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Diseases. 

At the Centre for Personalised Immunology we research a number of diseases, some of which are listed on this page. If you or your patient would like to be involved in research at the centre, please contact us today.

Disclaimer: Information on this page is not intended to replace medical advice and any questions regarding a medical diagnosis or treatment should be directed to a medical practitioner.

Autoimmunity
​

Systemic Lupus Erythematosus (SLE)

About
Systemic Lupus Erythematosus (SLE), more commonly known as lupus, is a chronic autoimmune disease with a broad range of clinical manifestations. It is characterised by acute and chronic inflammation in various tissues of the body including the skin, joints, kidneys, brain and other organs. 

The signs and symptoms of lupus are not present all the time and vary from person to person. This makes diagnosis difficult as the symptoms can mimic other illnesses resulting in misdiagnosis.

It is estimated to affect more than 17,000 Australians and around 5 million people in the world.

Dermatomyositis (DM)

About
Dermatomyositis is one of a group of acquired muscle diseases called inflammatory myopathies (disorder of muscle tissue or muscles), which are characterised by chronic muscle inflammation accompanied by muscle weakness. 

Dermatomyositis may occur at any age, but is most common in adults in their late 40s to early 60s, or children between 5 and 15 years of age.

​
There is no cure for dermatomyositis, but the symptoms can be treated.
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Polyglandular autoimmunity

About​
Syndrome type 1 (APS-1) is a rare and complex recessively inherited disorder of immune-cell dysfunction with multiple autoimmunities.  It presents as a group of symptoms including potentially life-threatening endocrine gland and gastrointestinal dysfunctions.

Syndrome type 2 is an autoimmune disorder that affects many hormone-producing (endocrine) glands.[1] It is characterized by the presence of Addison's disease along with autoimmune thyroid disease and/or type 1 diabetes

​Glomerulonephritis (Autoimmune Kidney Disease)

About
The kidney's most important function in the body is to act as the filter of the body and remove wastes in the blood whilst keeping blood cells and protein in the bloodstream. It does this by using a tiny set of looping blood vessels called the glomerulus (plural
glomeruli).

​In autoimmune kidney disease, the immune system starts to attack the kidneys instead of protecting the body from invading microbes and infection. These glomeruli become inflamed with swelling and scarring, reducing the kidney’s ability to filter waste from the blood, leading to blood and protein to be lost through urine. 

Diabetes - Type I

About
Type 1 diabetes is an auto-immune condition in which the immune system is activated to destroy the cells in the pancreas which produce insulin. We do not know what causes this auto-immune reaction. Type 1 diabetes is not linked to modifiable lifestyle factors. 

Sjögren’s Syndrome

About
Sjögren’s (“show-grins”) syndrome is a systemic autoimmune disease in which the immune system mistakenly attacks and destroys the moisture producing glands in the body. The most common symptoms are dry eyes and mouth. In more serious cases it can cause the dysfunction of other organs, including the kidneys, gastrointestinal tract, blood vessels, lungs, liver, pancreas and/or the central nervous system. There is also an increased risk of developing lymphoma, a cancer of immune cells, lymphocytes, which are a type of white blood cell.

Primary Immune Deficiencies 
​

Common Variable Immunodeficiency (CVID)

About
Common Variable Immunodeficiency (CVID) is the most frequently diagnosed primary immunodeficiency disease, where a part of the immune system is absent or dysfunctional. In people with CVID, the B cells are affected. B cells are a specialised white blood cell in the immune system that protects the body from infection. When B cells mature, they produce proteins called antibodies (or immunoglobulins). These antibodies can recognise patterns on foreign particles (eg viruses) and form an important part of the immune response. CVID is characterised by dysfunctional B cells that cannot make sufficient amounts of certain immunoglobulins/antibodies

CVID is found in about 1 in 25,000 people and affects both males and females equally. 

Severe Combined Immunodeficiency (SCID)

About
​SCID is a rare inherited primary immunodeficiency disorder that appears during infancy. The immune system is composed of white blood cells of which half are T cells. These T cells play a vital role in fighting infection. They also assist another type of white blood cell known as B cells to produce antibodies (or immunoglobulins). These T and B cells do not function properly in individuals with SCID. In many cases, the affected individual is born with no T cells at all. Without T cells the B cells cannot make antibodies.

Combined Immune Deficiencies (CID)

​About​
Combined immunodeficiency or CID is a genetic condition of the immune system. It's known as a "primary immunodeficiency." Children inherit the gene for CID from their parents. CID occurs when gene mutations cause defects in the immune system.

​​Sarcoidosis

About
​​Sarcoidosis is a disease involving abnormal collections of inflammatory cells that form lumps known as granulomas. The disease usually begins in the lungs, skin, or lymph nodes. Less commonly affected are the eyes, liver, heart, and brain. Any organ, however, can be affected.

Systemic Vasculitis
​

ANCA-associated Vasculitis

​About​
The vasculitides are a heterogeneous group of diseases that are characterized by blood vessel inflammation and necrosis. They have a wide spectrum of manifestations due to the involvement of arteries and other vessels of various sizes and locations.

Antineutrophil cytoplasmic antibody (ANCA)-associated vasculitis (AAV) is a group of diseases (granulomatosis with polyangiitis, eosinophilic granulomatosis with polyangiitis and microscopic polyangiitis), characterized by destruction and inflammation of small vessels

Anti-Glomerular Basement Membrane disease

About​​
Anti-GBM disease is a disease that occurs as a result of injury to small blood vessels (capillaries) in the kidneys and/or lungs. Autoantibodies are antibodies directed toward the body itself (rather than towards something foreign such as bacteria or viruses).

Haemophagocytic Lymphohistiocytosis (HLH)

About
HLH is a rare disorder of the immune system where there is an over-production and activation of normal immune cells. These over activated immune cells cause inflammation and damage of healthy tissues including the liver, spleen, brain and other tissues.

Left untreated, affected individuals survive for around two months due to progressive multi-organ failure.

Familial HLH is estimated to occur in 1 in 50,000 individuals worldwide, and affects males and females equally.

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  • Home
  • About
    • Stories
    • Research >
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