Severe immunodeficiency syndromes: 3 out of 4 children are not diagnosed in time

Detecting a rare disease is always a ‘medicine detective’ job and even more so in children when the signals can be really imperceptible and difficult to detect. An example of this is what happens for some serious forms of immunodeficiency on a genetic basis: one child in 50 thousand, with newborn screenings, suffers from it, however, for each diagnosed case, three are not recognized in time and die within the first year of life. .