RAC2 is a GTPase that is exclusively expressed in hematopoietic cells. Animal models have suggested important roles for RAC2 in the biology of different cell types, such as neutrophils and lymphocytes. Primary immunodeficiencies represent “experimentum naturae” and offer priceless insight on the function of the human immune system. Mutations in RAC2 have been identified in a small number of patients giving rise to different forms of primary immunodeficiencies ranging from granulocyte defects caused by dominant negative mutations to combined immunodeficiency due to dominant activating mutations. This review will focus on the clinical and immunologic phenotype of patients with germline mutations in RAC2.

中文翻译：

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RAC2和主要的人类免疫缺陷。

RAC2是一种GTP酶，仅在造血细胞中表达。动物模型表明，RAC2在嗜中性粒细胞和淋巴细胞等不同细胞类型的生物学中具有重要作用。原发性免疫缺陷代表“自然实验”，并为人类免疫系统的功能提供了无价的见解。已经在少数患者中发现了RAC2突变，引起了不同形式的原发性免疫缺陷，从主要的负突变引起的粒细胞缺陷到主要的激活突变引起的联合免疫缺陷。这项审查将侧重于RAC2中具有种系突变的患者的临床和免疫表型。