The successful inclusion of ADA SCID in Tuscany expanded newborn screening program

Adenosine deaminase (ADA) deficiency is a known cause for severe combined immunodeficiency (SCID). Various ADA deficiency phenotypes have been described depending on the clinical onset and on the severity of the disease. We report a new case of ADA-deficient patient with delayed-onset identified by Tuscany newborn screening program with tandem mass spectrometry method while both TRECs and KRECs repeatedly proved to be within normal limits.