Munc13-4缺乏伴活化的CD8⁺T细胞上CD5下调。
Munc13-4 deficiency with CD5 downregulation on activated CD8+ T cells.
作者信息
Wada Taizo, Yasumi Takahiro, Toma Tomoko, Hori Masayuki, Maeda Sayaka, Umeda Katsutsugu, Heike Toshio, Adachi Souichi, Usami Ikuya, Yachie Akihiro
机构信息
Department of Pediatrics, School of Medicine, Institute of Medical, Pharmaceutical and Health Sciences, Kanazawa University, Kanazawa, Japan.
出版信息
Pediatr Int. 2014 Aug;56(4):605-8. doi: 10.1111/ped.12290.
Familial hemophagocytic lymphohistiocytosis (FHL) is characterized by uncontrolled activation of T cells and macrophages and hypercytokinemia. We have recently described a significant increase in a subpopulation of CD8(+) T cells with downregulation of CD5 during the acute phase of FHL type2 (FHL2; perforin deficiency), which declines after successful treatment, with a concomitant reduction in serum cytokine level. This unusual subset of CD8(+) T cells, however, has not been characterized in patients with other subtypes of FHL. Herein, we describe a patient with FHL3 (Munc13-4 deficiency) carrying compound heterozygous mutations in the UNC13D gene. He had high serum levels of pro-inflammatory cytokines and significantly increased activated CD8(+) T cells with downregulation of CD5 during the acute phase, similar to that found in FHL2. This immunophenotypic feature may serve as a useful marker of immune dysregulation in FHL3 in addition to FHL2.
家族性噬血细胞性淋巴组织细胞增生症（FHL）的特征是T细胞和巨噬细胞的失控激活以及高细胞因子血症。我们最近描述了在2型FHL（FHL2；穿孔素缺乏症）急性期，CD8(+) T细胞亚群显著增加，同时CD5表达下调，成功治疗后这种情况会下降，血清细胞因子水平也会随之降低。然而，这种不寻常的CD8(+) T细胞亚群在其他FHL亚型患者中尚未得到表征。在此，我们描述了一名患有FHL3（Munc13-4缺乏症）的患者，其UNC13D基因携带复合杂合突变。在急性期，他的促炎细胞因子血清水平很高，活化的CD8(+) T细胞显著增加，同时CD5表达下调，这与FHL2中发现的情况相似。这种免疫表型特征除了在FHL2中之外，还可能作为FHL3免疫失调的有用标志物。
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