Symptoms and Emergency Warning Signs

Living with LRBA deficiency means managing a complex balance between an immune system that is too active and one that cannot defend itself properly. Because the condition is so variable, your “normal” day-to-day may involve chronic symptoms that would be alarming in other children, such as loose stools or an enlarged spleen ^[1][2].

Understanding the difference between these chronic expected symptoms and a true medical emergency is a critical part of your care journey. Because baseline symptoms can mask serious infections or flares, you must work with your immunology team to create a personalized, written action plan.

Common Chronic Symptoms

Most people with LRBA deficiency experience symptoms across several different body systems. These symptoms often appear early in childhood, but they can fluctuate in intensity over time ^[3][2].

• Digestive Issues (Enteropathy): Up to 76% of patients experience enteropathy, a condition where the immune system attacks the lining of the gut ^[4]. This often looks like Inflammatory Bowel Disease (IBD), causing chronic diarrhea, abdominal pain, and difficulty gaining weight ^[1].
• Recurrent Infections: Because the immune system is poorly regulated, it may struggle to fight off germs. Recurrent pneumonia, sinus infections, and ear infections are very common ^[2][4].
• Low Blood Counts (Autoimmune Cytopenias): The immune system may mistakenly destroy its own blood cells ^[5]. This can lead to thrombocytopenia (low platelets), anemia (low red blood cells), or neutropenia (low infection-fighting white blood cells) ^[2].
• Organ Swelling (Lymphoproliferation): It is common for the spleen (splenomegaly) or liver (hepatomegaly) to become enlarged as immune cells build up inside them ^[1][6].
• Glandular Issues: Some patients develop other autoimmune conditions, such as thyroiditis (inflammation of the thyroid) or, more rarely, Type 1 Diabetes ^[2][7].

Emergency Warning Signs: When to Seek Immediate Care

In LRBA deficiency, an emergency is defined by a rapid change from your baseline, severe pain, breathing issues, or signs of systemic infection. Never assume a new or worsening symptom is ‘just the disease’ without checking with your team.

TRUE EMERGENCY: Seek Immediate Medical Attention If You See:

• Septic Shock or Severe Infection: Extreme lethargy, fast heart rate, cold/clammy skin, or altered responsiveness. Note: Because of immune dysfunction or immunosuppressive medications, a life-threatening infection can occur with a low, normal, or high fever. Follow your team’s specific fever threshold ^[8].
• Respiratory Distress: Sudden or rapidly worsening shortness of breath, blue lips or face, severe chest pain, or struggling to breathe. This can indicate severe pneumonia or interstitial lung disease ^[9][10].
• Dangerous Bleeding: Sudden, unexplained bruising; tiny red or purple spots on the skin (petechiae); or bleeding from the gums or nose that won’t stop. This can signal a sudden, severe drop in platelets ^[5][11].
• Profound Anemia: Extreme paleness, sudden yellowing of the eyes or skin (jaundice), and intense weakness or fainting, which can indicate the rapid destruction of red blood cells ^[12].
• Acute Neurologic Events: A first-time seizure, sudden confusion, severe “worst ever” headache, or a change in the ability to walk or speak. These can be signs of brain inflammation or infection ^[13][14].
• Intractable Enteropathy: Diarrhea or vomiting so severe that you cannot keep fluids down, resulting in “sunken” eyes, no tears when crying, or a significant decrease in urination (dehydration). This can lead to dangerous electrolyte imbalances ^[15][16].
• Acute Abdominal Distress: A belly that becomes suddenly hard, extremely painful, or severely bloated (distended), or severe pain after trauma (which could indicate a ruptured enlarged spleen) ^[7].

When to Call for Same-Day Advice

Contact your immunology clinic promptly for changes that aren’t immediate life-and-death emergencies but need quick medical evaluation, such as a new or worsening cough, a moderate increase in diarrhea, or a new mild fever that falls below your ER threshold.

If you observe any of these red flags, go to the nearest emergency department or call emergency services immediately. Be sure to tell the medical staff that the patient has a primary immunodeficiency called LRBA deficiency.