Abstract
Methods Pediatric patients of Caucasian Italian origin with the following diseases/manifestations were included in the study: i) histologically confirmed polyartiritis nodosa (PAN) or cutaneous polyartiritis nodosa (cPAN), ii) persistent livedo reticularis with elevation of acute phase reactants, iii) ischemic or hemorrhagic strokes with systemic inflammation. Direct sequencing of CECR1 gene (exons 1-9) was performed with Sanger analysis.
Highlights
causative of an inflammatory condition characterized by polyarteritis nodosa
the clinical manifestations of the disease are heterogeneous with a wide range of severity
manifestations were included in the study
Summary
Mutations of CECR1 have been recently reported as causative of an inflammatory condition characterized by polyarteritis nodosa, cerebral stroke and immunodeficiency; the clinical manifestations of the disease are heterogeneous with a wide range of severity
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