Living with X-linked agammaglobulinemia
An inherited immune condition with very low antibody levels, causing frequent bacterial infections starting around 6 months.
Understanding X-linked agammaglobulinemia
Repeated bacterial infections usually start from about 6 months of age. Common ones include pneumonia, bronchitis, ear infections, pink eye, sinus infections, skin infections, and infections linked with chronic diarrhea.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Repeated pneumonia
- Chronic ear infections
- Sinus infections
- Pink eye (conjunctivitis)
- Chronic diarrhea
- Skin infections
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 and genetic specialists.
- 3Consider genetic testing
Changes in BTK 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); Genetic specialists (geneticists)
- 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 Jeffrey Modell Foundation and other patient organizations
- 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
X-linked agammaglobulinemia is caused by changes in the BTK gene. It is inherited in an X-linked recessive way.
Also known as: agammaglobulinemia, bruton tyrosine kinase; agammaglobulinemia, btk; agammaglobulinemia, x-linked 1, x-linked recessive; agammaglobulinemia, x-linked, type 1; bruton agammaglobulinemia tyrosine kinase deficiency; bruton type agammaglobulinemia
Patient organizations
- Jeffrey Modell FoundationX-linked agammaglobulinemia · United States
- XLA LifeX-linked agammaglobulinemia · United States
- Immune Deficiency FoundationPrimary immunodeficiency · United States
You are more than your diagnosis
Perspectives from people navigating life with X-linked agammaglobulinemia.
Explore research for X-linked agammaglobulinemia
Explore actively recruiting X-linked agammaglobulinemia studies with HealthSpark.
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- Recruiting studies from ClinicalTrials.gov
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- Eligibility is confirmed by the study team
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