Publication:
Family history of early infant death correlates with earlier age at diagnosis but not shorter time to diagnosis for severe combined immunodeficiency

Issued Date

2017-07-12

Resource Type

Article

ISSN

16643224

DOI

10.3389/fimmu.2017.00808

Other identifier(s)

2-s2.0-85023170610

Rights

Mahidol University

Rights Holder(s)

SCOPUS

Bibliographic Citation

Frontiers in Immunology. Vol.8, No.JUL (2017)

Suggested Citation

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 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. Vol.8, No.JUL (2017). doi:10.3389/fimmu.2017.00808 Retrieved from: https://repository.li.mahidol.ac.th/handle/20.500.14594/42820

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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

Author(s)

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

Other Contributor(s)

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

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.

Keyword(s)

Immunology and Microbiology

Availability

URI

https://repository.li.mahidol.ac.th/handle/20.500.14594/42820

Collections

Scopus 2016-2017