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LPS-responsive beige-like anchor protein deficiency

Medical condition From Wikipedia, the free encyclopedia

LPS-responsive beige-like anchor protein deficiency
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LPS-responsive beige-like anchor protein deficiency is a rare genetic condition caused by the absence of LPS-responsive beige-like anchor protein (LRBA).

Quick facts

Signs and symptoms

The presentation of this condition is variable making the diagnosis difficult. The most common features include[1]

  • 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).[citation needed]

Pathogenesis

LBRA protein interacts with the protein CTLA4. The absence of LBRA increases the turnover of CTLA4 and interferes with vesicle trafficking.[citation needed]

Diagnosis

Differential diagnosis

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.[1]

History

This condition was first described in 2012.[2]

References

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