Article
A Novel RAC2 Mutation Causing Combined Immunodeficiency
2022-03-07
Abstract excerpt
<title>Abstract</title> <p>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 <italic>RAC2</italic> mutations can cause various types of primary immunodeficiency, with complete penetrance. Here, we report a novel heterozygous missense mutation in <italic>RAC2</italic> and the associated pheno...
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Identifiers and source
- Literature Corpus work
- 57819752-c859-5b7b-80ab-8f8f5e1bcc9c
- DOI
- 10.21203/rs.3.rs-1395115/v1
