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

Anderson Dik Wai Luk 1 Pamela P. Lee 1 Huawei Mao 1, 2 Koon-Wing Chan 1 Xiang Chen 3 Tong-Xin Chen 4 Jian Xin He 5 Nadia Kechout 6 Deepti Suri 7 Yin Tao 3 Yong Xu 8 Jiang Li Ping 9 Woei Liew 10 Orathai Jirapongsananuruk 11 Tassalapa Daengsuwan 12 Anju Gupta 7 Surjit Singh 7 Amit Rawat 7 Amir Hamzah Abdul Latiff 13 Anselm Chi Wai Lee 14 Lynette P. Shek 15 Thi van Anh Nguyen 16 Tek Jee Chin 17 Yin Hsiu Chien 18 Zarina Abdul Latiff 19 Thi Minh Huong Le 16 Ngoc Nguyen 16 Nguyen Ngoc Quynh Le 20 Bee Le 16 15 Qiang Li 21 Dinesh Raj 22 Mohamed-Ridha Barbouche 23 Meow-Keong Thong 24 Maria Carmen D. Ang 25 Xiao Chuan Wang 26 Chen Guang Xu 27 Hai Guo Yu 28 Hsin-Hui Yu 16 Tsz Leung Lee 1 Felix Yat Sun Yau 29 Wilfred Hing-Sang Wong 1 Wenwei Tu 1, 2 Wangling Yang 1, 2 Patrick Chun Yin Chong 1 Marco Hok Kung Ho 1 Yu Lung Lau 2, 1, *
Abstract : 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.
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Frontiers in Immunology, Frontiers, 2017, 8, pp.808. 〈10.3389/fimmu.2017.00808〉
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Anderson Dik Wai Luk, Pamela P. Lee, Huawei Mao, Koon-Wing Chan, Xiang Chen, 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, Frontiers, 2017, 8, pp.808. 〈10.3389/fimmu.2017.00808〉. 〈pasteur-01638829〉

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