The presence of large granular lymphocytes has been reported in patients with ADA2 deficiency and T-LGL leukemia. Here we describe two siblings with novel ADA2 variants, expanding the mutational spectrum of ADA2 deficiency. We show that lymphoproliferation, persistence of large granular lymphocytes, T-cell perturbations, and activation of PI3K pathway, measured by means of phosphorylation levels of S6, are detectable in DADA2 patients without T-LGL leukemia.

中文翻译：

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呈现新的ADA2变体的两个兄弟姐妹，淋巴细胞增殖，大颗粒淋巴细胞的持久性和T细胞扰动。

据报道，ADA2缺乏和T-LGL白血病患者存在大颗粒淋巴细胞。在这里，我们描述了具有新ADA2变体的两个兄弟姐妹，从而扩大了ADA2缺陷的突变谱。我们显示，在没有T-LGL白血病的DADA2患者中，可检测到淋巴细胞增殖，大颗粒淋巴细胞的持久性，T细胞扰动和PI3K途径的活化（通过S6的磷酸化水平测量）。