Syndromic autoimmune enteropathy due to LRBA deficiency

LRBA deficiency is a rare inherited immune system disorder caused by changes (mutations) in the LRBA gene. It is also sometimes called 'Common Variable Immunodeficiency with LRBA deficiency' or 'LRBA-related immune dysregulation syndrome.' The condition belongs to a group of diseases called primary immunodeficiencies, meaning the immune system does not work properly from birth due to a genetic cause. One of the most prominent features is autoimmune enteropathy — a condition where the immune system mistakenly attacks the lining of the gut, causing severe, long-lasting diarrhea, poor nutrient absorption, and significant weight loss or poor growth in children. Beyond the gut, LRBA deficiency affects many parts of the body. The immune system becomes overactive in some ways (attacking the body's own tissues) and underactive in others (failing to fight infections properly). This leads to a wide range of problems including recurrent infections, enlarged lymph nodes and spleen, lung disease, low blood counts, and inflammation in multiple organs. Children are most commonly affected, though the severity and exact symptoms can vary widely from person to person. Treatment focuses on controlling the overactive immune response and preventing infections. A medication called abatacept has shown significant benefit for many patients and is increasingly used as a targeted therapy. Hematopoietic stem cell transplantation (bone marrow transplant) is currently the only potentially curative option. Without proper treatment, the disease can be life-threatening, but early diagnosis and appropriate management have greatly improved outcomes for many patients.

Bring these to your next appointment

• Q1.What genetic testing do you recommend to confirm the diagnosis, and should other family members be tested?,Is my child a candidate for abatacept, and what are the expected benefits and risks?,Should we be evaluated for a bone marrow transplant, and what would that process look like?,What infections should we be most worried about, and what vaccinations are safe to give?,How will we monitor for organ complications like lung or liver disease over time?,Are there clinical trials or research studies we should consider enrolling in?,What support services — nutritional, psychological, or educational — are available for our family?

Common questions about Syndromic autoimmune enteropathy due to LRBA deficiency