About Careers Internship MedBlogs Contact us

All You Need to Know about ADA2 Protein Deficiency

Font : A-A+

What is ADA2 Protein Deficiency?

Adenosine deaminase 2 (ADA2) deficiency is a type of genetic disorder where the patient has a deficiency or reduced levels of an enzyme or protein called adenosine deaminase 2 (ADA2). The condition is also abbreviated as DADA2, which stands for deficiency of adenosine deaminase 2.


DADA2 is a relatively newly established condition. The patient suffers from inflammation of blood vessels or vasculitis, resulting in a condition called Polyarteritis nodosa is characterized by inflammation of small and medium-sized arteries. Symptoms depend on which blood vessels are affected.

ADA2 Protein Deficiency

What are the Causes of ADA2 Protein Deficiency?

ADA2 deficiency is a genetic disorder that is inherited in an autosomal recessive pattern. Individuals with the deficiency have a defect in the CECR1 gene, which is responsible for the production of ADA2 enzyme. The defect has to be present on both pairs of the chromosome for the disease to be apparent.

A defect in the gene could possibly affect inflammatory cells, resulting in excessive inflammation. The ADA2 enzyme could also possibly play an important role in maintaining the lining of blood vessels, a deficiency of the enzyme thereby affecting blood vessels.

Currently, there are very few cases diagnosed with the ADA2 deficiency. However, the gene defect as a cause of the vasculitis has been recognized only recently. Researchers feel that several patients with polyarteritis nodosa may also have the underlying gene defect. Genetic analysis of these individuals could detect many more cases of ADA2 deficiency that have gone unnoticed.

What are the Symptoms and Signs of ADA2 Protein Deficiency?

ADA2 deficiency may be detected in childhood where it may manifest as polyarteritis nodosa at an early age. Milder cases may develop symptoms only in adulthood. Symptoms depend on the organ affected as a consequence of vasculitis. Organs like the digestive tract, nervous tissue and kidneys are often affected. Symptoms and signs of ADA2 protein deficiency include the following:

  • Fever, on and off
  • Livedo reticulosa. It is a skin condition where the skin has a mottled, net-like appearance due to widening of small capillaries in the skin
  • Joint pains
  • Enlargement of lymph nodes
Symptoms and Signs of ADA2 Protein Deficiency Joint Pain
  • Enlargement of the liver and spleen
  • Repeated strokes

How to Diagnose ADA2 Protein Deficiency?

DADA2 can be suspected based on the history and physical examination of the patient. It may be suspected in a child with vasculitis, especially if there is another sibling with the same condition. Blood tests may detect inflammation and low levels of ADA2 enzyme. Definite confirmation of the condition is through genetic testing, in which the defective gene can be demonstrated.


How Do You Treat ADA2 Protein Deficiency?

Treatment of ADA2 protein deficiency is currently based on the symptoms and organ affected. However, anti-inflammatory drugs directed against the specific inflammatory reaction may produce a better effect. Etanercept has been tried out in a few cases with good result. Replacement of the absent enzyme or bone marrow transplant for the condition may be possible in the future. These treatment options however require further study.

How Do You Prevent ADA2 Protein Deficiency?

Since ADA2 is a genetic problem, genetic counseling could be used to prevent its occurrence. The condition is inherited in an autosomal recessive pattern. This pattern requires that both the parents should have at least one defective gene to pass on the condition to their children. Thus, detection of the defective gene by genetic testing followed by proper counseling of the patient can help to prevent at least some cases of DADA2.

ADA2 Protein Deficiency Prevention Genetic Testing


  1. Adenosine deaminase 2 deficiency - (http://ghr.nlm.nih.gov/condition/adenosine-deaminase-2-deficiency)
  2. NIH team discovers genetic disorder causing strokes and vascular inflammation in children - (https://www.genome.gov/27556385)
  3. Caorsi et al.: Long-term efficacy of etanercept in ADA2 deficiency. Pediatric Rheumatology 2014 12(Suppl 1):P72.

Latest Publications and Research on ADA2 Protein Deficiency

Citations   close

Please use one of the following formats to cite this article in your essay, paper or report:

  • APA

    Dr. Simi Paknikar. (2015, November 17). ADA2 Protein Deficiency - Causes, Symptoms, Signs, Diagnosis, Treatment, Prevention. Medindia. Retrieved on May 21, 2022 from https://www.medindia.net/patients/patientinfo/ada2-protein-deficiency.htm.

  • MLA

    Dr. Simi Paknikar. "ADA2 Protein Deficiency - Causes, Symptoms, Signs, Diagnosis, Treatment, Prevention". Medindia. May 21, 2022. <https://www.medindia.net/patients/patientinfo/ada2-protein-deficiency.htm>.

  • Chicago

    Dr. Simi Paknikar. "ADA2 Protein Deficiency - Causes, Symptoms, Signs, Diagnosis, Treatment, Prevention". Medindia. https://www.medindia.net/patients/patientinfo/ada2-protein-deficiency.htm. (accessed May 21, 2022).

  • Harvard

    Dr. Simi Paknikar. 2021. ADA2 Protein Deficiency - Causes, Symptoms, Signs, Diagnosis, Treatment, Prevention. Medindia, viewed May 21, 2022, https://www.medindia.net/patients/patientinfo/ada2-protein-deficiency.htm.

Post a Comment

Comments should be on the topic and should not be abusive. The editorial team reserves the right to review and moderate the comments posted on the site.

Health Topics A - Z

    What's New on Medindia
    Prevent Hacking of Medical Devices: FDA Sounds Alarm
    Black Water: Benefits and Uses
    World Hypertension Day 2022 - Measure Blood Pressure Accurately, Control It, Live Longer!
    View all

    Medindia Newsletters Subscribe to our Free Newsletters!
    Terms & Conditions and Privacy Policy.

    Most Popular on Medindia

    Turmeric Powder - Health Benefits, Uses & Side Effects Post-Nasal Drip The Essence of Yoga Noscaphene (Noscapine) Color Blindness Calculator Selfie Addiction Calculator Sanatogen Blood Pressure Calculator Indian Medical Journals Iron Intake Calculator

    Disclaimer - All information and content on this site are for information and educational purposes only. The information should not be used for either diagnosis or treatment or both for any health related problem or disease. Always seek the advice of a qualified physician for medical diagnosis and treatment. Full Disclaimer

    © All Rights Reserved 1997 - 2022

    This site uses cookies to deliver our services. By using our site, you acknowledge that you have read and understand our Cookie Policy, Privacy Policy, and our Terms of Use
    open close