Health condition
LRBA deficiency
LRBA deficiency is a rare recessive immune dysregulation disorder closely related to CTLA-4 haploinsufficiency - LRBA protein normally protects CTLA-4 from destruction - causing early-onset autoimmunity, enteropathy, recurrent infections and organ infiltration, and responding to the same targeted therapy.
Why trust this guide
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Editorial team
Written by our editorial team from the UK sources listed on each page.
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Sourced from guidance
Checked against current NHS and UK specialist society guidance at the time of review.
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Current for 2026
Reviewed on 2026-09-27 with the next review scheduled for 2027-09-27.
Key facts
The essentials at a glance.
The symptoms to recognise, when to seek help, which specialist to see, and what treatment usually involves.
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Recessive LRBA gene variants (two faulty copies) deplete CTLA-4, since LRBA recycles it inside cells - consanguinity raises the odds
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Typical onset is in childhood: autoimmune cytopenias, chronic diarrhoea and enteropathy, hypogammaglobulinaemia, enlarged spleen and nodes, and lung disease
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Milder or atypical cases reach adult clinics carrying labels like CVID, ALPS-like disease, or inflammatory bowel disease
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Because the mechanism converges on CTLA-4, abatacept is a rational and often effective therapy; stem cell transplant can cure severe disease
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Diagnosis is by gene panel; protein-level LRBA testing supports interpretation of uncertain variants
Understanding the condition
What it is and what happens next.
What causes it, how it is diagnosed, and the treatment routes available in the UK.
What it is and how it feels
The immune system's brake pedal, CTLA-4, is constantly swallowed back into the cell and either recycled or destroyed; LRBA is the protein that steers it back to the surface. Lose LRBA and the brake wears away - functionally the same failure as CTLA-4 haploinsufficiency but usually earlier and harsher, with relentless gut inflammation, autoimmune destruction of blood cells, thyroid and other endocrine attack, and lymphocytes infiltrating lungs and other organs, all layered over failing antibody production and its infections.
Diagnosis and treatment routes
The diagnostic route is a primary immunodeficiency gene panel, ideally before years of partially effective immunosuppression accumulate; a confirmed result redirects therapy toward abatacept, with sirolimus, immunoglobulin replacement and nutritional support as companions, and haematopoietic stem cell transplantation offering cure for the severest, particularly younger, patients. Sibling testing is essential given recessive inheritance. A childhood-onset mix of enteropathy, cytopenias and infections that has never had genetic testing deserves it now; private immunology appointments are typically available within about two weeks.
Seeing a specialist
Who to see, and how quickly you can be seen.
The specialist for this condition is usually a consultant clinical immunologist. Your GP can refer you on the NHS, or you can arrange a private consultation directly.
A quiet reminder
This guide is for information, not medical advice.
Your GP knows your history and can tell you which parts apply to you. If in doubt, see them - and seek urgent care for any of the emergency symptoms described above.
Frequently asked
Common questions about LRBA deficiency.
Quick, plain-English answers to what people ask us most.
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What is LRBA deficiency?
LRBA deficiency is a rare inherited immune condition causing a combination of increased susceptibility to infections and autoimmune complications, due to dysfunction in a protein important for regulating immune cell activity. It's a type of common variable immunodeficiency with additional autoimmune features.
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What causes LRBA deficiency?
It's caused by mutations in the LRBA gene, which normally helps regulate immune cell function, inherited in an autosomal recessive pattern, meaning both parents typically carry a copy of the faulty gene. This leads to both impaired antibody production and dysregulated immune activity.
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What are the symptoms of LRBA deficiency?
Symptoms include recurrent infections due to low antibody levels, alongside autoimmune complications such as low blood counts from immune destruction, inflammatory bowel disease, or lung disease. The combination and severity of features can vary between affected individuals.
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Is LRBA deficiency dangerous?
Yes, it can cause significant health complications from both recurrent infections and autoimmune organ damage if not properly managed, making early diagnosis and comprehensive treatment important. With appropriate specialist management, outcomes have improved significantly, particularly with newer targeted treatments.
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Is LRBA deficiency genetic?
Yes, it's an inherited genetic condition, and genetic testing can confirm the diagnosis and guide family counselling regarding recurrence risk for future children. Testing of siblings may also be relevant depending on family circumstances.
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Can LRBA deficiency be treated?
Yes, treatment includes immunoglobulin replacement for antibody deficiency, and specific targeted medications (such as abatacept or sirolimus) that address the underlying immune dysregulation causing autoimmune complications. In severe cases, stem cell transplant may be considered.
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How is LRBA deficiency treated?
Treatment typically combines regular immunoglobulin replacement therapy to reduce infection risk with specific immune-modulating medication targeted at the underlying dysregulation driving autoimmune complications. A specialist immunology team will tailor treatment based on your specific pattern of symptoms.
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How is LRBA deficiency diagnosed?
Diagnosis involves blood tests assessing immunoglobulin levels and immune cell function, alongside genetic testing to confirm mutations in the LRBA gene. A detailed history of infections and any autoimmune features supports the diagnostic process.
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LRBA deficiency vs common variable immunodeficiency — what's the difference?
Both cause low antibody levels and recurrent infections, but LRBA deficiency specifically also involves prominent autoimmune complications due to a specific genetic mutation affecting immune regulation, distinguishing it as a specific genetic subtype within the broader category of antibody deficiencies. Genetic testing identifies this specific cause, which is important because it opens up specific targeted treatment options.
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When should I see a specialist about LRBA deficiency, and how quickly can I be seen privately?
Recurrent infections combined with autoimmune features, particularly in a child, should prompt immunology referral for thorough assessment. Private immunology consultations can typically be arranged within about two weeks, considerably faster than standard NHS waiting times.