A girl who developed severe BCGitis and vaccine-derived poliovirus infection was discovered to have a novel deletion of RAG1. A neonatal screening program for SCID would identify affected infants at birth, before live vaccines are administered.
ButtinelliGDonatiVFioreS. Nucleotide variation in Sabin type 2 poliovirus from an immunodeficient patient with poliomyelitis. J Gen Virol2003; 84(Pt 5):1215–21.
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Sadeghi-ShabestariMRezaeiN. Disseminated bacille Calmette-Guérin in Iranian children with severe combined immunodeficiency. Int J Infect Dis2009; 13(6):e420–3.
Health Resources and Services Administration. Secretary's advisory committee on heritable disorders in newborns and children. Resolution from the 20th meeting, January 22, 2010; Washington DC. Available at: http://www.hrsa.gov/heritabledisorderscommittee/.
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LipsteinEAVoronoSBrowningMF. Systematic evidence review of newborn screening and treatment of severe combined immunodeficiency. Pediatrics2010; 125:e1226–35.
8.
la MarcaGCanessaCGiocaliereE. Tandem mass spectrometry but not TREC levels identifies delayed-onset ADA-deficiency at birth through dried blood spot analysisJ Allergy Clin Immunol2012; epub doi: 10.1016/j.jaci.
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AzzariCla MarcaGRestiM. Neonatal screening for severe combined immunodeficiency caused by an adenosine deaminase defect: A reliable and inexpensive method using tandem mass spectrometryJ Allergy Clin Immunol2011; 127:1394–99.
