Encyclopedia of Medical Immunology

Living Edition
| Editors: Ian MacKay, Noel R. Rose


  • Amanda K. OmbrelloEmail author
Living reference work entry
DOI: https://doi.org/10.1007/978-1-4614-9209-2_118-1



The deficiency of adenosine deaminase type 2 (DADA2) is an autosomal recessive disease resulting from biallelic, loss-of-function mutations in ADA2 (formerly known as CECR1), located in chromosome 22q11.1. DADA2 is characterized by systemic vasculitis and features of both autoinflammation and immunodeficiency (MIM#615688).

Introduction and Background

DADA2 was initially reported in 2014 in patients who presented with inflammatory phenotypes that resembled vasculitis and polyarteritis nodosa (PAN) and recurrent ischemic and/or hemorrhagic strokes (Zhou et al. 2014; Navon Elkan et al. 2014). Since the initial publications, the clinical phenotype has expanded significantly to include additional disease manifestations. The identification of DADA2 expands the family of adenosine deaminase-related diseases from the most commonly known severe combined immune...

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Copyright information

© This is a U.S. Government work and not under copyright protection in the U.S.; foreign copyright protection may apply 2020

Authors and Affiliations

  1. 1.National Human Genome Research Institute, National Institutes of HealthBethesdaUSA

Section editors and affiliations

  • Raphaela Goldbach-Mansky
    • 1
  1. 1.Translational Autoinflammatory Diseases Section (TADS)National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH)BethesdaUSA