Takagi Masatoshi, Hoshino Akihiro, Yoshida Kenichi, Ueno Hiroo, Imai Kohsuke, Piao Jinhua, Kanegane Hirokazu, Yamashita Motoi, Okano Tsubasa, Muramatsu Hideki, Okuno Yusuke, Shiraishi Yuichi, Chiba Kenichi, Tanaka Hiroko, Miyano Satoru, Ogawa Seishi, Hayashi Yasuhide, Kojima Seiji, Morio Tomohiro
Department of Pediatrics and Developmental Biology, Tokyo Medical and Dental University (TMDU), Tokyo, Japan.
Department of Lifetime Clinical Immunology, Tokyo Medical and Dental University (TMDU), Tokyo, Japan.
Pediatr Blood Cancer. 2018 Feb;65(2). doi: 10.1002/pbc.26831. Epub 2017 Sep 29.
Autoimmune diseases in children are rare and can be difficult to diagnose. Single causative genes have been identified for some pediatric autoimmune diseases. Such orphan diseases may not be diagnosed properly due to the variability of patients' phenotypes. Guidelines for the diagnostic process need to be developed. Fifteen patients with uncharacterized childhood autoimmune diseases with lymphoproliferation that had negative testing for autoimmune lymphoproliferative syndrome were subjected to whole-exome sequencing to identify genes associated with these conditions. Five causative genes, CTLA4, STAT3, TNFAIP3, IKZF1, and PSTPIP1, were identified. These genes should be considered as candidates for uncharacterized childhood autoimmune diseases with lymphoproliferation.
儿童自身免疫性疾病较为罕见，且诊断困难。已确定了一些儿童自身免疫性疾病的单一致病基因。由于患者表型的变异性，此类罕见病可能无法得到正确诊断。因此需要制定诊断流程指南。对15例患有未明确病因的儿童自身免疫性疾病且伴有淋巴细胞增殖的患者进行了全外显子组测序，这些患者针对自身免疫性淋巴细胞增殖综合征的检测结果为阴性，以确定与这些病症相关的基因。共鉴定出5个致病基因，即CTLA4、STAT3、TNFAIP3、IKZF1和PSTPIP1。这些基因应被视为患有未明确病因的儿童自身免疫性疾病且伴有淋巴细胞增殖的候选基因。
