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Title: Family history of early infant death correlates with earlier age at diagnosis but not shorter time to diagnosis for severe combined immunodeficiency
Authors: Anderson Dik Wai Luk
Pamela P. Lee
Huawei Mao
Koon Wing Chan
Xiang Yuan Chen
Tong Xin Chen
Jian Xin He
Nadia Kechout
Deepti Suri
Yin Bo Tao
Yong Bin Xu
Li Ping Jiang
Woei Kang Liew
Orathai Jirapongsananuruk
Tassalapa Daengsuwan
Anju Gupta
Surjit Singh
Amit Rawat
Amir Hamzah Abdul Latiff
Anselm Chi Wai Lee
Lynette P. Shek
Thi Van Anh Nguyen
Tek Jee Chin
Yin Hsiu Chien
Zarina Abdul Latiff
Thi Minh Huong Le
Nguyen Ngoc Quynh Le
Bee Wah Lee
Qiang Li
Dinesh Raj
Mohamed Ridha Barbouche
Meow Keong Thong
Maria Carmen D. Ang
Xiao Chuan Wang
Chen Guang Xu
Hai Guo Yu
Hsin Hui Yu
Tsz Leung Lee
Felix Yat Sun Yau
Wilfred Hing Sang Wong
Wenwei Tu
Wangling Yang
Patrick Chun Yin Chong
Marco Hok Kung Ho
Yu Lung Lau
The University of Hong Kong
Guangzhou Children's Hospital
Shanghai Jiao Tong University School of Medicine
Beijing Children's Hospital
Institut Pasteur - Alger
Postgraduate Institute of Medical Education and Research
Guangzhou Women and Children's Medical Center
Chongqing Medical University
KK Women's And Children's Hospital
Mahidol University
Queen Sirikit National Institute of Child Health
Monash University Malaysia
Mount Elizabeth Medical Centre
National University of Singapore
National Children's Hospital
Sarawak General Hospital
National Taiwan University
Universiti Kebangsaan Malaysia
Sichuan Second West China Hospital
Holy Family Hospital
University of Tunis El Manar
University of Malaya
San Pedro Hospital
Shanghai Children's Medical Center
Sun Yat-Sen University
Nanjing Children's Hospital
Queen Elizabeth Hospital Hong Kong
Keywords: Immunology and Microbiology
Issue Date: 12-Jul-2017
Citation: Frontiers in Immunology. Vol.8, No.JUL (2017)
Abstract: © 2017 Luk, Lee, Mao, Chan, Chen, Chen, He, Kechout, Suri, Tao, Xu, Jiang, Liew, Jirapongsananuruk, Daengsuwan, Gupta, Singh, Rawat, Abdul Latiff, Lee, Shek, Nguyen, Chin, Chien, Latiff, Le, Le, Lee, Li, Raj, Barbouche, Thong, Ang, Wang, Xu, Yu, Yu, Lee, Yau, Wong, Tu, Yang, Chong, Ho and Lau. 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 Calmette-Guérin (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 × 109/L with over 88% patients below 3 × 109/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 × 109/L.
ISSN: 16643224
Appears in Collections:Scopus 2016-2017

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