Identification of 22q11.2 deletion syndrome via newborn screening for severe combined immunodeficiency. Two years' experience in Catalonia (Spain).
Andrea Martin-NaldaAnna M Cueto-GonzálezAna Argudo-RamírezJose L Marin-SoriaMonica Martinez-GalloRoger ColobranAlbert PlajaNeus CastellsJacques RiviereEduardo F TizzanoPere Soler-PalacinPublished in: Molecular genetics & genomic medicine (2019)
Newborn screening for SCID enables detection of several conditions, such as 22q syndromes, which should be managed by prompt, proactive approaches with adequate counseling for families by a multidisciplinary team.