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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).

Signs and symptoms
The presentation of this condition is variable making the diagnosis difficult. The most common features include • Immune dysregulation (95%) • Organomegaly (86%) • Recurrent infections (71%) • Hypogammaglobulinemia (57%) • Granulomatous lymphocytic interstitial lung disease (38%) There is also a tendency to develop inflammatory bowel disease. ==Genetics==
Genetics
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==
Diagnosis
Differential diagnosisCommon variable immunodeficiencyIPEX syndrome ==Management==
Management
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==
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