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Bowen, B., Hawk, J.J., Sibunka, S., Hovick, S. and Weiler, J.M. (2001) A review of the reported defects in the human C1 esterase inhibitor gene producing hereditary angioedema including four new mutations. Clinical Immunology, 98, 157-163. doi:10.1006/clim.2000.4947

has been cited by the following article:

• 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: