Lin Li, Wang Ying, Liu Luyao, Ying Wenjing, Wang Wenjie, Sun Bijun, Sun Jinqiao, Wang Xiaochuan
Department of Clinical Immunology, Children's Hospital of Fudan University, Shanghai, 201102, China.
Genes Dis. 2019 Oct 21;7(1):122-127. doi: 10.1016/j.gendis.2019.10.008. eCollection 2020 Mar.
Accumulating evidence indicates that is associated with inflammation and apoptotic. deficiency leads to proinflammatory signaling impaired. However, only few patients with homozygous loss-of-function mutation in gene had been reported until now. Here, we report a Chinese combined immunodeficiency patient. He had recurrent infection, diarrhea after 3 months old. Immune function indicated that T, B and NK cells decreased significantly but immunoglobulins approximately remained normal. Whole-exome sequencing indicated that he had novel compound heterozygous mutations (c.998 C > A from his mother and c.1934 C > T from his father) in gene, which were confirmed by Sanger sequencing. Our study reports novel mutations in gene and new phenotype of patient with deficiency.
越来越多的证据表明，[具体内容缺失]与炎症和凋亡有关。[具体内容缺失]缺乏会导致促炎信号受损。然而，迄今为止，仅有少数携带[具体基因名称]纯合功能丧失突变的患者被报道。在此，我们报告一名中国的联合免疫缺陷患者。他在3个月大后反复感染、腹泻。免疫功能检测表明，T、B和NK细胞显著减少，但免疫球蛋白大致保持正常。全外显子测序显示，他在[具体基因名称]基因中有新的复合杂合突变（来自母亲的c.998 C>A和来自父亲的c.1934 C>T），这通过桑格测序得到了证实。我们的研究报告了[具体基因名称]基因中的新突变以及[具体内容缺失]缺乏患者的新表型。
