Overview
Deficiency of adenosine deaminase 2 (DADA2) is a rare genetic condition caused by mutations in the ADA2 gene (also called CECR1). This gene provides instructions for making an enzyme called adenosine deaminase 2, which plays important roles in the immune system and in maintaining healthy blood vessels. When this enzyme is missing or not working properly, it can lead to inflammation of blood vessels (vasculitis), strokes, immune problems, and blood cell abnormalities. DADA2 was first described in 2014 and affects people in many different ways. Some patients experience strokes at a very young age, even in childhood. Others may develop skin problems such as a net-like purplish rash called livedo racemosa, fevers, enlarged liver or spleen, or low blood cell counts. The disease can also cause immune deficiency, making patients more vulnerable to infections. In some cases, it mimics polyarteritis nodosa, a type of blood vessel inflammation. Treatment has improved significantly since the disease was identified. Anti-TNF biologic medications, such as etanercept and adalimumab, have been shown to dramatically reduce the risk of strokes and control inflammation in many patients. For those with severe blood cell problems or immune deficiency, bone marrow transplantation (hematopoietic stem cell transplant) may be considered. Early diagnosis and treatment are critical to preventing serious complications like strokes and organ damage.
Also known as:
Key symptoms:
Strokes, including in childhoodNet-like purplish skin rash (livedo racemosa)Recurring feversEnlarged liver or spleenLow red blood cell counts (anemia)Low white blood cell countsLow platelet countsImmune deficiency and frequent infectionsHigh blood pressureAbdominal painJoint painSkin ulcers or nodulesKidney problemsNerve damage causing numbness or weaknessBone marrow failure
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Variable
Can begin at different ages, from infancy through adulthood
Treatments
No FDA-approved treatments are currently listed for Deficiency of adenosine deaminase 2.
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Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Financial Resources
1 resourcesKygevvi
UCB, Inc.
Kygevvi Patient Support (UCB Patient Assistance)
Travel Grants
No travel grants are currently matched to Deficiency of adenosine deaminase 2.
Community
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Start the conversation →Latest news about Deficiency of adenosine deaminase 2
1 articlesCaregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.What is the severity of my (or my child's) DADA2, and which organs are affected?,Should we start anti-TNF therapy now, and which medication do you recommend?,How often will we need blood tests and imaging to monitor the disease?,Is bone marrow transplant something we should consider, and when would that be recommended?,What are the warning signs of a stroke, and what should we do in an emergency?,Are there any clinical trials or new treatments being studied for DADA2?,Should other family members be tested for this condition?
Common questions about Deficiency of adenosine deaminase 2
What is Deficiency of adenosine deaminase 2?
Deficiency of adenosine deaminase 2 (DADA2) is a rare genetic condition caused by mutations in the ADA2 gene (also called CECR1). This gene provides instructions for making an enzyme called adenosine deaminase 2, which plays important roles in the immune system and in maintaining healthy blood vessels. When this enzyme is missing or not working properly, it can lead to inflammation of blood vessels (vasculitis), strokes, immune problems, and blood cell abnormalities. DADA2 was first described in 2014 and affects people in many different ways. Some patients experience strokes at a very young a
How is Deficiency of adenosine deaminase 2 inherited?
Deficiency of adenosine deaminase 2 follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
Which specialists treat Deficiency of adenosine deaminase 2?
1 specialists and care centers treating Deficiency of adenosine deaminase 2 are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.
What treatment and support options exist for Deficiency of adenosine deaminase 2?
1 patient support program are currently tracked on UniteRare for Deficiency of adenosine deaminase 2. See the treatments and support programs sections for copay assistance, eligibility, and contact details.