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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...