Newborn screening for severe combined immunodeficiency in 11 screening programs in the United States

Antonia Kwan, Roshini S. Abraham, Robert Currier, Amy Brower, Karen Andruszewski, Jordan K. Abbott, Mei Baker, Mark Ballow, Louis E. Bartoshesky, Francisco A. Bonilla, Charles Brokopp, Edward Brooks, Michele Caggana, Jocelyn Celestin, Joseph A. Church, Anne Marie Comeau, James A. Connelly, Morton J. Cowan, Charlotte Cunningham-Rundles, Trivikram Dasu & 59 others Nina Dave, Maria T. De La Morena, Ulrich Duffner, Chin To Fong, Lisa Forbes, Debra Freedenberg, Erwin W. Gelfand, Jaime E. Hale, I. Celine Hanson, Beverly N. Hay, Diana Hu, Anthony Infante, Daisy Johnson, Neena Kapoor, Denise M. Kay, Donald B. Kohn, Rachel Lee, Heather Lehman, Zhili Lin, Fred Lorey, Aly Abdel-Mageed, Adrienne Manning, Sean McGhee, Theodore B. Moore, Stanley J. Naides, Luigi D. Notarangelo, Jordan S. Orange, Sung Yun Pai, Matthew Porteus, Ray Rodriguez, Neil Romberg, John Routes, Mary Ruehle, Arye Rubenstein, Carlos A. Saavedra-Matiz, Ginger Scott, Patricia M. Scott, Elizabeth Secord, Christine Seroogy, William T. Shearer, Subhadra Siegel, Stacy K. Silvers, E. Richard Stiehm, Robert W. Sugerman, John L. Sullivan, Susan Tanksley, Millard L. Tierce, James Verbsky, Beth Vogel, Rosalyn Walker, Kelly Walkovich, Jolan E. Walter, Richard L. Wasserman, Michael S. Watson, Geoffrey A. Weinberg, Leonard B. Weiner, Heather Wood, Anne B. Yates, Jennifer M. Puck

Research output: Contribution to journalArticle

267 Citations (Scopus)

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.

Original languageEnglish (US)
Pages (from-to)729-738
Number of pages10
JournalJAMA - Journal of the American Medical Association
Volume312
Issue number7
DOIs
StatePublished - Aug 20 2014

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Severe Combined Immunodeficiency
Newborn Infant
Lymphopenia
T-Lymphocytes
T-Cell Antigen Receptor
Incidence
United States Indian Health Service
Enzyme Replacement Therapy
Population Control

ASJC Scopus subject areas

  • Medicine(all)

Cite this

Kwan, A., Abraham, R. S., Currier, R., Brower, A., Andruszewski, K., Abbott, J. K., ... Puck, J. M. (2014). Newborn screening for severe combined immunodeficiency in 11 screening programs in the United States. JAMA - Journal of the American Medical Association, 312(7), 729-738. https://doi.org/10.1001/jama.2014.9132

Newborn screening for severe combined immunodeficiency in 11 screening programs in the United States. / Kwan, Antonia; Abraham, Roshini S.; Currier, Robert; Brower, Amy; Andruszewski, Karen; Abbott, Jordan K.; Baker, Mei; Ballow, Mark; Bartoshesky, Louis E.; 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.; Hanson, I. Celine; 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.

In: JAMA - Journal of the American Medical Association, Vol. 312, No. 7, 20.08.2014, p. 729-738.

