LRBA deficiency

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LRBA deficiency
Autosomal recessive - en.svg
Synonyms Lipopolysaccharide-responsive and beige-like anchor protein deficiency
Pronounce N/A
Specialty N/A
Symptoms Recurrent infections, autoimmune disorders, hypogammaglobulinemia, lymphoproliferation
Complications Organ damage, chronic lung disease, enteropathy
Onset Childhood
Duration Lifelong
Types N/A
Causes Mutations in the LRBA gene
Risks Family history of the condition
Diagnosis Genetic testing, immunological assays
Differential diagnosis Common variable immunodeficiency, X-linked agammaglobulinemia
Prevention N/A
Treatment Immunoglobulin replacement therapy, immunosuppressive therapy, hematopoietic stem cell transplantation
Medication N/A
Prognosis Variable, depends on severity and treatment
Frequency Rare
Deaths N/A


LRBA and CTLA4.jpg

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[edit | edit source]

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[edit | edit source]

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[edit | edit source]

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[edit | edit source]

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[edit | edit source]

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

See Also[edit | edit source]

References[edit | edit source]

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Contributors: Prab R. Tumpati, MD