Diseases

The CPI works on a range of Immune Deficiency, Autoimmune and Autoinflammatory diseases. Some key examples of these include:

Systemic lupus erythematosus

A chronic autoimmune disease which has many different clinical manifestations including arthritis, pleurisy, mouth ulcers, rashes, blood clots, and nephritis. Laboratory abnormalities include autoantibodies (eg anti-double-stranded DNA antibodies), and evidence of antibody-mediated inflammation (low complement). The variation in clinical presentation from one SLE patient to another is substantial, raising the possibility that many different mechanisms might explain the disease.

Common variable immune deficiency

A cluster of diseases unified by the presence of antibody deficiency, which results in increased susceptibility to infections, especially pneumonia. Curiously, CVID is sometimes also complicated by autoimmunity, particularly affecting the blood cells. CVID can also be complicated by inflammatory lesions identical to those observed in sarcoidosis. Management of CVID requires lifelong antibody replacement with plasma products derived from healthy donors.

Systemic vasculitis

A group of rare and inflammatory diseases of the blood vessels. Although almost any organ can be affected, there is a predilection for kidney, lung and skin involvement. In some cases, vasculitis is associated with production of autoantibodies (eg anti-neutrophil cytoplasmic antibodies, or ANCA), but in others there is no conclusive evidence of autoimmunity. All forms of vasculitis are associated with profound and severe inflammation that requires treatment often with corticosteroids and cytotoxic agents.

Sarcoidosis

A disorder characterised by formation of granulomatous inflammation in the lymph nodes of the chest, salivary glands, skin, and sometimes other organs. In addition to inflammation, sarcoidosis is often associated with mild immune deficiency. In some cases, sarcoidosis is self-limited, but in others, long-term immunosuppression is required to prevent organ damage.