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LPS-responsive beige-like anchor protein deficiency
Medical condition From Wikipedia, the free encyclopedia
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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).
This article needs additional citations for verification. (February 2019) |
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
External links
Wikiwand - on
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