Abstract C1 inhibitor (C1Inh) deficiency is responsible for hereditary angioedema (C1‐INH‐
HAE) and caused by variants of the SERPING1/C1INH/C1NH gene. C1Inh is the major …

Contemporary genetic research has provided evidences that angioedema represents a
diverse family of disorders related to kinin metabolism, with a much greater genetic …

Background Hereditary angioedema (HAE) is a rare genetic disease usually caused by
mutation in the C1 inhibitor or the coagulation Factor XII gene. However, in a series of …

The evolution in the knowledge of rare genetic diseases such as hereditary angioedema
(HAE) has increased at a parallel pace with the development of new molecular tools. The …

Since first being documented in ancient times, the relation of inflammation with injury and
disease has evolved in complexity and causality. Early observations supported a cause …

A biomarker is a defined characteristic measured as an indicator of normal, biologic,
pathogenic processes, or biological responses to an exposure or intervention. Diagnostic …

Many current and potential drug targets are membrane-bound or secreted proteins that are
expressed and transported via the Sec61 secretory pathway. They are targeted to translocon …

Background Hereditary angioedema (HAE) comprises HAE with C1‐inhibitor deficiency (C1‐
INH‐HAE) and HAE with normal C1‐INH activity (nl‐C1‐INH‐HAE), due to mutations in …

Allergic disease is among the most common pathologies worldwide and its prevalence has
constantly increased up to the present days, even if according to the most recent data it …

Excessive BK (bradykinin) stimulation is responsible for the exaggerated permeabilization of
the endothelium in angioedema. However, the molecular mechanisms underlying these …