Article
Identifying functional defects in patients with immune dysregulation due to LRBA and CTLA-4 mutations.
Blood - 16 Mar 2017
Hou Tie Zheng, Verma Nisha, Wanders Jennifer, Kennedy Alan, Soskic Blagoje, Janman Daniel, Halliday Neil, Rowshanravan Behzad, Worth Austen, Qasim Waseem, Baxendale Helen, Stauss Hans, Seneviratne Suranjith, Neth Olaf, Olbrich Peter, Hambleton Sophie, Arkwright Peter D, Burns Siobhan O, Walker Lucy S K, Sansom David M
Abstract excerpt
Heterozygous CTLA-4 deficiency has been reported as a monogenic cause of common variable immune deficiency with features of immune dysregulation. Direct mutation in CTLA-4 leads to defective regulatory T-cell (Treg) function associated with impaired ability to control levels of the CTLA-4 ligands, CD80 and CD86. However, additional mutations affecting the CTLA-4 pathway, such as those recently reported for LRBA,...
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