JAMA

Abstract

IMPORTANCENewborn screening for severe combined immunodeficiency (SCID) using assays to detect T-cell receptor excision circles (TRECs) began in Wisconsin in 2008, and SCID was added to the national recommended uniform panel for newborn screened disorders in 2010. Currently 23 states, the District of Columbia, and the Navajo Nation conduct population-wide newborn screening for SCID. The incidence of SCID is estimated at 1 in 100 000 births.OBJECTIVESTo present data from a spectrum of SCID newborn screening programs, establish population-based incidence for SCID and other conditions with T-cell lymphopenia, and document early institution of effective treatments.DESIGNEpidemiological and retrospective observational study.SETTINGRepresentatives in states conducting SCID newborn screening were invited to submit their SCID screening algorithms, test performance data, and deidentified clinical and laboratory information regarding infants screened and cases with nonnormal results. Infants born from the start of each participating program from January 2008 through the most recent evaluable date prior to July 2013 were included. Representatives from 10 states plus the Navajo Area Indian Health Service contributed data from 3 030 083 newborns screened with a TREC test.MAIN OUTCOMES AND MEASURESInfants with SCID and other diagnoses of T-cell lymphopenia were classified. Incidence and, where possible, etiologies were determined. Interventions and survival were tracked.RESULTSScreening detected 52 cases of typical SCID, leaky SCID, and Omenn syndrome, affecting 1 in 58 000 infants (95%CI, 1/46 000-1/80 000). Survival of SCID-affected infants through their diagnosis and immune reconstitution was 87%(45/52), 92%(45/49) for infants who received transplantation, enzyme replacement, and/or gene therapy. Additional interventions for SCID and non-SCID T-cell lymphopenia included immunoglobulin infusions, preventive antibiotics, and avoidance of live vaccines. Variations in definitions and follow-up practices influenced the rates of detection of non-SCID T-cell lymphopenia.CONCLUSIONS AND RELEVANCENewborn screening in 11 programs in the United States identified SCID in 1 in 58 000 infants, with high survival. The usefulness of detection of non-SCID T-cell lymphopenias by the same screening remains to be determined.AI105776/AI/NIAID NIH HHS/United StatesFD003005-01/FD/FDA HHS/United StatesHHSN267200603430C/PHS HHS/United StatesHHSN27520080001C/PHS HHS/United StatesK08 AI103035/AI/NIAID NIH HHS/United StatesR01 AI078248/AI/NIAID NIH HHS/United StatesR01 AI078248/AI/NIAID NIH HHS/United StatesR01 AI105776/AI/NIAID NIH HHS/United StatesR03HD060311/HD/NICHD NIH HHS/United StatesR13 AI065141/AI/NIAID NIH HHS/United StatesR13 AI066891/AI/NIAID NIH HHS/United StatesR13 AI069762/AI/NIAID NIH HHS/United StatesR13 AI082823/AI/NIAID NIH HHS/United StatesR13 AI088855/AI/NIAID NIH HHS/United StatesR13 AI094943/AI/NIAID NIH HHS/United StatesR13 AI100548/AI/NIAID NIH HHS/United StatesR13-A1094943/PHS HHS/United StatesR18 AI048693/AI/NIAID NIH HHS/United StatesU01 AI1087628/AI/NIAID NIH HHS/United StatesU01 EH000362/EH/NCEH CDC HHS/United StatesU01 EH000365/EH/NCEH CDC HHS/United StatesU01 EH000454/EH/NCEH CDC HHS/United StatesU01 EH000936/EH/NCEH CDC HHS/United StatesU01 HL069254/HL/NHLBI NIH HHS/United StatesU24 AI086037/AI/NIAID NIH HHS/United StatesU24 CA076518/CA/NCI NIH HHS/United StatesU54 A1082973/PHS HHS/United StatesU54 AI082973/AI/NIAID NIH HHS/United StatesU54 NS064808/NS/NINDS NIH HHS/United StatesUL1 RR024131/RR/NCRR NIH HHS/United StatesUL1 TR000004/TR/NCATS NIH HHS/United StatesUL1 TR001079/TR/NCATS NIH HHS/United States2015-08-20T00:00:00Z25138334PMC449215