Where are we now

DADA2 is a rare genetic disorder of the immune system discovered very recently (in 2014) and due to an enzyme deficiency, adenosine deaminase type 2 (ADA2).
The disease generally manifests itself in the first years of life, but sometimes it has a slower evolution and becomes more evident during the following years. In addition to the immune deficiency typical of immunodeficiencies, DADA2 is also aggravated by the risk of having recurrent stroke, severe systemic inflammation and damage to many tissues and organs of the body.

How many people are we talking about?

In 2017, 3 years after the first description, there were 81 patients diagnosed with DADA2; the following year the number had already risen to 350, five times higher. As often happens, lack of knowledge leads to under-diagnose such rare and complex diseases.


What happens to people with DADA2?

Today the number of known patients is very small, so we still have a lot to learn about the symptoms and the biology of the disease.
We know that there is a lot of variability, sometimes even within the same family.
Most patients have a patchy rash, called livedo reticularis or livedo racemosa, or a vasculitis, and in some cases even an irregular rash.
Many have symptoms of systemic inflammation such as fever, anemia, joint pain and fatigue.
Some have recurrent strokes or cerebral haemorrhages since childhood, as well as immunodeficiency.
Other symptoms may include hypertension, enlarged liver and spleen, gastrointestinal problems, swollen lymph nodes and renal dysfunction.
The manifestations of the bone marrow, in particular neutropenia due to insufficient production, place the patient at high risk of severe infections and poor prognosis and make bone marrow transplantation necessary.