Research output: Contribution to journalArticle

Kwan, A, Abraham, RS, Currier, R, Brower, A, Andruszewski, K, Abbott, JK, Baker, M, Ballow, M, Bartoshesky, LE, Bonilla, FA, Brokopp, C, Brooks, E, Caggana, M, Celestin, J, Church, JA, Comeau, AM, Connelly, JA, Cowan, MJ, Cunningham-Rundles, C, Dasu, T, Dave, N, De La Morena, MT, Duffner, U, Fong, CT, Forbes, L, Freedenberg, D, Gelfand, EW, Hale, JE, Hanson, IC, Hay, BN, Hu, D, Infante, A, Johnson, D, Kapoor, N, Kay, DM, Kohn, DB, Lee, R, Lehman, H, Lin, Z, Lorey, F, Abdel-Mageed, A, Manning, A, McGhee, S, Moore, TB, Naides, SJ, Notarangelo, LD, Orange, JS, Pai, SY, Porteus, M, Rodriguez, R, Romberg, N, Routes, J, Ruehle, M, Rubenstein, A, Saavedra-Matiz, CA, Scott, G, Scott, PM, Secord, E, Seroogy, C, Shearer, WT, Siegel, S, Silvers, SK, Stiehm, ER, Sugerman, RW, Sullivan, JL, Tanksley, S, Tierce, ML, Verbsky, J, Vogel, B, Walker, R, Walkovich, K, Walter, JE, Wasserman, RL, Watson, MS, Weinberg, GA, Weiner, LB, Wood, H, Yates, AB & Puck, JM 2014, 'Newborn screening for severe combined immunodeficiency in 11 screening programs in the United States', JAMA - Journal of the American Medical Association, vol. 312, no. 7, pp. 729-738. https://doi.org/10.1001/jama.2014.9132
Kwan, Antonia ; Abraham, Roshini S. ; Currier, Robert ; Brower, Amy ; Andruszewski, Karen ; Abbott, Jordan K. ; Baker, Mei ; Ballow, Mark ; Bartoshesky, Louis E. ; 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. ; Hanson, I. Celine ; 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. / Newborn screening for severe combined immunodeficiency in 11 screening programs in the United States. In: JAMA - Journal of the American Medical Association. 2014 ; Vol. 312, No. 7. pp. 729-738.
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title = "Newborn screening for severe combined immunodeficiency in 11 screening programs in the United States",
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.",
author = "Antonia Kwan and Abraham, {Roshini S.} and Robert Currier and Amy Brower and Karen Andruszewski and Abbott, {Jordan K.} and Mei Baker and Mark Ballow and Bartoshesky, {Louis E.} and Bonilla, {Francisco A.} and Charles Brokopp and Edward Brooks and Michele Caggana and Jocelyn Celestin and Church, {Joseph A.} and Comeau, {Anne Marie} and Connelly, {James A.} and Cowan, {Morton J.} and Charlotte Cunningham-Rundles and Trivikram Dasu and Nina Dave and {De La Morena}, {Maria T.} and Ulrich Duffner and Fong, {Chin To} and Lisa Forbes and Debra Freedenberg and Gelfand, {Erwin W.} and Hale, {Jaime E.} and Hanson, {I. Celine} and Hay, {Beverly N.} and Diana Hu and Anthony Infante and Daisy Johnson and Neena Kapoor and Kay, {Denise M.} and Kohn, {Donald B.} and Rachel Lee and Heather Lehman and Zhili Lin and Fred Lorey and Aly Abdel-Mageed and Adrienne Manning and Sean McGhee and Moore, {Theodore B.} and Naides, {Stanley J.} and Notarangelo, {Luigi D.} and Orange, {Jordan S.} and Pai, {Sung Yun} and Matthew Porteus and Ray Rodriguez and Neil Romberg and John Routes and Mary Ruehle and Arye Rubenstein and Saavedra-Matiz, {Carlos A.} and Ginger Scott and Scott, {Patricia M.} and Elizabeth Secord and Christine Seroogy and Shearer, {William T.} and Subhadra Siegel and Silvers, {Stacy K.} and Stiehm, {E. Richard} and Sugerman, {Robert W.} and Sullivan, {John L.} and Susan Tanksley and Tierce, {Millard L.} and James Verbsky and Beth Vogel and Rosalyn Walker and Kelly Walkovich and Walter, {Jolan E.} and Wasserman, {Richard L.} and Watson, {Michael S.} and Weinberg, {Geoffrey A.} and Weiner, {Leonard B.} and Heather Wood and Yates, {Anne B.} and Puck, {Jennifer M.}",
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month = "8",
day = "20",
doi = "10.1001/jama.2014.9132",
language = "English (US)",
volume = "312",
pages = "729--738",
journal = "JAMA - Journal of the American Medical Association",
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TY - JOUR

T1 - Newborn screening for severe combined immunodeficiency in 11 screening programs in the United States

AU - Kwan, Antonia

AU - Abraham, Roshini S.

AU - Currier, Robert

AU - Brower, Amy

AU - Andruszewski, Karen

AU - Abbott, Jordan K.

AU - Baker, Mei

AU - Ballow, Mark

AU - Bartoshesky, Louis E.

AU - Bonilla, Francisco A.

AU - Brokopp, Charles

AU - Brooks, Edward

AU - Caggana, Michele

AU - Celestin, Jocelyn

AU - Church, Joseph A.

AU - Comeau, Anne Marie

AU - Connelly, James A.

AU - Cowan, Morton J.

AU - Cunningham-Rundles, Charlotte

AU - Dasu, Trivikram

AU - Dave, Nina

AU - De La Morena, Maria T.

AU - Duffner, Ulrich

AU - Fong, Chin To

AU - Forbes, Lisa

AU - Freedenberg, Debra

AU - Gelfand, Erwin W.

AU - Hale, Jaime E.

AU - Hanson, I. Celine

AU - Hay, Beverly N.

AU - Hu, Diana

AU - Infante, Anthony

AU - Johnson, Daisy

AU - Kapoor, Neena

AU - Kay, Denise M.

AU - Kohn, Donald B.

AU - Lee, Rachel

AU - Lehman, Heather

AU - Lin, Zhili

AU - Lorey, Fred

AU - Abdel-Mageed, Aly

AU - Manning, Adrienne

AU - McGhee, Sean

AU - Moore, Theodore B.

AU - Naides, Stanley J.

AU - Notarangelo, Luigi D.

AU - Orange, Jordan S.

AU - Pai, Sung Yun

AU - Porteus, Matthew

AU - Rodriguez, Ray

AU - Romberg, Neil

AU - Routes, John

AU - Ruehle, Mary

AU - Rubenstein, Arye

AU - Saavedra-Matiz, Carlos A.

AU - Scott, Ginger

AU - Scott, Patricia M.

AU - Secord, Elizabeth

AU - Seroogy, Christine

AU - Shearer, William T.

AU - Siegel, Subhadra

AU - Silvers, Stacy K.

AU - Stiehm, E. Richard

AU - Sugerman, Robert W.

AU - Sullivan, John L.

AU - Tanksley, Susan

AU - Tierce, Millard L.

AU - Verbsky, James

AU - Vogel, Beth

AU - Walker, Rosalyn

AU - Walkovich, Kelly

AU - Walter, Jolan E.

AU - Wasserman, Richard L.

AU - Watson, Michael S.

AU - Weinberg, Geoffrey A.

AU - Weiner, Leonard B.

AU - Wood, Heather

AU - Yates, Anne B.

AU - Puck, Jennifer M.

PY - 2014/8/20

Y1 - 2014/8/20

N2 - 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.

AB - 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.

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DO - 10.1001/jama.2014.9132

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JF - JAMA - Journal of the American Medical Association

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