The discovery
Primary immunodeficiencies (PID) are very severe diseases. Among them are ADA (adenosine deaminase deficiency) and PNP (purine nucleoside phosphorilase deficiency), which are at least 20% of all immunodeficiencies.  
All PID can be fatal if diagnosis is not made early.  
A child with primary immunodeficiency is usually diagnosed because of a very severe infection like meningitis or encephalitis. At that time, when diagnosis is made, permanent damages due to the severe infection can already be present.
Curative therapies, like bone marrow transplantation or gene therapy, are available but to be effective the therapies need to be performed in the first months of life to be effective.

Our aim was to develop a method able to diagnose of different forms of PID at birth before severe infections have already caused permanent damage. Our second aim was to develop a method to identify the PID at a low cost so that all countries in the world can afford it.
Therefore  we developed a method that can identify some PID at birth on the dried blood spot taken at birth for routine newborn screening (such as hypothyroidism or phenylketonuria, PKU).
Since the method we developed uses the same instruments, the same operators and the same shipping procedure already used for all the other newborn screenings, the cost of the test to identify ADA and PNP immunodeficiencies is not expensive, and it’s less than 0.05€ per test.
The established screening method for PID, based on genetic analysis, is used if available, but is more expensive and unaffordable  for many countries in the world.

The ongoing project
We have started to use the method in Tuscany in 2011 and we have already tested 50,000  newborns. In every case where the method saw an abnormal result, the child was very affected  and the diagnosis was confirmed with genetic analysis. A child with ADA deficiency was found  
and he is now followed for his disease.
We have published the results of our research in the most famous medical journal for immunodeficiency (
Researchers from other countries in the world have asked us to teach them the method and we have already had the opportunity to share our data and teach them our method.

The “Help the Children Florence” project: Research continues
The first aim of the project is to extend the possibility of diagnosis to other forms of PID, using low-cost methods. At the same time we will do our best to spread our results and knowledge to other regions in Italy and other countries in the world so that other children with PID will have the opportunity to be diagnosed as early as possible, have an early therapy, and a normal life.

The money donated will be used to make a diagnosis of PID in Italy and extend the method in other countries in the world.

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