Article

Combined Immunodeficiency Caused by a Novel De Novo Gain-of-Function RAC2 Mutation

2022-02-11

Abstract excerpt

<title>Abstract</title> <p>Ras-related C3 botulinum toxin substrate 2 (RAC2) is a GTPase exclusively expressed in hematopoietic cells, that acts as a pivotal regulator of several aspects of cell behavior via various cellular processes. RAC2 undergoes a tightly-regulated GTP-binding/GTP-hydrolysis cycle, enabling it to function as a molecular switch. Mutations in <italic>RAC2</italic> have been identified in 18 pa...

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Literature Corpus work: 658088b4-b9a1-5d0e-9e2f-85937245b43b
DOI: 10.21203/rs.3.rs-1303580/v1

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