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Frequently Asked Questions
Frequently Asked Questions
What is Activated P13K delta syndrome (APDS)?
APDS is a Primary Immunodeficiency (PID) where white blood cells in the immune system don’t work correctly, particularly ones that are called B cells and T cells. Normally, these cells recognise and attack viruses and bacteria to prevent infection. In patients with APDS, the white blood cells are abnormal so patients suffer from frequent infections in the lungs, nose (sinuses) and ears, and can be at greater risk of developing conditions linked with the overproduction of white blood cells (such as swollen lymph nodes and lymphoma).
How many people around the world suffer from APDS?
APDS affects approximately 1 – 2 people per million and is considered a rare disease.
How do you get APDS?
APDS is a genetic condition and it occurs when there is an abnormal change in either one of two specific genes, the PIK3CD gene or the PIK3R1 gene. The genes are inherited, which means that other family members may also have the same genetic condition. Symptoms of APDS can vary, even within families carrying the same condition.
When do people start to suffer from the symptoms of APDS? NOTE:
APDS symptoms usually begin in early childhood as frequent infections, particularly of the lungs, sinuses, and ears.
Over time, repeated lung infections often lead to a condition called bronchiectasis, where the airways become inflamed and scarred, resulting in a build-up of mucus, persistent cough, and breathing problems which make the lungs even more prone to infection. It is understood that B and T-lymphocytes are also produced faster than normal, causing them to clump together in the
lymph nodes and spleen, making them large, and resulting in conditions called lymphadenopathy and splenomegaly.
Clumps in the airways and abdomen lead to nodular lymphoid hyperplasia. APDS also increases the risk of developing a form of blood cancer called B-cell lymphoma. In some instances, patients have experienced neurological dysfunction causing cognitive delay and short syndrome.
Abnormal B- and T-cells can also mistakenly attack normal body cells; this is known as autoimmunity, which may result in conditions such as anemia or low platelet counts where the body cannot form blood clots and can cause severe bleeding. In some cases, patients may appear to develop autoimmune disease of an inflammatory nature.
How do I know if I have APDS?
Patients are often misdiagnosed with other Primary Immunodeficiency diseases such as Common Variable Immunodeficiency (CIVD) and Hyper-IgM before a confirmed APDS diagnosis is made. A suspicion of APDS may be observed by a doctor through laboratory tests and flow cytometry, though a confirmed diagnosis can only be made following a genetic test.
Living with APDS
Lifestyle adjustments may be necessary for many APDS patients and will depend on the severity of symptoms. Reducing exposure to potential community and environmental risks where bacteria and viruses are present is often required. Regular contact with your treating physician is encouraged.
Clinical trials are currently underway for potential treatments that may help to correct the genetic abnormalities that cause APDS.