Atypical phenotype of an old disease or typical phenotype of a new disease: deficiency of adenosine deaminase 2

Abstract

phenotype of an old disease or typical phenotype of a new disease: deficiency of adenosine deaminase 2. Turk J Pediatr 2019; 61: 413-417. Deficiency of adenosine deaminase 2 (DADA2) is an autosomal recessive autoinflammatory disorder caused by mutations in CECR1 (cat eye syndrome chromosome region, canditate 1) gene, which encodes the enzyme adenosine deaminase 2 necessary for endothelial cell survival and function. The diversity of the clinical phenotypes associated with DADA2 include polyarteritis nodosa-like vasculitic features, early-onset stroke, mild to severe immunodeficiency and cytopenias. The diagnosis of the disease may be difficult due to complex clinical phenotype. Herein, we present a case of DADA2 presenting with vasculitis, amarousis fugax, gastrointestinal bleeding and silent lacunar infarct successfully treated with etanercept.

A Case of Deficiency of Adenosine Deaminase 2: 28 years of Diagnostic Challenges

“…Batu et al [16] case series, reported 1 patient with intestinal renal involvement from amyloidosis; also another one reported 1 patient treated with canakinumab for AA amyloidosis secondary to DADA2 with good outcomes [17]. Advances in sequencing technologies and international collaborations led to a better knowledge of mechanisms driving to autoinflammatory diseases, and many new disorders have been reported recently [1]. Initially, described in 2014, DADA2 is recognized as a mimic of PAN with primary features of early-onset strokes, peripheral vasculopathy, and systemic inflammation [2].…”

“…Advances in sequencing technologies and international collaborations led to a better knowledge of mechanisms driving to autoinflammatory diseases, and many new disorders have been reported recently [ 1 ]. Initially, described in 2014, DADA2 is recognized as a mimic of PAN with primary features of early-onset strokes, peripheral vasculopathy, and systemic inflammation [ 2 ].…”

“…Initially, described in 2014, DADA2 is recognized as a mimic of PAN with primary features of early-onset strokes, peripheral vasculopathy, and systemic inflammation [ 2 ]. Most of the cases had been diagnosed as PAN or undefined vasculitis and autoinflammatory syndrome [ 1 ], as in this case. The disease is caused by autosomal recessive loss-of-function mutations in the CERC1 gene, which encodes ADA2 enzyme [ 18 ].…”

“…Interestingly, it was one of the most recurrent findings in this case. Stenosis and/or aneurysms of middle sized arteries like renal, mesenteric, hepatic, and celiac arteries are also usual findings both in PAN and DADA2 [ 1 ]. Our patient met all of these criteria and also had 2 major hemorrhagic events and gastrointestinal and neurologic (reports describe about 14% and 12% of these events, respectively) [ 5 ].…”

“…Deficiency of adenosine deaminase 2 (DADA2), first described in 2014, is an autoinflammatory disorder characterized by signs and symptoms of systemic small- and medium-vessel vasculitis and inflammation including early-onset stroke (both, ischemic and hemorrhagic), livedo racemosa, and recurrent fevers [ 1 ]. The disease is caused by autosomal recessive loss-of-function mutations in the CECR1 (cat eye syndrome chromosome region, candidate) [ 1 , 2 ]. Since its initial description, as mimic of systemic polyarteritis nodosa (sPAN), the clinical spectrum of this condition has expanded considerably [ 3 ].…”