IKAROS is a pioneer protein of the IKZF family of transcription factors that plays an essential role in lymphocyte development. Recently, inborn errors of IKAROS have been identified in patients with B cell deficiency and hypogammaglobulinemia, and these patients often present with recurrent sinopulmonary infection. Autoimmunity and hematologic malignancies are other characteristic complications seen in the patients with IKAROS deficiency. Missense mutation involving asparagine at the 159th position results in combined immunodeficiency, often presenting with Pneumocystis jirovecii pneumonia. Inborn errors of AIOLOS, HELIOS, and PEGASUS have also been reported in patients with B cell deficiency, Evans syndrome, and hereditary thrombocytopenia, respectively. Here, we briefly review the phenotype and genotype of IKZF mutations, especially IKAROS.

IKAROS 是 IKZF 转录因子家族的先驱蛋白，在淋巴细胞发育中起重要作用。最近，在 B 细胞缺乏和低丙种球蛋白血症的患者中发现了 IKAROS 的先天性错误，这些患者经常出现复发性窦肺感染。自身免疫和血液系统恶性肿瘤是 IKAROS 缺乏症患者的其他特征性并发症。涉及第 159 位天冬酰胺的错义突变导致联合免疫缺陷，通常表现为Pneumocystis jirovecii肺炎。AIOLOS、HELIOS 和 PEGASUS 的先天性错误也分别在 B 细胞缺乏症、埃文斯综合征和遗传性血小板减少症患者中得到报道。在这里，我们简要回顾一下 IKZF 突变的表型和基因型，尤其是 IKAROS。