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Pappalardo, E., Caccia, S., Suffritti, C., Tordai, A., Zingale, L.C. and Cicardi, M. (2008) Mutation screening of C1 inhibitor gene in 108 unrelated families with hereditary angioedema: Functional and structural correlates. Molecular Immunology, 45, 3536-3544. doi:10.1016/j.molimm.2008.05.007

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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: