title: LPS-responsive beige-like anchor protein deficiency
text: # 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
  
  The LBRA gene is located on the long arm of chromosome 4 (4q31.3).
  
  ## Pathogenesis
  
  LBRA protein interacts with the protein CTLA4. The absence of LBRA increases the turnover of CTLA4 and interferes with vesicle trafficking.
  
  ## Diagnosis
  
  ### Differential diagnosis
  
  * Common variable immunodeficiency
  * IPEX syndrome
  
  ## 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
  
  This condition was first described in 2012.
  
  