Skip to main content
Top
Published in: Journal of Clinical Immunology 6/2011

01-12-2011

Cause of Death in Neonates with Inconclusive or Abnormal T-cell Receptor Excision Circle Assays on Newborn Screening

Authors: Deborah J. Accetta, Charles D. Brokopp, Mei W. Baker, James Verbsky, John M. Routes

Published in: Journal of Clinical Immunology | Issue 6/2011

Login to get access

Abstract

Introduction

During the first 2 years of newborn screening (NBS) for severe combined immunodeficiency (SCID), 39 infants with an abnormal or inconclusive newborn screening test for SCID died prior to assessment of immune function. We investigated if SCID or primary T-cell lymphopenia likely contributed to the death of these neonates.

Methods

This study is a detailed retrospective chart review.

Results

Medical records were available in all 39 infants. Three neonates were full-term infants whose deaths were due to congenital anomalies. Thirty-three infants were born <33 weeks estimated gestational age, and the majority of these infants died from complications of prematurity. Six infants died from sepsis: two due to maternal chorioamnionitis, two due to necrotizing enterocolitis, one due to early onset group B strep sepsis, and one from a likely nosocomial infection.

Conclusions

There was no evidence that SCID contributed to the cause of death in neonates with an abnormal of inconclusive NBS test for SCID.
Literature
1.
go back to reference Baker MW, Grossman WJ, Laessig RH, Hoffman GL, Brokopp CD, Kurtycz DF, et al. Development of a routine newborn screening protocol for severe combined immunodeficiency. J Allergy Clin Immunol. 2009;124:522–7.PubMedCrossRef Baker MW, Grossman WJ, Laessig RH, Hoffman GL, Brokopp CD, Kurtycz DF, et al. Development of a routine newborn screening protocol for severe combined immunodeficiency. J Allergy Clin Immunol. 2009;124:522–7.PubMedCrossRef
2.
go back to reference Routes JM, Grossman WJ, Verbsky J, Laessig RH, Hoffman GL, Brokopp CD, et al. Statewide newborn screening for severe T-cell lymphopenia. JAMA: J Am Med Assoc. 2009;302:2465–70.CrossRef Routes JM, Grossman WJ, Verbsky J, Laessig RH, Hoffman GL, Brokopp CD, et al. Statewide newborn screening for severe T-cell lymphopenia. JAMA: J Am Med Assoc. 2009;302:2465–70.CrossRef
3.
go back to reference Hale JE, Bonilla FA, Pai SY, Gerstel-Thompson JL, Notarangelo LD, Eaton RB, et al. Identification of an infant with severe combined immunodeficiency by newborn screening. J Allergy Clin Immunol. 2010;126:1073–4.PubMedCrossRef Hale JE, Bonilla FA, Pai SY, Gerstel-Thompson JL, Notarangelo LD, Eaton RB, et al. Identification of an infant with severe combined immunodeficiency by newborn screening. J Allergy Clin Immunol. 2010;126:1073–4.PubMedCrossRef
4.
go back to reference Chan K, Puck JM. Development of population-based newborn screening for severe combined immunodeficiency. J Allergy Clin Immunol. 2005;115:391–8.PubMedCrossRef Chan K, Puck JM. Development of population-based newborn screening for severe combined immunodeficiency. J Allergy Clin Immunol. 2005;115:391–8.PubMedCrossRef
5.
go back to reference Douek DC, Vescio RA, Betts MR, Brenchley JM, Hill BJ, Zhang L, et al. Assessment of thymic output in adults after haematopoietic stem-cell transplantation and prediction of T-cell reconstitution. Lancet. 2000;355:1875–81.PubMedCrossRef Douek DC, Vescio RA, Betts MR, Brenchley JM, Hill BJ, Zhang L, et al. Assessment of thymic output in adults after haematopoietic stem-cell transplantation and prediction of T-cell reconstitution. Lancet. 2000;355:1875–81.PubMedCrossRef
6.
go back to reference Verschuren MC, Wolvers-Tettero IL, Breit TM, Noordzij J, van Wering ER, van Dongen JJ. Preferential rearrangements of the T cell receptor-delta-deleting elements in human T cells. J Immunol (Baltimore, Md: 1950). 1997;158:1208–16. Verschuren MC, Wolvers-Tettero IL, Breit TM, Noordzij J, van Wering ER, van Dongen JJ. Preferential rearrangements of the T cell receptor-delta-deleting elements in human T cells. J Immunol (Baltimore, Md: 1950). 1997;158:1208–16.
7.
go back to reference Morinishi Y, Imai K, Nakagawa N, Sato H, Horiuchi K, Ohtsuka Y, et al. Identification of severe combined immunodeficiency by T-cell receptor excision circles quantification using neonatal Guthrie cards. J Pediatr. 2009;155:829–33.PubMedCrossRef Morinishi Y, Imai K, Nakagawa N, Sato H, Horiuchi K, Ohtsuka Y, et al. Identification of severe combined immunodeficiency by T-cell receptor excision circles quantification using neonatal Guthrie cards. J Pediatr. 2009;155:829–33.PubMedCrossRef
8.
go back to reference Mathews TJ, MacDorman MF. Infant mortality statistics from the 2004 period linked birth/infant death data set. National vital statistics reports : from the Centers for Disease Control and Prevention, National Center for Health Statistics, National Vital Statistics System 2007;55:1–32. Mathews TJ, MacDorman MF. Infant mortality statistics from the 2004 period linked birth/infant death data set. National vital statistics reports : from the Centers for Disease Control and Prevention, National Center for Health Statistics, National Vital Statistics System 2007;55:1–32.
9.
go back to reference Wynn JL, Levy O. Role of innate host defenses in susceptibility to early-onset neonatal sepsis. Clin Perinatol. 2010;37:307–37.PubMedCrossRef Wynn JL, Levy O. Role of innate host defenses in susceptibility to early-onset neonatal sepsis. Clin Perinatol. 2010;37:307–37.PubMedCrossRef
10.
go back to reference Nussbaum C, Sperandio M. Innate immune cell recruitment in the fetus and neonate. J Reprod Immunol. 2011;90:74–81.PubMedCrossRef Nussbaum C, Sperandio M. Innate immune cell recruitment in the fetus and neonate. J Reprod Immunol. 2011;90:74–81.PubMedCrossRef
11.
go back to reference Buckley RH. Molecular defects in human severe combined immunodeficiency and approaches to immune reconstitution. Annu Rev Immunol. 2004;22:625–55.PubMedCrossRef Buckley RH. Molecular defects in human severe combined immunodeficiency and approaches to immune reconstitution. Annu Rev Immunol. 2004;22:625–55.PubMedCrossRef
12.
go back to reference Chabra S, Cottrill C, Rayens MK, Cross R, Lipke D, Bruce M. Lymphocyte subsets in cord blood of preterm infants: effect of antenatal steroids. Biol Neonate. 1998;74:200–7.PubMedCrossRef Chabra S, Cottrill C, Rayens MK, Cross R, Lipke D, Bruce M. Lymphocyte subsets in cord blood of preterm infants: effect of antenatal steroids. Biol Neonate. 1998;74:200–7.PubMedCrossRef
13.
go back to reference Baker MW, Atkins A, Grossman G, Seroogy C, Lindstrom M, Brokopp C, et al. T-cell receptor excision circles of newborns are associated with gestational age: data from Wisconsin Newborn Screening for Severe Combined Immunodeficiency. J Allergy Clin Immunol. 2011;127:AB146.CrossRef Baker MW, Atkins A, Grossman G, Seroogy C, Lindstrom M, Brokopp C, et al. T-cell receptor excision circles of newborns are associated with gestational age: data from Wisconsin Newborn Screening for Severe Combined Immunodeficiency. J Allergy Clin Immunol. 2011;127:AB146.CrossRef
Metadata
Title
Cause of Death in Neonates with Inconclusive or Abnormal T-cell Receptor Excision Circle Assays on Newborn Screening
Authors
Deborah J. Accetta
Charles D. Brokopp
Mei W. Baker
James Verbsky
John M. Routes
Publication date
01-12-2011
Publisher
Springer US
Published in
Journal of Clinical Immunology / Issue 6/2011
Print ISSN: 0271-9142
Electronic ISSN: 1573-2592
DOI
https://doi.org/10.1007/s10875-011-9591-x

Other articles of this Issue 6/2011

Journal of Clinical Immunology 6/2011 Go to the issue