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Family History of Early Infant Death Correlates with Earlier Age at Diagnosis But Not Shorter Time to Diagnosis for Severe Combined Immunodeficiency 期刊论文

编号：

25ffb3fa-1340-4979-a8de-e8507d480412
作者：

Luk, Anderson Dik Wai^[1];Lee, Pamela P.^[1];Mao, Huawei^[1,2];Chan, KoonWing^[1];Chen, Xiang Yuan^[3];Chen, TongXin^[4];He, Jian Xin^[5];Kechout, Nadia^[6];Suri, Deepti^[7];Tao, Yin Bo^[3];Xu, Yong Bin^[8];Jiang, Li Ping^[9];Liew, Woei Kang^[10];Jirapongsananuruk, Orathai^[11];Daengsuwan, Tassalapa^[12];Gupta, Anju^[7];Singh, Surjit^[7];Rawat, Amit^[7];Latiff, Amir Hamzah Abdul^[13];Lee, Anselm Chi Wai^[14];Shek, Lynette P.^[15];Thi Van Anh Nguyen^[16];Chin, Tek Jee^[17];Chien, Yin Hsiu^[18];Latiff, Zarina Abdul^[19];Le, Thi Minh Huong^[16];Nguyen Ngoc Quynh Le^[16];Lee, Bee Wah^[15];Li, Qiang^[20];Raj, Dinesh^[21];Barbouche, MohamedRidha^[22,23];Thong, MeowKeong^[24];Ang, Maria Carmen D.^[25];Wang, Xiao Chuan(王晓川)^[26]Xu, Chen Guang^[27];Yu, Hai Guo^[28];Yu, HsinHui^[18];Lee, Tsz Leung^[1];Yau, Felix Yat Sun^[29];Wong, Wilfred HingSang^[1];Tu, Wenwei^[1,2];Yang, Wangling^[1,2];Chong, Patrick Chun Yin^[1];Ho, Marco Hok Kung^[1];Lau, Yu Lung^[1,2];
语种：

英文
期刊：

FRONTIERS IN IMMUNOLOGY ISSN：1664-3224 2017 年 8 卷 ; JUL 12
收录：
关键词：

severe combined immunodeficiency family history candidiasis absolute lymphocyte count newborn screening
摘要：

Background: Severe combined immunodeficiency (SCID) is fatal unless treated with hematopoietic stem cell transplant. Delay in diagnosis is common without newborn screening. Family history of infant death due to infection or known SCID (FH) has been associated with earlier diagnosis.
Objective: The aim of this study was to identify the clinical features that affect age at diagnosis (AD) and time to the diagnosis of SCID.
Methods: From 2005 to 2016, 147 SCID patients were referred to the Asian Primary Immunodeficiency Network. Patients with genetic diagnosis, age at presentation (AP), and AD were selected for study.
Results: A total of 88 different SCID gene mutations were identified in 94 patients, including 49 IL2RG mutations, 12 RAG1 mutations, 8 RAG2 mutations, 7 JAK3 mutations, 4 DCLRE1C mutations, 4 IL7R mutations, 2 RFXANK mutations, and 2 ADA mutations. A total of 29 mutations were previously unreported. Eighty-three of the 94 patients fulfilled the selection criteria. Their median AD was 4 months, and the time to diagnosis was 2 months. The commonest SCID was X-linked (n = 57). A total of 29 patients had a positive FH. Candidiasis (n = 27) and bacillus CalmetteGuerin (BCG) vaccine infection (n = 19) were the commonest infections. The median age for candidiasis and BCG infection documented were 3 months and 4 months, respectively. The median absolute lymphocyte count (ALC) was 1.05 x 10(9)/L with over 88% patients below 3 x 10(9)/L. Positive FH was associated with earlier AP by 1 month (p = 0.002) and diagnosis by 2 months (p = 0.008), but not shorter time to diagnosis (p = 0.494). Candidiasis was associated with later AD by 2 months (p = 0.008) and longer time to diagnosis by 0.55 months (p = 0.003). BCG infections were not associated with age or time to diagnosis.
Conclusion: FH was useful to aid earlier diagnosis but was overlooked by clinicians and not by parents. Similarly, typical clinical features of SCID were not recognized by clinicians to shorten the time to diagnosis. We suggest that lymphocyte subset should be performed for any infant with one or more of the following four clinical features: FH, candidiasis, BCG infections, and ALC below 3 x 10(9)/L.
推荐引用方式
GB/T 7714：

Luk Anderson Dik Wai,Lee Pamela P.,Mao Huawei, et al. Family History of Early Infant Death Correlates with Earlier Age at Diagnosis But Not Shorter Time to Diagnosis for Severe Combined Immunodeficiency [J].FRONTIERS IN IMMUNOLOGY,2017,8.
APA：

Luk Anderson Dik Wai,Lee Pamela P.,Mao Huawei,Chan Koon-Wing,&Lau Yu Lung.(2017).Family History of Early Infant Death Correlates with Earlier Age at Diagnosis But Not Shorter Time to Diagnosis for Severe Combined Immunodeficiency .FRONTIERS IN IMMUNOLOGY,8.
MLA：

Luk Anderson Dik Wai, et al. "Family History of Early Infant Death Correlates with Earlier Age at Diagnosis But Not Shorter Time to Diagnosis for Severe Combined Immunodeficiency" .FRONTIERS IN IMMUNOLOGY 8(2017).
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