Lo screening neonatale delle immunodeficienze severe combinate

Abstract

Severe combined immunodeficiency (SCID) is a group of letal rare disease, which can be cured when diagnosed very early in the life. Different methods have been suggested for neonatal screening of SCID, from white blood cell count (inexpensive, but associated to low sensitivity and specificity), to IL7 plasma level evaluation (normally increased in SCID patients). Recently quantitative analysis of TRECs (by-product of VDJ recombination) has been suggested as the candidate method for neonatal screening. TRECs analysis has good sensitivity and specificity but it still has a high cost per patient. Tandem mass spectrometry is absolutely not-expensive but its use is, at present, limited to few variants of SCID.