Deficiency of Adenosine Deaminase 2 (DADA2)
What is deficiency of adenosine deaminase 2?
Deficiency of adenosine deaminase 2 (DADA2) is a very rare condition with only a few dozen cases recorded. As the name suggests, issues with the coding of the enzyme adenosine deaminase 2 lead to the symptoms, which are vascular and inflammatory.
What are the symptoms of deficiency of adenosine deaminase 2?
Medical professionals are still learning about the effects of this condition, as there are so few cases to study. As of now, they know that many affected individuals experience:
- Joint pain
- Enlarged lymph nodes
- Issues with the gastrointestinal system
- Kidney dysfunction
- Enlarged liver and/or spleen
- Immune deficiencies
- Cerebral hemorrhages
Not all of the affected individuals experience all of these symptoms, and they can vary in severity. The majority of effects begin in childhood.
What causes deficiency of adenosine deaminase 2?
A mutated CECRI1 gene, which is inherited in an autosomal recessive pattern, is responsible for DADA2. Because of the mutation, the enzyme adenosine deaminase 2 is not coded correctly. This results in an extreme deficiency.
How is deficiency of adenosine deaminase 2 diagnosed?
Doctors will conduct a physical exam, review a patient’s medical history, and find the characteristic symptoms. MRIs and CT scans may also be helpful in diagnosing this condition, as well as genetic testing.
What are the treatments for deficiency of adenosine deaminase 2?
Many patients have found that treatment with TNF inhibitors is successful. Other patients have found that hematopoietic stem cell transplants work. Because of the lack of knowledge about this condition, it is difficult to find an enzyme replacement therapy or cure.