Forum for AutoInflammatory Diseases.

Arthritis

Chronic inflammation of one or more joints, which can cause pain, swelling, stiffness, and loss of motion.

Autoimmune Diseases

Conditions involving the adaptive immune system (specific), that mistakenly targets something in the body as foreign and mounts an immune response to destroy it. That immune response adds inflammation to autoimmune diseases, but they are not autoinflammatory.

Autoinflammatory Diseases

Conditions involving the innate immune system (non-specific), that creates too much inflammation without cause. The inflammation itself is the underlying cause of symptoms that can appear anywhere in the body, such as fever, skin rash, headaches and joint pain.

Behçet's disease

A chronic inflammatory condition that can affect various parts of the body, including the mouth, genitals, skin, eyes, and joints.

Blau syndrome

A rare genetic autoinflammatory disease that causes inflammation of the joints, skin, and eyes. 

Biologic

A product made from living cells that is used to treat diseases.