Living with Combined immunodeficiency due to LRBA deficiency
A rare inherited immune condition with repeated respiratory infections and autoimmune problems such as anemia and bowel inflammation.
Understanding Combined immunodeficiency due to LRBA deficiency
People have fewer of certain immune cells and a higher chance of respiratory infections. Many also have autoimmune problems, where the body attacks itself, such as anemia, low platelets, bowel inflammation, diabetes, arthritis and skin inflammation. Some have liver, spleen or hormone problems. It starts in infancy or childhood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Repeated respiratory and ear infections
- Chronic diarrhea
- Autoimmune anemia and low platelets
- Swollen lymph nodes and enlarged spleen
- Chronic lung disease and widened airways (bronchiectasis)
- Slow growth
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include allergy and immune system specialists, digestive system specialists, genetic specialists and hormone specialists.
- 3Consider genetic testing
Changes in LRBA are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
Immune Deficiency Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Allergy and immune system specialists (allergists / immunologists); Digestive system specialists (gastroenterologists); Genetic specialists (geneticists); Hormone specialists (endocrinologists)
- Expert care
- Expert lists: Immune Deficiency Foundation
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Immune Deficiency Foundation
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in the LRBA gene are listed. It is autosomal recessive, so a child inherits a changed copy from each parent.
Also known as: cid due to lrba deficiency; combined immunodeficiency due to lipopolysaccharide-responsive beige-like anchor protein deficiency; common variable immunodeficiency 8, with autoimmunity
Patient organizations
- Immune Deficiency FoundationPrimary immunodeficiency · United States
Broader rare-disease groups
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Combined immunodeficiency due to LRBA deficiency.
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