Abstract
Here we describe a new genetic disease characterized by fevers and systemic inflammation, livedo reticularis, mild immunodeficiency, and early-onset recurrent lacunar strokes in 5 unrelated patients.
Highlights
We describe a new genetic disease characterized by fevers and systemic inflammation, livedo reticularis, mild immunodeficiency, and early-onset recurrent lacunar strokes in 5 unrelated patients
Computer modeling based on the crystal structure of the human adenosine deaminase 2 (ADA2) protein suggests that CECR1 mutations either disrupt protein stability or impair ADA2 enzyme activity
Whereas the ADA1 protein, which is mutated in some patients with severe combined immunodeficiency disease, is an intracellular protein that catalyzes the conversion of adenosine to inosine, ADA2 is expressed predominantly in myeloid cells and secreted into the blood, and has a lower affinity for adenosine than ADA1
Summary
OR13-001 Loss-of-function mutations in CECR1, encoding adenosine deaminase 2 (ADA2), cause recurrent fevers and early onset strokes Introduction Here we describe a new genetic disease characterized by fevers and systemic inflammation, livedo reticularis, mild immunodeficiency, and early-onset recurrent lacunar strokes in 5 unrelated patients. Results The 5 unrelated patients shared 3 missense mutations in CECR1, encoding adenosine deaminase 2 (ADA2), with the genotypes A109D/Y453C, Y453C/G47A, G47A/ H112Q, R169Q/Y453C, and R169Q/28kb genomic deletion encompassing the 5’UTR and first exon of CECR1.
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