Christodoulou Alexandra, Suwankitwat Nutthakarn, Tietsort Jacob T, Culbert Ryan, Tsai Julia Y, Tarbal Fatima, Zhu Chengsong, Iritani Brian M
Department of Comparative Medicine, University of Washington, Seattle, Washington, USA.
Department of Immunology, Microarray and Immune Phenotyping Core Facility, University of Texas Southwestern Medical Center, Dallas, Texas, USA.
JCI Insight. 2025 Jul 8;10(16). doi: 10.1172/jci.insight.174235. eCollection 2025 Aug 22.
Hematopoietic protein-1 (Hem1) is a component of the WASp family verprolin-homologous protein (WAVE) actin regulatory complex, which is activated downstream of multiple immune receptors. Mutations in the NCKAP1L gene encoding HEM1 have recently been found to result in severe primary immunodeficiency disease (PID), characterized by recurrent respiratory infections, hyperinflammation, autoimmunity, and high mortality. However, how loss of Hem1 results in PID is unclear. To define the importance of Hem1 specifically in T cells, we generated constitutive and T cell-specific Hem1-null mice. Hem1-deficient T cells exhibited an increased shift from naive to memory T cells and increased ratio of immunosuppressive regulatory to effector T cells. Loss of Hem1 resulted in hallmarks of T cell exhaustion, including T cell lymphopenia, decreased activation and proliferation, increased expression of PD-1 and Tim3, and increased IL-10 production. In vitro TCR stimulation of CD4+ T cells resulted in increased production of Th1 (IFN-γ), Th2 (IL-5, IL-13), Th17 (IL-17, IL-22), and Treg (IL-10) cytokines. This correlated with reduced F-actin, increased expression of CD107a, and increased granzyme release indicative of increased granule membrane fusion and exocytosis. These results suggest that Hem1 is critical for maintaining T cell activation, homeostasis, and regulated cytokine production following antigen encounter.
造血蛋白-1(Hem1)是WASp家族维普洛林同源蛋白(WAVE)肌动蛋白调节复合物的一个组成部分,该复合物在多种免疫受体的下游被激活。最近发现,编码HEM1的NCKAP1L基因发生突变会导致严重的原发性免疫缺陷病(PID),其特征为反复呼吸道感染、过度炎症反应、自身免疫以及高死亡率。然而,Hem1缺失如何导致PID尚不清楚。为了明确Hem1在T细胞中的具体重要性,我们构建了组成型和T细胞特异性Hem1基因敲除小鼠。Hem1缺陷的T细胞表现出从幼稚T细胞向记忆T细胞的转变增加,以及免疫抑制性调节性T细胞与效应T细胞的比例增加。Hem1的缺失导致了T细胞耗竭的特征,包括T细胞淋巴细胞减少、激活和增殖降低、PD-1和Tim3表达增加以及IL-10产生增加。体外对CD4+ T细胞进行TCR刺激导致Th1(IFN-γ)、Th2(IL-5、IL-13)、Th17(IL-17、IL-22)和Treg(IL-10)细胞因子产生增加。这与F-肌动蛋白减少、CD107a表达增加以及颗粒酶释放增加相关,表明颗粒膜融合和胞吐作用增强。这些结果表明,Hem1对于维持T细胞激活、稳态以及抗原接触后细胞因子的调节性产生至关重要。