https://scholars.lib.ntu.edu.tw/handle/123456789/525856
標題: | Incidence of severe combined immunodeficiency through newborn screening in a Chinese population | 作者: | YIN-HSIU CHIEN Chiang S.-C. Chang K.-L. HSIN-HUI YU Lee W.-I. Tsai L.-P. Hsu L.-W. Hu M.-H. WUH-LIANG HWU |
公開日期: | 2015 | 出版社: | Elsevier | 卷: | 114 | 期: | 1 | 起(迄)頁: | 12-16 | 來源出版物: | Journal of the Formosan Medical Association | 摘要: | Background/Purpose: In order to know the true incidence of severe combined immunodeficiency (SCID) in a Chinese population, we conducted and implemented SCID newborn screening in Taiwan. Methods: Between May 1, 2010 and December 31, 2011, the National Taiwan University Hospital Newborn Screening Center screened all newborns for T-cell lymphopenia by measuring the copy number of T-cell receptor excision circles (TRECs) and RNase P. Newborns with low TREC values were subjected to complete blood cell counts and flow cytometry. Results: A total of 106,391 newborns were screened using the TREC assay over a period of 19 months. Five newborns were immediately referred for confirmatory tests, including two SCID patients and two patients with persistent T-cell lymphopenia; a third SCID patient was found 2 months after the study period. All three SCID cases received stem cell transplantation at the age of 2-5 months. We also identified five cases of 22q11.2 microdeletion syndrome. During this period, two SCID patients from among the unscreened newborns were reported, and they died at ages 3 months and 4 months, respectively. Conclusion: Newborn screening to measure the number of TREC copies successfully identifies newborns with T-cell lymphopenia, 22q11.2 microdeletion syndrome, and other high-risk conditions. Taken together, the incidence of T-cell lymphopenia in apparently healthy newborns is more than 1 in 11,821, and further attention to their immune functions is warranted. ? 2012. |
URI: | https://www.scopus.com/inward/record.uri?eid=2-s2.0-84921433749&doi=10.1016%2fj.jfma.2012.10.020&partnerID=40&md5=d4ec3a6b549ef47b3859730843fed820 https://scholars.lib.ntu.edu.tw/handle/123456789/525856 |
ISSN: | 0929-6646 | DOI: | 10.1016/j.jfma.2012.10.020 | SDG/關鍵字: | T lymphocyte receptor; Article; blood cell count; Chinese; chromosome deletion 22q11; clinical article; flow cytometry; human; incidence; lymphocytopenia; newborn; newborn screening; severe combined immunodeficiency; Taiwan; Asian continental ancestry group; female; infant; lymphocyte count; Lymphopenia; male; severe combined immunodeficiency; Asian Continental Ancestry Group; Female; Humans; Incidence; Infant; Infant, Newborn; Lymphocyte Count; Lymphopenia; Male; Neonatal Screening; Severe Combined Immunodeficiency; Taiwan |
顯示於: | 醫學系 |
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