Next Article in Journal
Suitable Specimen Types for Newborn Biochemical Screening-A Summary
Next Article in Special Issue
Newborn Screening for Primary T- and B-Cell Immune Deficiencies—A Prospective Study in Andalucía
Previous Article in Journal / Special Issue
Newborn Screening for Severe Combined Immunodeficiency in the US: Current Status and Approach to Management
Article Menu

Export Article

Open AccessFeature PaperArticle
Int. J. Neonatal Screen. 2017, 3(3), 16; https://doi.org/10.3390/ijns3030016

Newborn Screening for Severe Combined Immunodeficiency in Taiwan

1
Department of Medical Genetics, National Taiwan University Hospital, Taipei 10041, Taiwan
2
Department of Pediatrics, National Taiwan University Hospital, Taipei 10041, Taiwan
3
Newborn Screening, Department of Clinical Pathology, Taipei Institute of Pathology, Taipei 10374, Taiwan
4
Neonatal Screening Center, Chinese Foundation of Health, Taipei 11070, Taiwan
5
Department of Pediatrics, Chang Gung University College of Medicine and Children’s Hospital, Taoyuan 33305, Taiwan
6
Department of Pediatrics, National Cheng Kung University Hospital, Tainan 70403, Taiwan
*
Author to whom correspondence should be addressed.
Received: 30 March 2017 / Revised: 2 June 2017 / Accepted: 19 June 2017 / Published: 23 June 2017
Full-Text   |   PDF [455 KB, uploaded 26 June 2017]   |  

Abstract

A study of newborn screening for severe combined immunodeficiency (SCID) by detecting the T-cell receptor excision circle (TRECs) copy number in dried blood spots (DBSs) collected from newborns 3 days of age began in 2010 in Taiwan, and SCID screening was subsequently implemented country-wide in 2012. A total of 920,398 newborns were screened during a period of 78 months. Of these, 175 newborns (0.02%) were requested to undergo an immune function survey, and 136 cases (1 in 6768 newborns) were ultimately diagnosed as having T cell lymphopenia. The screening detected seven cases of typical SCID, with an incidence of 1 in 131,485 newborns (95% confidence interval, 1/63,693~1/271,434). Hematopoietic stem cell transplantation was performed in six patients before overt infection occurred, and the survival rate was 100%. The screening also detected eight cases of SCID variants and 20 cases of 22q11.2 deletion syndrome. Other etiologies of T lymphopenia were identified, and those newborns were evaluated and managed according to their immunological status. Owing to the introduction of newborn screening by measuring the TREC copy number, early administration of treatments became possible for newborns with conditions that put them at risk of primary or secondary immunodeficiency. View Full-Text
Keywords: TREC; KREC; 22q11.2 deletion; T cell lymphopenia TREC; KREC; 22q11.2 deletion; T cell lymphopenia
Figures

Figure 1

This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited (CC BY 4.0).
SciFeed

Share & Cite This Article

MDPI and ACS Style

Chien, Y.-H.; Yu, H.-H.; Lee, N.-C.; Ho, H.-C.; Kao, S.-M.; Lu, M.-Y.; Jaing, T.-H.; Lee, W.-I.; Chang, K.-W.; Shieh, C.-C.; Chen, J.-S.; Chiang, S.-C.; Liu, C.-C.; Hwu, W.-L. Newborn Screening for Severe Combined Immunodeficiency in Taiwan. Int. J. Neonatal Screen. 2017, 3, 16.

Show more citation formats Show less citations formats

Note that from the first issue of 2016, MDPI journals use article numbers instead of page numbers. See further details here.

Related Articles

Article Metrics

Article Access Statistics

1

Comments

[Return to top]
Int. J. Neonatal Screen. EISSN 2409-515X Published by MDPI AG, Basel, Switzerland RSS E-Mail Table of Contents Alert
Back to Top