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 presentation of this condition is variable making the diagnosis difficult. The most common features include
There is also a tendency to develop inflammatory bowel disease.
The LBRA gene is located on the long arm of chromosome 4 (4q31.3).
LBRA protein interacts with the protein CTLA4. The absence of LBRA increases the turnover of CTLA4 and interferes with vesicle trafficking.
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.
This condition was first described in 2012.