The first haematopoietic cell transplant was performed at the University of Padua hospital after the diagnosis of severe immunodeficiency on a child born completely devoid of immune defenses and exposed to any potentially lethal infection. The problem was solved within 24 hours, thanks to timely screening, by transplanting his father Nicola’s stem cells onto the child.
A drop of blood from the heel
Since 2024, newborn screening has been introduced in Veneto: with a drop of blood from the heel of the newborn it is possible to identify some rare diseases between 48 and 72 hours of life before they manifest themselves. The diagnosis without extensive neonatal screening and without immediate treatment would have had an unfortunate prognosis for little Giacomo (this is the name of the first newborn saved from a lack of immune defenses).
What is Scid
The Scid from which the child was suffering is a rare disease that causes frequent serious infectious episodes. Late diagnosis before expanded neonatal screening brought with it not only a high risk of mortality, but also an equally high transplant risk. In Padua, after the first operation carried out on 15 June 1983, more than a thousand pediatric haematopoietic stem cell transplants were completed and 5,570 newborns underwent extensive neonatal screening.
