RAC2 and primary human immune deficiencies.

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. ©2020 Society for Leukocyte Biology.

Citation

Vassilios Lougaris, Manuela Baronio, Luisa Gazzurelli, Alessio Benvenuto, Alessandro Plebani. RAC2 and primary human immune deficiencies. Journal of leukocyte biology. 2020 Aug;108(2):687-696

Mesh Tags

Substances

PMID: 32542921

search → result