Living with Autoinflammatory syndrome, familial, Behcet-like 1
A genetic immune condition (HA20) with recurring mouth and genital ulcers, fevers, rashes, and gut and joint inflammation.
Understanding Autoinflammatory syndrome, familial, Behcet-like 1
The most common signs are repeated painful mouth and genital ulcers, recurring fevers, skin rashes, gut inflammation, and joint pain or arthritis. Less common problems include swollen lymph nodes, liver inflammation, and brain and nerve involvement. Which body systems are affected varies and can change over time, even within one family.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Painful mouth ulcers
- Genital ulcers
- Joint swelling and arthritis
- Skin rash
- Recurring fevers
- Belly pain and bowel inflammation
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 autoimmune and inflammatory disease specialists, allergy and immune system specialists, genetic specialists and skin, hair, and nail specialists.
- 3Consider genetic testing
Changes in TNFAIP3 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
- autoimmune and inflammatory disease specialists (rheumatologists); Allergy and immune system specialists (allergists / immunologists); Genetic specialists (geneticists); Skin, hair, and nail specialists (dermatologists)
- 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 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
GARD says changes in the TNFAIP3 gene cause this condition. It is autosomal dominant, meaning one changed copy of the gene can be enough to cause it.
Also known as: aifbl1; behçet-like disease due to ha20; behçet-like disease due to haploinsufficiency of a20; hereditary paediatric behçet-like disease; hereditary pediatric behçet-like disease
Patient organizations
- Immune Deficiency FoundationPrimary immunodeficiency · United States
- Children's Skin Disease FoundationSkin diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Autoinflammatory syndrome, familial, Behcet-like 1.
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