RAC2 loss-of-function mutation in 2 siblings with characteristics of common variable immunodeficiency.
case_report · Level V
Where this comes from
- Record sourced from PubMed, PMID 25512081.
- Also identified by DOI 10.1016/j.jaci.2014.10.039 and PMC identifier 4426222.
- No licence information is recorded for this record.
- Because redistribution is not established, this page shows the abstract only. Follow the links below for the full text.
Abstract
We report the first patients with a homozygous loss of function mutation in the <i>RAC2</i> gene, presenting with clinical features of common variable immunodeficiency. In addition, the patients suffered from glomerulonephritis, coagulopathy, multiple hormone deficiencies potentially on the autoimmune basis and abnormalities of neutrophil granules.
Medical subject headings
- Common Variable Immunodeficiency
- Mutation
- rac GTP-Binding Proteins