Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0038454 (stroke)
 147,016 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Deficiency of adenosine deaminase 2 (ADA2) due to homozygous or compound heterozygous mutations in the cat eye syndrome chromosome region, candidate 1 (CECR1) gene causes an autoimmune phenotype with systemic vasculitis affecting the skin, inner organs, and the central nervous system. Typically, stroke has been reported to follow systemic inflammatory disease and predominantly affects posterior and central brain areas. Here, we describe one of the rare patients in whom acute mesencephalic stroke preceded systemic inflammation and presented as initial clinical symptom. Symptoms typical for ADA2 deficiency such as fever, livedo racemosa, abdominal colics, arthralgias, and Raynaud phenomenon were observed later. Moreover, angiography of cerebral arteries did not reveal typical vasculitic findings supporting the hypothesis that alternative mechanism of vascular occlusion might have caused the stroke. ADA2 deficiency should be considered in patients with childhood stroke despite the absence of systemic inflammation and cerebral vasculitis.
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PMID:Stroke as Initial Manifestation of Adenosine Deaminase 2 Deficiency. 2802 9

The deficiency of adenosine deaminase 2 (DADA2) has recently been defined as a monogenetic autosomal recessive autoinflammatory disease. DADA2 is mainly characterized by high fever, livedo racemose, early-onset stroke, mild immunodeficiency and clinically polyarteritis nodosa (PAN)-like symptoms. Mutations in CECR1 (cat eye syndrome chromosome region, candidate 1) are responsible for DADA2. Livedoid racemose, lacunar infarct due to involvement in small vessel of the central nervous system, peripheral neuropathy, digital ulcers and loss of fingers are predominantly seen in the disease which could progress to end-stage organ failure and death in some patients. A wide spectrum of severity in phenotype as well as in the age of onset has been reported in the literature. This phenotypic variability is also found in our clinical practice even in patients with the same mutation. Here, we present a family diagnosed with DADA2, with the previously reported p.Gly47Arg mutation in CECR1.
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PMID:The same mutation in a family with adenosine deaminase 2 deficiency. 3154 Dec 81