机构：[1]LKS Faculty of Medicine, Department of Paediatrics and Adolescent Medicine, The University of Hong Kong, Hong Kong, Hong Kong,[2]Shenzhen Primary Immunodeficiency Diagnostic and Therapeutic Laboratory, The University of Hong Kong-Shenzhen Hospital, Shenzhen, China,[3]Guangzhou Children’s Hospital, Guangzhou, China,[4]Department of Allergy and Immunology, Shanghai Children’s Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai, China,[5]Beijing Children’s Hospital, Capital Medical University, Beijing, China,首都医科大学附属北京儿童医院[6]Institut Pasteur d’Algérie, Algeria, North Africa,[7]Allergy Immunology Unit, Advanced Pediatrics Centre, Postgraduate Institute of Medical Education and Research, Chandigarh, India,[8]Guang Zhou Women and Children’s Medical Center, Guangzhou, China,[9]Children’s Hospital of Chongqing Medical University, Chongqing, China,[10]KK Women’s and Children’s Hospital, Singapore, Singapore,[11]Department of Pediatrics, Siriraj Hospital Mahidol University, Bangkok, Thailand,[12]Queen Sirikit National Institute of Child Health, Bangkok, Thailand,[13]Monash University, Selangor, Malaysia,[14]Mount Elizabeth Hospital, Singapore, Singapore,[15]National University of Singapore, Singapore, Singapore,[16]National Children’s Hospital, Hanoi, Vietnam,[17]Sarawak General Hospital Malaysia, Kuching, Malaysia,[18]National Taiwan University Children’s Hospital, Taipei, Taiwan,[19]University Kebangsaan Malaysia Medical Center, Kuala Lumpur, Malaysia,[20]Sichuan Second West China Hospital, Sichuan, China,[21]Department of Paediatrics, Holy Family Hospital, New Delhi, India,[22]Department of Immunology, Institut Pasteur de Tunis and University Tunis-El Manar, Tunis, Tunisia,[23]Faculty of Medicine, Department of Paediatrics, University of Malaya, Kuala Lumpur, Malaysia,[24]San Pedro Hospital, Davao, Philippines,[25]Children’s Hospital of Fudan University, Shanghai, China,[26]The First Affiliated Hospital, Sun Yat-sen University, Guangzhou, China,中山大学附属第一医院[27]Nanjing Children’s Hospital, Nanjing, China,[28]Queen Elizabeth Hospital, Hong Kong, Hong Kong
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.
基金：
Hong Kong Society for Relief of Disabled Children; Health and Medical Research Fund [01120846]; Shenzhen Development and Reform Commission [[2015]164]
第一作者机构：[1]LKS Faculty of Medicine, Department of Paediatrics and Adolescent Medicine, The University of Hong Kong, Hong Kong, Hong Kong,
通讯作者：
通讯机构：[1]LKS Faculty of Medicine, Department of Paediatrics and Adolescent Medicine, The University of Hong Kong, Hong Kong, Hong Kong,[2]Shenzhen Primary Immunodeficiency Diagnostic and Therapeutic Laboratory, The University of Hong Kong-Shenzhen Hospital, Shenzhen, China,
推荐引用方式(GB/T 7714)：
Anderson Dik Wai Luk,Pamela P. Lee,Huawei Mao,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(JUL):-.doi:10.3389/fimmu.2017.00808.
APA：
Anderson Dik Wai Luk,Pamela P. Lee,Huawei Mao,Koon-Wing Chan,Xiang Yuan Chen...&Yu Lung Lau.(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,(JUL)
MLA：
Anderson Dik Wai Luk,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..JUL(2017):-
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