LRBA deficiency

LRBA Deficiency is a rare genetic disorder characterized by immune dysregulation and autoimmunity. It is caused by mutations in the LRBA gene, which is involved in the regulation of the immune system. The condition is inherited in an autosomal recessive manner.

Symptoms and Signs

The symptoms of LRBA deficiency can vary widely among affected individuals. They may include recurrent infections, autoimmune disorders, and lymphoproliferation. Some individuals may also have non-immunological features such as developmental delay, failure to thrive, and organomegaly.

Causes

LRBA deficiency is caused by mutations in the LRBA gene. This gene provides instructions for making a protein that is involved in the regulation of the immune system. Mutations in the LRBA gene disrupt the normal function of the immune system, leading to immune dysregulation and autoimmunity.

Diagnosis

The diagnosis of LRBA deficiency is based on the clinical symptoms, laboratory findings, and confirmed by genetic testing. The genetic testing involves sequencing of the LRBA gene to identify mutations.

Treatment

The treatment of LRBA deficiency is aimed at managing the symptoms and preventing complications. This may include immunosuppressive therapy, immunoglobulin replacement therapy, and in severe cases, hematopoietic stem cell transplantation.

Prognosis

The prognosis of LRBA deficiency varies among affected individuals. It depends on the severity of the symptoms and the response to treatment.

See Also

• Autoimmune diseases
• Genetic disorders
• Immunodeficiency

References

LRBA deficiency Resources
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