Definition
C1 inhibitor (C1-INH) is a serine protease inhibitor intimately involved in the regulation of the complement cascade and the contact system. Heterozygous deficiency of C1-INH is the most common cause of hereditary angioedema.
The Deficiency of C1 Inhibitor
C1-INH was first identified in the late 1950s as the serum inhibitor of C1 esterase (Levy and Lepow 1959). Today we know that it inhibits other serine proteases in various enzymatic systems. When the levels of C1-INH fall below 50% of normal, the contact system is exposed to inappropriate activation with local release of bradykinin, increase of endothelial permeability, fluid extravasation, and edema formation (Fig. 1). The most common cause of C1-INH deficiency are mutations in its coding gene SERPING1. An acquired deficiency of C1-INH, with identical clinical features, has also been described (Caccia et al. 2014). Genetic deficiency of C1-INH with angioedema symptoms (C1-INH-HAE) has a prevalence around 1:50,000...
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Cicardi, M., Zanichelli, A., Suffritti, C., Wu, M., Caccia, S. (2016). Hereditary Deficiency of C1 Inhibitor and Angioedema. In: MacKay, I., Rose, N. (eds) Encyclopedia of Medical Immunology. Springer, New York, NY. https://doi.org/10.1007/978-1-4614-9209-2_4-1
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DOI: https://doi.org/10.1007/978-1-4614-9209-2_4-1
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