Newborn screening for severe combined immunodeficiency in 11 screening programs in the United States. Kwan, A., Abraham, R. S., Currier, R., Brower, A., Andruszewski, K., Abbott, J. K., Baker, M., Ballow, M., Bartoshesky, L. E., Bonilla, F. A., Brokopp, C., Brooks, E., Caggana, M., Celestin, J., Church, J. A., Comeau, A. M., Connelly, J. A., Cowan, M. J., Cunningham-Rundles, C., Dasu, T., Dave, N., De La Morena, M. T., Duffner, U., Fong, C., Forbes, L., Freedenberg, D., Gelfand, E. W., Hale, J. E., Hanson, I. C., Hay, B. N., Hu, D., Infante, A., Johnson, D., Kapoor, N., Kay, D. M., Kohn, D. B., Lee, R., Lehman, H., Lin, Z., Lorey, F., Abdel-Mageed, A., Manning, A., McGhee, S., Moore, T. B., Naides, S. J., Notarangelo, L. D., Orange, J. S., Pai, S., Porteus, M., Rodriguez, R., Romberg, N., Routes, J., Ruehle, M., Rubenstein, A., Saavedra-Matiz, C. A., Scott, G., Scott, P. M., Secord, E., Seroogy, C., Shearer, W. T., Siegel, S., Silvers, S. K., Stiehm, E. R., Sugerman, R. W., Sullivan, J. L., Tanksley, S., Tierce, M. L., Verbsky, J., Vogel, B., Walker, R., Walkovich, K., Walter, J. E., Wasserman, R. L., Watson, M. S., Weinberg, G. A., Weiner, L. B., Wood, H., Yates, A. B., Puck, J. M., & Bonagura, V. R. JAMA, 312(7):729–738, August, 2014.
doi  abstract   bibtex   
IMPORTANCE: Newborn 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. OBJECTIVES: To 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. DESIGN: Epidemiological and retrospective observational study. SETTING: Representatives 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 MEASURES: Infants with SCID and other diagnoses of T-cell lymphopenia were classified. Incidence and, where possible, etiologies were determined. Interventions and survival were tracked. RESULTS: Screening 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 RELEVANCE: Newborn 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.
@article{kwan_newborn_2014,
	title = {Newborn screening for severe combined immunodeficiency in 11 screening programs in the {United} {States}},
	volume = {312},
	issn = {1538-3598},
	doi = {10.1001/jama.2014.9132},
	abstract = {IMPORTANCE: Newborn 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.
OBJECTIVES: To 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.
DESIGN: Epidemiological and retrospective observational study.
SETTING: Representatives 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 MEASURES: Infants with SCID and other diagnoses of T-cell lymphopenia were classified. Incidence and, where possible, etiologies were determined. Interventions and survival were tracked.
RESULTS: Screening 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 RELEVANCE: Newborn 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.},
	language = {eng},
	number = {7},
	journal = {JAMA},
	author = {Kwan, Antonia and Abraham, Roshini S. and Currier, Robert and Brower, Amy and Andruszewski, Karen and Abbott, Jordan K. and Baker, Mei and Ballow, Mark and Bartoshesky, Louis E. and Bonilla, Francisco A. and Brokopp, Charles and Brooks, Edward and Caggana, Michele and Celestin, Jocelyn and Church, Joseph A. and Comeau, Anne Marie and Connelly, James A. and Cowan, Morton J. and Cunningham-Rundles, Charlotte and Dasu, Trivikram and Dave, Nina and De La Morena, Maria T. and Duffner, Ulrich and Fong, Chin-To and Forbes, Lisa and Freedenberg, Debra and Gelfand, Erwin W. and Hale, Jaime E. and Hanson, I. Celine and Hay, Beverly N. and Hu, Diana and Infante, Anthony and Johnson, Daisy and Kapoor, Neena and Kay, Denise M. and Kohn, Donald B. and Lee, Rachel and Lehman, Heather and Lin, Zhili and Lorey, Fred and Abdel-Mageed, Aly and Manning, Adrienne and McGhee, Sean and Moore, Theodore B. and Naides, Stanley J. and Notarangelo, Luigi D. and Orange, Jordan S. and Pai, Sung-Yun and Porteus, Matthew and Rodriguez, Ray and Romberg, Neil and Routes, John and Ruehle, Mary and Rubenstein, Arye and Saavedra-Matiz, Carlos A. and Scott, Ginger and Scott, Patricia M. and Secord, Elizabeth and Seroogy, Christine and Shearer, William T. and Siegel, Subhadra and Silvers, Stacy K. and Stiehm, E. Richard and Sugerman, Robert W. and Sullivan, John L. and Tanksley, Susan and Tierce, Millard L. and Verbsky, James and Vogel, Beth and Walker, Rosalyn and Walkovich, Kelly and Walter, Jolan E. and Wasserman, Richard L. and Watson, Michael S. and Weinberg, Geoffrey A. and Weiner, Leonard B. and Wood, Heather and Yates, Anne B. and Puck, Jennifer M. and Bonagura, Vincent R.},
	month = aug,
	year = {2014},
	pmid = {25138334},
	pmcid = {PMC4492158},
	pages = {729--738},
}
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