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A Novel RAC2 Mutation Causing Combined Immunodeficiency.
[PURPOSE] Ras-related C3 botulinum toxin substrate 2 (RAC2) acts as a molecular switch and has crucial roles in cell signaling and actin dynamics. A broad spectrum of genetic RAC2 mutations can cause various types of primary immunodeficienc…
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Combined Immunodeficiency Caused by a Novel De Novo Gain-of-Function RAC2 Mutation.
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 regulat…