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Kalmar, L., Hegedus, T., Farkas, H., Nagy, M. and Tordai, A. (2005) HAEdb: A novel interactive, locus-specific mutation database for the C1 inhibitor gene. Human Mutation, 25, 1-5. doi:10.1002/humu.20112

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• TITLE: A C1-inhibitor rare mutation: Early diagnosis of hereditary angioedema in a paediatric patient

  AUTHORS: Maria Cristina Maggio, Piero Sammarco, Carmelo Fabiano, Giovanni Corsello

  KEYWORDS: Hereditary Angioedema; C1-Inhibitor Deficiency

  JOURNAL NAME: Open Journal of Pediatrics, Vol.3 No.1, March 21, 2013

  ABSTRACT: Hereditary angioedema secondary to C1-inhibitor deficiency is a rare autosomal dominant disorder characterized by a deficiency of C1 esterase inhibitor.An eight-year-old girl showed periorbital painless swelling, diagnosed as ethmoiditis. A craniofacial scan did not evidence a paranasal sinus involvement, C1INH levels were undetectable, with low C4 levels: 7.6 mg/dl and C1INH: