NDLI: Newborn screening for severe combined immunodeficiency and T-cell lymphopenia in California: results of the first 2 years.

Content Provider	World Health Organization (WHO)-Global Index Medicus
Author	Kwan, Antonia Church, Joseph A. Cowan, Morton J. Agarwal, Rajni Kapoor, Neena Kohn, Donald B. Lewis, David B. McGhee, Sean A. Moore, Theodore B. Stiehm, E. Richard Porteus, Matthew Aznar, Constantino P. Currier, Robert Lorey, Fred Puck, Jennifer M.
Spatial Coverage	California
Description	Country affiliation: United States Author Affiliation: Kwan A ( Department of Pediatrics, University of California San Francisco and UCSF Benioff Children's Hospital, San Francisco, CA 94143-0519, USA.)
Abstract	BACKGROUND: Assay of T-cell receptor excision circles (TRECs) in dried blood spots obtained at birth permits population-based newborn screening (NBS) for severe combined immunodeficiency (SCID). OBJECTIVE: We sought to report the first 2 years of TREC NBS in California. METHODS: Since August 2010, California has conducted SCID NBS. A high-throughput TREC quantitative PCR assay with DNA isolated from routine dried blood spots was developed. Samples with initial low TREC numbers had repeat DNA isolation with quantitative PCR for TRECs and a genomic control, and immunophenotyping was performed within the screening program for infants with incomplete or abnormal results. Outcomes were tracked. RESULTS: Of 993,724 infants screened, 50 (1/19,900 [0.005%]) had significant T-cell lymphopenia. Fifteen (1/66,250) required hematopoietic cell or thymus transplantation or gene therapy; these infants had typical SCID (n = 11), leaky SCID or Omenn syndrome (n = 3), or complete DiGeorge syndrome (n = 1). Survival to date in this group is 93%. Other T-cell lymphopenic infants had variant SCID or combined immunodeficiency (n = 6), genetic syndromes associated with T-cell impairment (n = 12), secondary T-cell lymphopenia (n = 9), or preterm birth (n = 8). All T-cell lymphopenic infants avoided live vaccines and received appropriate interventions to prevent infections. TREC test specificity was excellent: only 0.08% of infants required a second test, and 0.016% required lymphocyte phenotyping by using flow cytometry. CONCLUSIONS: TREC NBS in California has achieved early diagnosis of SCID and other conditions with T-cell lymphopenia, facilitating management and optimizing outcomes. Furthermore, NBS has revealed the incidence, causes, and follow-up of T-cell lymphopenia in a large diverse population.
File Format	HTM / HTML
ISSN	00916749
e-ISSN	10976825
DOI	10.1016/j.jaci.2013.04.024
Journal	Journal of Allergy and Clinical Immunology
Issue Number	1
Volume Number	132
Language	English
Publisher	Elsevier
Publisher Date	2013-07-01
Publisher Place	United States
Access Restriction	Open
Subject Keyword	Discipline Immunology Lymphopenia Diagnosis Neonatal Screening Severe Combined Immunodeficiency T-lymphocytes Immunology Infant, Newborn Research Support, N.i.h., Extramural Research Support, Non-u.s. Gov't
Content Type	Text
Resource Type	Article
Subject	Immunology and Allergy Immunology

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