Newborn Screening for Severe Combined Immunodeficiency in 11 Screening Programs in the United States

Details

• Alternative Title:
  JAMA
• Personal Author:
  Kwan, Antonia ; Abraham, Roshini S. ; Currier, Robert ; Brower, Amy ; Andruszewski, Karen ; Abbott, Jordan K. ; Baker, Mei ; Ballow, Mark ; Bartoshesky, Louis E. ; Bonagura, Vincent R. ; Bonilla, Francisco A. ; Brokopp, Charles ; Brooks, Edward ; Caggana, Michele ; Celestin, Jocelyn ; Church, Joseph A. ; Comeau, Anne Marie ; Connelly, James A. ; Cowan, Morton J. ; Cunningham-Rundles, Charlotte ; Dasu, Trivikram ; Dave, Nina ; De La Morena, Maria T. ; Duffner, Ulrich ; Fong, Chin-To ; Forbes, Lisa ; Freedenberg, Debra ; Gelfand, Erwin W. ; Hale, Jaime E. ; Celine Hanson, I. ; Hay, Beverly N. ; Hu, Diana ; Infante, Anthony ; Johnson, Daisy ; Kapoor, Neena ; Kay, Denise M. ; Kohn, Donald B. ; Lee, Rachel ; Lehman, Heather ; Lin, Zhili ; Lorey, Fred ; Abdel-Mageed, Aly ; Manning, Adrienne ; McGhee, Sean ; Moore, Theodore B. ; Naides, Stanley J. ; Notarangelo, Luigi D. ; Orange, Jordan S. ; Pai, Sung-Yun ; Porteus, Matthew ; Rodriguez, Ray ; Romberg, Neil ; Routes, John ; Ruehle, Mary ; Rubenstein, Arye ; Saavedra-Matiz, Carlos A. ; Scott, Ginger ; Scott, Patricia M. ; Secord, Elizabeth ; Seroogy, Christine ; Shearer, William T. ; Siegel, Subhadra ; Silvers, Stacy K. ; Stiehm, E. Richard ; Sugerman, Robert W. ; Sullivan, John L. ; Tanksley, Susan ; Tierce, Millard L. ; Verbsky, James ; Vogel, Beth ; Walker, Rosalyn ; Walkovich, Kelly ; Walter, Jolan E. ; Wasserman, Richard L. ; Watson, Michael S. ; Weinberg, Geoffrey A. ; Weiner, Leonard B. ; Wood, Heather ; Yates, Anne B. ; Puck, Jennifer M.
• Description:
  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.
  
  
• Keywords:
  Female Humans Incidence Infant, Newborn Lymphopenia Male Neonatal Screening Prognosis Receptors, Antigen, T-Cell Retrospective Studies Severe Combined Immunodeficiency Survival Analysis T-Lymphocytes United States

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• Source:
  JAMA. 312(7):729-738
• Pubmed ID:
  25138334
• Pubmed Central ID:
  PMC4492158
• Document Type:
  Journal Article
• Funding:
  R13-A1094943/PHS HHSUnited States/ ; R03HD060311/HD/NICHD NIH HHSUnited States/ ; R13 AI094943/AI/NIAID NIH HHSUnited States/ ; UL1 TR001079/TR/NCATS NIH HHSUnited States/ ; U01 EH000936/EH/NCEH CDC HHSUnited States/ ; U24 CA076518/CA/NCI NIH HHSUnited States/ ; AI105776/AI/NIAID NIH HHSUnited States/ ; UL1 RR024131/RR/NCRR NIH HHSUnited States/ ; U24 AI086037/AI/NIAID NIH HHSUnited States/ ; U01 EH000454/EH/NCEH CDC HHSUnited States/ ; R03 HD060311/HD/NICHD NIH HHSUnited States/ ; R13 AI088855/AI/NIAID NIH HHSUnited States/ ; R13 AI065141/AI/NIAID NIH HHSUnited States/ ; U54 A1082973/PHS HHSUnited States/ ; R01 AI078248/AI/NIAID NIH HHSUnited States/ ; FD003005-01/FD/FDA HHSUnited States/ ; U54 AI082973/AI/NIAID NIH HHSUnited States/ ; U01 HL069254/HL/NHLBI NIH HHSUnited States/ ; R01 FD003005/FD/FDA HHSUnited States/ ; U01 AI1087628/AI/NIAID NIH HHSUnited States/ ; K08 AI103035/AI/NIAID NIH HHSUnited States/ ; HHSN267200603430C/PHS HHSUnited States/ ; R13 AI082823/AI/NIAID NIH HHSUnited States/ ; U01 EH000365/EH/NCEH CDC HHSUnited States/ ; R18 AI048693/AI/NIAID NIH HHSUnited States/ ; U54 NS064808/NS/NINDS NIH HHSUnited States/ ; R01 AI105776/AI/NIAID NIH HHSUnited States/ ; U01 EH000362/EH/NCEH CDC HHSUnited States/ ; UL1 TR000004/TR/NCATS NIH HHSUnited States/ ; R13 AI066891/AI/NIAID NIH HHSUnited States/ ; HHSN27520080001C/PHS HHSUnited States/ ; R13 AI100548/AI/NIAID NIH HHSUnited States/ ; R13 AI069762/AI/NIAID NIH HHSUnited States/
• Volume:
  312
• Issue:
  7
• Collection(s):
  CDC Public Access
• Main Document Checksum:
  urn:sha256:938e2ec8d281ea815b52aa21aceee79596dbe2c536a18fb0cac2df43a8ca127f
• Download URL:
  https://stacks.cdc.gov/view/cdc/32023/cdc_32023_DS1.pdf
• File Type:
  [PDF - 301.28 KB ]