Homozygous C1 inhibitor deficiency

PubMed, the Internet portal of biomedical and life sciences literature, indexed an interesting article, entitled “First case of homozygous C1 inhibitor deficiency.” (J Allergy Clin Immunol. 2006 Dec;118(6):1330-5). Authors are Blanch A, Roche O, Urrutia I, et al., from the Unidad de Inmunologia, Hospital Universitario La Paz, Madrid, Spain. C1 Inhibitor (C1-Inh) deficiency causes angioedema and can be hereditary (HAE), caused by mutations in the C1-Inh gene (C1NH), or acquired (AAE). Patients with HAE show a complement profile different from that of patients with AAE with normal levels of C1 (C1q, C1r, and C1s). The authors sought to characterize the complement profile of a patient with HAE and a mutation in homozygosis in the C1NH gene (c.1576T>G, Ile462Ser) and study his family. This is the first report of patients homozygous for a mutation affecting the coding region of C1NH. The most common HAE treatment is attenuated androgens, which increase the C1NH gene transcription levels. Because the homozygous patients lack a wild-type allele, long-term prophylactic treatment with attenuated androgens might not be advisable. To access the full abstract of the article, click here.