LPS-responsive beige-like anchor protein deficiency
# 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.

