Deficiency of Adenosine Deaminase 2 (DADA2)

  • Amanda OmbrelloEmail author
  • Reeval Segel


Deficiency of adenosine deaminase 2 (DADA2) is an autosomal recessive autoinflammatory disease resulting from mutations in ADA2 (formerly named CECR1). Initially described by two groups in 2014, additional reports have documented that the phenotypic expression is quite broad. Although commonly presenting in childhood, patients can present throughout their lives with varying forms of inflammatory, neurologic, hematologic, and immunologic phenotypes. Frequently reported disease manifestations include lacunar strokes, non-cirrhotic portal hypertension, immunodeficiencies, and bone marrow involvement that can include an overt pancytopenia ranging to cell-specific immune destruction. The role of adenosine deaminase 2 (ADA2) remains incompletely understood. The lack of ADA2 in patients with DADA2 results in endothelial cell fragility and a skewing of macrophage development toward the inflammatory, M1 macrophage. Current treatment options are tailored toward the individual clinical presentations but the utilization of anti-tumor necrosis factor (TNF) medications has been highly effective at reducing the risk for stroke. Hematopoietic stem cell transplant offers a potential cure for the disease.


Adenosine deaminase 2 DADA2 ADA2 Autoinflammation Polyarteritis nodosa Stroke Cytopenia Immunodeficiency Hematopoietic stem cell transplantation Anti-tumor necrosis factor drugs 



Adenosine deaminase 1


Adenosine deaminase 2


ADA-related growth factor


Cat eye syndrome chromosome region, candidate 1


Deficiency of adenosine deaminase 2


Fresh frozen plasma


Graft versus host disease


Hematopoietic stem cell transplant






Magnetic resonance angiography


National Institutes of Health


Nodular regenerative hyperplasia


Polyarteritis nodosa




Phorbol myristate acetate


Severe combined immunodeficiency


Short hairpin RNA


Tumor necrosis factor


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Copyright information

© Springer Nature Switzerland AG 2019

Authors and Affiliations

  1. 1.National Human Genome Research InstituteNational Institutes of HealthBethesdaUSA
  2. 2.Medical Genetics Institute and Pediatrics, Shaare Zedek Medical CenterHebrew University School of MedicineJerusalemIsrael

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