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LPS-responsive beige-like anchor protein deficiency
LPS-responsive beige-like anchor protein deficiency is a rare genetic condition caused by the absence of LPS-responsive beige-like anchor protein (LRBA).
The LBRA gene is located on the long arm of chromosome 4 (4q31.3). ==Pathogenesis==
Pathogenesis
LBRA protein interacts with the protein CTLA4. The absence of LBRA increases the turnover of CTLA4 and interferes with vesicle trafficking. ==Diagnosis==
Along with treatment for infections and other complications several additional treatments have been tried. These include hematopoietic stem cell transplantation, immunoglobulin replacement and immunosuppressive treatment. ==History==
History
This condition was first described in 2012. ==References==