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| Content Provider | World Health Organization (WHO)-Global Index Medicus |
|---|---|
| Author | Walford, Hannah H. Zuraw, Bruce L. |
| Description | Author Affiliation: Walford HH ( Department of Medicine, University of California-San Diego, La Jolla, California.); Zuraw BL ( Department of Medicine, University of California-San Diego, La Jolla, California) |
| Abstract | OBJECTIVE: To provide an update on the molecular mechanisms of hereditary angioedema (HAE). DATA SOURCES: MEDLINE and PubMed databases were searched to identify pertinent articles using the following key terms: hereditary angioedema, angioedema, C1 inhibitor, bradykinin, contact system, factor XII, mechanism, pathophysiology, severity, permeability, and estrogen. STUDY SELECTIONS: Articles were selected based on their relevance to the subject matter. RESULTS: Although the biochemical basis of 'classic' HAE is known to result from C1 esterase inhibitor (C1INH) deficiency, a new form, HAE with normal C1INH, has been identified. HAE types I and II are caused by mutations in the SERPING1 gene that result in decreased plasma levels of functional C1INH. In HAE with normal C1INH, mutations in the F12 gene have been identified in a subset of individuals, but the genetic defect remains unknown in most patients. The primary mediator of swelling in HAE is bradykinin, a product of the plasma contact system that increases vascular permeability. HAE disease severity is highly variable and may be influenced by polymorphisms in other genes and other factors, such as hormones, trauma, stress, and infection. CONCLUSION: Hereditary angioedema is a heterogeneous disorder with a complex pathophysiology. Implicated genes include SERPING1 and FXII in patients with HAE from C1INH deficiency and HAE with normal C1INH levels, respectively. Disease severity is highly variable. |
| File Format | HTM / HTML |
| ISSN | 10811206 |
| Issue Number | 5 |
| Volume Number | 112 |
| e-ISSN | 15344436 |
| Journal | Annals of Allergy, Asthma & Immunology |
| Language | English |
| Publisher | Elsevier (on behalf of the American College of Allergy, Asthma and Immunology) |
| Publisher Date | 2014-05-01 |
| Publisher Place | United States |
| Access Restriction | One Nation One Subscription (ONOS) |
| Subject Keyword | Discipline Immunology Angioedemas, Hereditary Genetics Metabolism Pathology Bradykinin Immunology Child Complement C1 Inactivator Proteins Estrogens Factor Xii Factor Xii Deficiency Female Genetic Predisposition To Disease Humans Male Journal Article Research Support, N.i.h., Extramural Review |
| Content Type | Text |
| Resource Type | Article |
| Subject | Pulmonary and Respiratory Medicine Immunology and Allergy Immunology |
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