LRBA deficiency
LRBA Deficiency
LRBA deficiency (pronounced: L-R-B-A deficiency), also known as LPS-responsive beige-like anchor protein deficiency, is a rare genetic disorder that affects the immune system.
Etymology
The term "LRBA" is an acronym derived from the name of the protein that is affected in this condition, the LPS-responsive beige-like anchor protein. The deficiency refers to the lack or malfunction of this protein due to mutations in the LRBA gene.
Definition
LRBA deficiency is characterized by a wide spectrum of clinical manifestations, including autoimmunity, recurrent infections, and hypogammaglobulinemia. The condition is caused by mutations in the LRBA gene, which is involved in the regulation of the immune system.
Symptoms
The symptoms of LRBA deficiency can vary greatly among affected individuals. They may include chronic diarrhea, failure to thrive, recurrent respiratory infections, and autoimmune disorders such as autoimmune hemolytic anemia and immune thrombocytopenia.
Diagnosis
Diagnosis of LRBA deficiency is based on clinical symptoms, laboratory findings, and confirmed by genetic testing showing mutations in the LRBA gene.
Treatment
Treatment for LRBA deficiency is primarily supportive and includes immunoglobulin replacement therapy, management of autoimmune manifestations, and in severe cases, hematopoietic stem cell transplantation.
Related Terms
- Autoimmunity
- Hypogammaglobulinemia
- Immune thrombocytopenia
- Autoimmune hemolytic anemia
- Hematopoietic stem cell transplantation
See Also
External links
- Medical encyclopedia article on LRBA deficiency
- Wikipedia's article - LRBA deficiency
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