National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Adenosine Deaminase 2 deficiency


Other Names:
Vasculitis due to DADA2; Vasculitis due to ADA2 deficiency; Polyarteritis nodosa, childhood-onset; Vasculitis due to DADA2; Vasculitis due to ADA2 deficiency; Polyarteritis nodosa, childhood-onset; ADA2 deficiency; Childhood-onset polyarteritis nodosa; DADA2 See More
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Adenosine Deaminase 2 deficiency is an inherited disorder causing inflammation in the body, especially in the tissues that make up the blood vessels (vasculitis). [1][2] Though the severity and age of onset can vary, most patients begin having symptoms within the first decade of life. Symptoms may include the following: recurrent strokes, fevers, muscle pain, an enlarged liver or spleen, and areas of skin discoloration known as livedo racemosa or livedo reticularis. [1] The strokes can affect physical or cognitive functioning. [3] Other symptoms may include high blood pressure, aneurysms, immune system abnormalities, and necrosis of the fingers/toes. [1] ADA2 deficiency is thought to be caused by mutations in the CECR1 gene and inherited in an autosomal recessive manner. [1][3] Mutations in the CECR1 gene have also been associated with a familial form of Sneddon syndrome. Individuals with this form of Sneddon syndrome have been reported to have similar findings as those with ADA2 deficiency but with a later onset.[4] 
Last updated: 2/19/2016

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms Other Names
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HPO ID
5%-29% of people have these symptoms
Anemia
Low number of red blood cells or hemoglobin
0001903
Decreased circulating antibody level 0004313
Hypertension 0000822
Leukocytosis
Elevated white blood count
High white blood count
Increased blood leukocyte number
[ more ] 		0001974
Lupus anticoagulant 0025343
Optic atrophy 0000648
1%-4% of people have these symptoms
Elevated hepatic transaminase
High liver enzymes
0002910
Esophageal varix
Enlarged vein in esophagus
0002040
Hepatomegaly
Enlarged liver
0002240
Leukopenia
Decreased blood leukocyte number
Low white blood cell count
[ more ] 		0001882
Pancytopenia
Low blood cell count
0001876
Portal hypertension 0001409
Splenomegaly
Increased spleen size
0001744
Stroke 0001297
Thrombocytosis
Increased number of platelets in blood
0001894
Urticarial plaque 0030351
Percent of people who have these symptoms is not available through HPO
Abdominal pain
Pain in stomach
Stomach pain
[ more ] 		0002027
Agitation 0000713
Aphasia
Difficulty finding words
Losing words
Loss of words
[ more ] 		0002381
Arthritis
Joint inflammation
0001369
Ataxia 0001251
Autosomal recessive inheritance 0000007
Cutis marmorata 0000965
Dilatation
Wider than typical opening or gap
0002617
Erythema nodosum 0012219
Fever 0001945
Headache
Headaches
0002315
Hemiplegia
Paralysis on one side of body
0002301
Immunodeficiency
Decreased immune function
0002721
Myalgia
Muscle ache
Muscle pain
[ more ] 		0003326
Ophthalmoplegia
Eye muscle paralysis
0000602
Panniculitis
Inflammation of fat tissue
0012490
Peripheral neuropathy 0009830
Purpura
Red or purple spots on the skin
0000979
Raynaud phenomenon 0030880
Variable expressivity 0003828
Vasculitis
Inflammation of blood vessel
0002633
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Last updated: 7/1/2020

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

In-Depth Information

  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.

  1. Polyarteritis Nodosa, Childhood-Onset; PAN. Online Mendelian Inheritance in Man (OMIM). August 6, 2014; http://www.omim.org/entry/615688. Accessed 2/19/2016.
  2. Deficiency of Adenosine Deaminase 2 (DADA2). Cedars-Sinai. http://www.cedars-sinai.edu/Patients/Health-Conditions/Deficiency-of-Adenosine-Deaminase-2-DADA2-.aspx. Accessed 2/19/2016.
  3. Zhou, Q, et al.. Early-onset stroke and vasculopathy associated with mutations in ADA2. New England Journal of Medicine. Mar 6, 2014; 370(10):911-20. http://www.ncbi.nlm.nih.gov/pubmed/?term=24552284. Accessed 2/19/2016.
  4. Bras, Jose and Guerreiro, Rita, and Santo, Gustavo. Mutant ADA2 in vasculopathies. New England Journal of Medicine. 371:478-80. http://www.ncbi.nlm.nih.gov/pubmed/?term=25075844. Accessed 2/19/2016.