Living with A20 haploinsufficiency
A genetic immune condition that causes repeated inflammation, with mouth ulcers, fevers, rashes, and stomach and joint problems.
Understanding A20 haploinsufficiency
The most common signs are painful mouth or genital ulcers, recurring fevers, skin rashes, stomach and bowel problems, and joint pain or arthritis. Less common findings include swollen lymph nodes, liver inflammation, and brain or nerve problems. It varies from person to person, and even within a family, with different body systems affected at different times.
Signs & symptoms
GARD doesn't list a symptom list for this condition yet. The summary describes these as the most common:
- Painful mouth or genital ulcers
- Recurrent fevers
- Skin rashes
- Stomach or bowel inflammation
- Joint pain or arthritis
- Swollen lymph nodes
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
Your doctor may refer you to a specialist who knows rare conditions.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- A doctor familiar with rare conditions, plus specialists as needed
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- 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 rare disease patient organizations for support
- 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
GARD describes this as a genetic immune condition, but doesn't list a specific gene or inheritance pattern in this record.
Also known as: ha20; ha20 (haploinsufficiency a20); haploinsufficiency of a20
Patient organizations
Rare-disease groups that can help
- 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 A20 haploinsufficiency.
Explore research for A20 haploinsufficiency
Explore actively recruiting A20 haploinsufficiency studies with HealthSpark.
Find actively recruiting studies for A20 haploinsufficiency with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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