Mutations disrupting the function or production of C1 inhibitor cause the disease hereditary angioneurotic edema. Patient mutations identified an imperfect inverted repeat sequence that was postulated to play a mechanistic role in the mutations. To test this hypothesis, the inverted repeat was cloned into the chloramphenicol acetyltransferase gene in pBR325 and its mutation rate was studied in ...

Self-administration of therapy can help hereditary angioedema (HAE) patients regain control of their disease or reduce its impact and improve the quality of their lives. However, data from a self-administration survey, and subsequent discussion at an international HAE expert meeting, identified several barriers to self-administration therapy. These barriers include difficulty in administration ...

Background Hereditary Angioedema (HAE) is an autosomal dominant disorder resulting from a deficiency of C1 esterase inhibitor (C1-INH). It is a rare disease with clinical manifestations debilitating and potentially fatal. The aim of this study was to report the clinical and laboratory characteristics and treatment of patients with Hereditary Angioedema with C1-INH deficit Outpatient Immunology ...

Hereditary angioedema (HAE) is a rare inherited chronic disease characterisedby unpredictable recurrent attacks of cutaneous and submucosal swelling potentially involving airways, frequently upper ones,and compromising patient's life. This impliesa serious health problem with significant burden reduced life quality(1). presentsa great clinical variability different endotypes,hampering diagnosis...

Background Hereditary angioedema (HAE) types I and II (due to quantitative and qualitative C1-INH deficiency, respectively) is a rare autosomal dominant condition in which more than 300 different mutations in the entire C1-INH gene (SERPING1) have been described. The objective of this study is to identify and characterize the mutation in the SERPING1 gene in a family of HAE outpatients from the...

BackgroundAngioedema (AE) is a clinical syndrome marked by localized swelling of the subcutaneous layer skin or submucosal respiratory gastrointestinal tracts. While AE commonly mediated histamine (allergic AE), some types result from excessive bradykinin activity, including hereditary (HAE), acquired AE, and angiotensin-converting enzyme inhibitor–induced AE. These are less common but importan...

A 22 year old woman with systemic lupus erythematosus affecting the central nervous system had acquired C1 inhibitor deficiency. She was admitted for treatment of psychotic behaviour, but showed no signs of angioedema. The serum complement profile of the patient showed normal C3 concentration and a depletion of C4, C2, C1 inhibitor, and C1q. Her parents had normal complement profiles. An extrem...

In septic shock, hypotension, disseminated intravascular coagulation, and neutrophil activation are related to the activation of the blood coagulation contact system. This study evaluates in dogs the effect of the C1-esterase inhibitor (C1-INH), a main inhibitor of the blood coagulation contact system, on the cardiovascular and respiratory dysfunction associated with endotoxic shock. Two groups...