Living with Deficiency of adenosine deaminase 2
A genetic condition that causes unprovoked inflammation in the blood vessels and other tissues.
Understanding Deficiency of adenosine deaminase 2
Inflammation of blood vessels is called vasculitis. The skin, digestive system, liver, kidneys, and nervous system can also be affected. Symptoms can start anywhere from early childhood to adulthood, and severity varies even within a family.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Lacy, mottled skin pattern (cutis marmorata)
- Weakened immune system (immunodeficiency)
- Enlarged liver and spleen
- Low white blood cell counts
- Eczema
- Trouble finding words (aphasia)
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 and genetic specialists.
- 3Consider genetic testing
Changes in ADA2 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
Vasculitis Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- autoimmune and inflammatory disease specialists (rheumatologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: Vasculitis 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 Vasculitis 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
Changes in the ADA2 gene cause this condition. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: ada2 deficiency; adenosine deaminase 2 deficiency; childhood-onset polyarteritis nodosa; dada2; polyarteritis nodosa, childhood-onset; polyarteritis nodosa, childhoood-onset
Patient organizations
- Vasculitis FoundationDeficiency of adenosine deaminase 2 · United States
- DADA2 FoundationDeficiency of adenosine deaminase 2 · United States
You are more than your diagnosis
Perspectives from people navigating life with Deficiency of adenosine deaminase 2.
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