Back to search

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...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work
57819752-c859-5b7b-80ab-8f8f5e1bcc9c
DOI
10.21203/rs.3.rs-1395115/v1
Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest
Interactive article relationship graphSelect a related publication card to move it into the centre and load its closest explainable connections. Solid lines are source-backed structured connections. Dashed lines are semantic discovery signals and are not scientific evidence.
A Novel RAC2 Mutation Causing Combined ImmunodeficiencyDOI 10.21203/rs.3.rs-1395115/v1
Select a neighboring publication to make it the new centre.