A Cry for the Development of Newborn Screening for Familial Hemophagocytic Lymphohistiocytosis
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LETTER TO EDITOR
A Cry for the Development of Newborn Screening for Familial Hemophagocytic Lymphohistiocytosis Akihiro Hoshino 1,2 & Yang Xi 1,3 & Tomohei Nakao 4,5 & Keisuke Kato 4 & Satoshi Fujiyama 6,7 & Katsuyoshi Koh 8 & Toshihiko Imamura 9 & Hirokazu Kanegane 1,10 Received: 6 August 2020 / Accepted: 4 September 2020 # Springer Science+Business Media, LLC, part of Springer Nature 2020
To the Editor, The current clinical approach for identifying inborn errors of immunity (IEI) has been dramatically changed by two diagnostic and screening modalities: the next-generation sequencing (NGS) and newborn screening (NS) for severe combined immunodeficiency (SCID). The ability of NGS technology to use genetic information for diagnoses has significantly contributed to improved clinical judgment in choosing the Electronic supplementary material The online version of this article (https://doi.org/10.1007/s10875-020-00863-x) contains supplementary material, which is available to authorized users. * Hirokazu Kanegane [email protected] 1
Department of Pediatrics, Graduate School of Medicine and Pharmaceutical Sciences, University of Toyama, Toyama, Japan
2
Department of Pediatrics and Developmental Biology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, Tokyo, Japan
3
Division of Rheumatology and Immunology, Children’s Hospital of Chongqing Medical University, Chongqing, China
4
Department of Pediatric Hematology and Oncology, Ibaraki Children’s Hospital, Mito, Japan
5
Department of Pediatrics, Dokkyo Medical University Saitama Medical Center, Saitama, Japan
6
Department of Neonatology, Ibaraki Children’s Hospital, Mito, Japan
7
Department of Pediatrics, University of Tsukuba Hospital, Tsukuba, Ibaraki, Japan
8
Department of Hematology/Oncology, Saitama Children’s Medical Center, Saitama, Japan
9
Department of Pediatrics, Graduate School of Medical Science, Kyoto Prefectural University of Medicine, Kyoto, Japan
10
Department of Child Health and Development, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, 1-5-45 Yushima, Bunkyo-ku, Tokyo 113-8519, Japan
best therapeutic approach in IEI patients. T cell receptor excision circle-based NS programs have enabled presymptomatic patients with SCID to be identified, leading to early treatment with good outcomes. These achievements are inspiring for the desire to continue to improve outcomes in other severe IEI. Recently, new technologies including bead array or proteomic analysis using dried blood spot (DBS) samples have demonstrated the potential of early diagnosis of IEI through NS [1–3]. On the other hand, there are quite limited reports that directly mention their importance in the clinical setting. Familial hemophagocytic lymphohistiocytosis (FHL) is a severe IEI; it is characterized by hyperinflammation due to impaired cytotoxicity of CD8 + T cells and NK cells. Although an allogenic hematopoietic stem cell transplantation (HSCT) is curative, early mortality before HSCT and la
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