Newborn Screening for SCID Identifies Patients with Ataxia Telangiectasia

• DOI: 10.1007/s10875-012-9846-1
• Publication Date: 2012-12-19T02:32:17Z
• Authors: Jacob Mallott; Antonia Kwan; Joseph Church; Diana Gonzalez-Es...; Fred Lorey; Ling Fung Tang; Uma Sunderam; Sadhna Rana; Rajgopal Srinivasan; Steven E. Brenner; Jennifer Puck
• Keywords: Lymphocytopenia; Nijmegen breakage syndrome

Abstract Purpose Severe combined immunodeficiency (SCID) is characterized by failure of T lymphocyte development and absent or very low cell receptor excision circles (TRECs), DNA byproducts maturation. Newborn screening for TRECs to identify SCID now performed in several states using PCR from universally collected dried blood spots (DBS). In addition infants with typical SCID, TREC identifies lymphocytopenia who appear healthy whom a diagnosis cannot be confirmed. Deep sequencing was employed find causes such infants. Methods Whole exome analysis were their parents. Upon finding deleterious mutations the ataxia telangiectasia mutated ( ATM ) gene, we confirmed (AT) two then tested archival newborn DBS additional AT patients copy number. Results Exome led 2 unsuspected gene diagnoses AT. Of 13 older had been stored, 7 samples positive under criteria California’s program. children neonatal CD4 counts subsequently detected R = 0.64). Conclusions newborns can feature AT, as revealed sequencing. Although there no current cure progressive neurological impairment early detection permits avoidance infectious complications, while providing information families regarding reproductive recurrence risks increased cancer carriers.