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本文引用的文献

1
Treatment of infants identified as having severe combined immunodeficiency by means of newborn screening.通过新生儿筛查确诊为严重联合免疫缺陷的婴儿的治疗。
J Allergy Clin Immunol. 2017 Mar;139(3):733-742. doi: 10.1016/j.jaci.2017.01.005.
2
Profound T-cell lymphopenia associated with prenatal exposure to purine antagonists detected by TREC newborn screening.产前暴露于嘌呤拮抗剂导致的严重 T 细胞淋巴细胞减少症可通过 TREC 新生儿筛查检出。
J Allergy Clin Immunol Pract. 2017 Jan-Feb;5(1):198-200. doi: 10.1016/j.jaip.2016.09.028.
3
Newborn Screening for Severe Primary Immunodeficiency Diseases in Sweden-a 2-Year Pilot TREC and KREC Screening Study.瑞典严重原发性免疫缺陷病的新生儿筛查——一项为期两年的TREC和KREC筛查试点研究。
J Clin Immunol. 2017 Jan;37(1):51-60. doi: 10.1007/s10875-016-0347-5. Epub 2016 Nov 21.
4
Cost-Effectiveness/Cost-Benefit Analysis of Newborn Screening for Severe Combined Immune Deficiency in Washington State.华盛顿州严重联合免疫缺陷新生儿筛查的成本效益/成本效益分析。
J Pediatr. 2016 May;172:127-35. doi: 10.1016/j.jpeds.2016.01.029. Epub 2016 Feb 11.
5
Prospective neonatal screening for severe T- and B-lymphocyte deficiencies in Seville.在塞维利亚对严重T淋巴细胞和B淋巴细胞缺陷进行前瞻性新生儿筛查。
Pediatr Allergy Immunol. 2016 Feb;27(1):70-7. doi: 10.1111/pai.12501. Epub 2015 Nov 23.
6
History and current status of newborn screening for severe combined immunodeficiency.严重联合免疫缺陷新生儿筛查的历史与现状
Semin Perinatol. 2015 Apr;39(3):194-205. doi: 10.1053/j.semperi.2015.03.004. Epub 2015 Apr 30.
7
TREC Based Newborn Screening for Severe Combined Immunodeficiency Disease: A Systematic Review.基于TREC的严重联合免疫缺陷病新生儿筛查：一项系统评价。
J Clin Immunol. 2015 May;35(4):416-30. doi: 10.1007/s10875-015-0152-6. Epub 2015 Apr 17.
8
Positive Family History, Infection, Low Absolute Lymphocyte Count (ALC), and Absent Thymic Shadow: Diagnostic Clues for All Molecular Forms of Severe Combined Immunodeficiency (SCID).家族史阳性、感染、绝对淋巴细胞计数低（ALC）以及胸腺影缺失：严重联合免疫缺陷（SCID）所有分子形式的诊断线索
J Allergy Clin Immunol Pract. 2015 Jul-Aug;3(4):585-91. doi: 10.1016/j.jaip.2015.01.026. Epub 2015 Mar 29.
9
Incidence of severe combined immunodeficiency through newborn screening in a Chinese population.中国人群中通过新生儿筛查发现的严重联合免疫缺陷病发病率。
J Formos Med Assoc. 2015 Jan;114(1):12-6. doi: 10.1016/j.jfma.2012.10.020. Epub 2013 Jan 3.
10
Severe combined immunodeficiency: recent developments and guidance on clinical management.重症联合免疫缺陷：最新进展及临床管理指南
Arch Dis Child. 2015 Jul;100(7):667-72. doi: 10.1136/archdischild-2014-306425. Epub 2015 Jan 6.

Newborn screening for severe combined immunodeficiency: a primer for clinicians.

作者信息

Biggs Catherine M, Haddad Elie, Issekutz Thomas B, Roifman Chaim M, Turvey Stuart E

机构信息

Department of Pediatrics (Biggs, Turvey), British Columbia Children's Hospital, University of British Columbia, Vancouver, BC; Departments of Pediatrics, and Microbiology, Infection and Immunology (Haddad), University of Montreal, CHU Sainte-Justine, Montréal, Que.; Department of Pediatrics (Issekutz), IWK Health Centre, Dalhousie University, Halifax, NS; Division of Immunology and Allergy (Roifman), Hospital for Sick Children; Department of Pediatrics (Roifman), University of Toronto, Toronto, Ont.

出版信息

CMAJ. 2017 Dec 18;189(50):E1551-E1557. doi: 10.1503/cmaj.170561.

DOI:10.1503/cmaj.170561
PMID:29255099
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5738248/
Abstract
摘要