I know that it can be difficult receiving a diagnosis of APDS – then finding that you don’t know anyone else with the condition. It can feel isolating and frightening for patients. After a couple of patients and families approached me directly I have decided to set up a Facebook support group.
I’d love it if you applied to join. You can find the group here.
You are not alone.
This is a non-technical overview of APDS that covers questions commonly asked by patients with APDS.
What is Activated PI3 Kinase Delta Syndrome?
Activated PI3 Kinase Delta Syndrome (APDS) is a rare cause of immunodeficiency that can cause recurrent infections of the ear, sinuses, and lungs (sometimes called “pneumonia” or “bronchiectasis”). Some patients also suffer from severe infections by a type of virus caused by Herpesvirus, such as Chickenpox. These infections are so severe and so frequent that a doctor makes a diagnosis of “immunodeficiency”. Having had one nasty infection on one occasion is not enough – all the patients discovered so far have been registered with a specialist hospital clinic for patients with known immune problems.
How do I know if I have APDS?
Currently the only way to prove whether or not you have APDS is if your doctor organises genetic testing. For now, we are only recommending this in patients with Primary Immunodeficiency or Hyper-IgM Syndrome. If you have one of these diagnoses, consider asking your clinician at your next outpatient appointment.
If you are not already diagnosed with a Primary Immunodeficiency or Hyper-IgM Syndrome it is unlikely that you have the genetic mutation that causes APDS, and testing is not currently recommended.
How does APDS affect people?
APDS can affect different patients in different ways. The most common feature is being prone to severe infections that lead to having to come into hospital. However some patients may also have very severe infections from Chickenpox, an enlarged spleen, or swollen lymph nodes (“glands”).
Can I catch ADPS?
No. APDS is a genetic mutation, so can’t be transmitted like an infection. If one of your parents has APDS there is a 50% chance that you could inherit the mutation. Additionally some patients have healthy parents, but acquire the mutation through a random new mutation.
How can I find out more about APDS?
This website has been set up by a group of scientists who discovered APDS to provide education and resources for patients and doctors. If you have questions you can contact us by email and we’ll do our best to help out.
Learn about the APDS patient registry
The APDS patient registry is intended to advance the research and development of treatments, therapies and care for all those diagnosed with APDS.
APDS is currently thought to be a rare disease. Many specialist units will only look after a small number of patients – or perhaps only one – and if new treatments become available it could prove hard to spread information and knowledge rapidly to patients and doctors.
If potential new treatments are developed, this registry may be used to reach as many patients as possible to discuss participation in clinical studies.
We are in the process of conducting the consent, data protection and ethical review process necessary to begin recruitment to the APDS patient registry.
Please keep checking back!
The APDSyndrome team.