HEREDITARY ANGIONEUROTIC EDEMA: TWO GENETIC VARIANTS
- PMID: 14277836
- DOI: 10.1126/science.148.3672.957
HEREDITARY ANGIONEUROTIC EDEMA: TWO GENETIC VARIANTS
Abstract
Serums of patients with hereditary angioneurotic edema lack inhibitory activity against the esterase derived from the first component of complement. In one group of patients this lack appears to result from failure to synthesize the esterase inhibitor of the first component of complement, whereas in another group of patients an abnormal, nonfunctional protein is synthesized.
Similar articles
-
ACTION OF COMPLEMENT IN HEREDITARY ANGIONEUROTIC EDEMA: THE ROLE OF C'1-ESTERASE.J Clin Invest. 1964 Nov;43(11):2204-13. doi: 10.1172/JCI105094. J Clin Invest. 1964. PMID: 14223932 Free PMC article. No abstract available.
-
DETECTION OF HEREDITARY ANGIONEUROTIC EDEMA BY DEMONSTRATION OF A REDUCTION IN THE SECOND COMPONENT OF HUMAN COMPLEMENT.N Engl J Med. 1965 Apr 1;272:649-56. doi: 10.1056/NEJM196504012721301. N Engl J Med. 1965. PMID: 14257837 No abstract available.
-
Studies on purified C'1 esterase and hereditary angioneurotic oedema sera by combined electrophoresis and immune haemolysis.Acta Pathol Microbiol Scand. 1965;65(3):413-20. doi: 10.1111/apm.1965.65.3.413. Acta Pathol Microbiol Scand. 1965. PMID: 4160934 No abstract available.
-
Management of hereditary angioedema in pediatric patients.Pediatrics. 2007 Sep;120(3):e713-22. doi: 10.1542/peds.2006-3303. Epub 2007 Aug 27. Pediatrics. 2007. PMID: 17724112 Review.
-
[Hereditary angioneurotic edema in gynecology-obstetrics. Management].J Gynecol Obstet Biol Reprod (Paris). 1996;25(6):559-67. J Gynecol Obstet Biol Reprod (Paris). 1996. PMID: 8964952 Review. French.
Cited by
-
Presence of C1-inhibitor polymers in a subset of patients suffering from hereditary angioedema.PLoS One. 2014 Nov 4;9(11):e112051. doi: 10.1371/journal.pone.0112051. eCollection 2014. PLoS One. 2014. PMID: 25369003 Free PMC article.
-
A nationwide survey of hereditary angioedema due to C1 inhibitor deficiency in Italy.Orphanet J Rare Dis. 2015 Feb 6;10:11. doi: 10.1186/s13023-015-0233-x. Orphanet J Rare Dis. 2015. PMID: 25758562 Free PMC article.
-
Brazilian guidelines for the diagnosis and treatment of hereditary angioedema.Clinics (Sao Paulo). 2011;66(9):1627-36. doi: 10.1590/s1807-59322011000900021. Clinics (Sao Paulo). 2011. PMID: 22179171 Free PMC article. Review.
-
Hereditary angioedema caused by c1-esterase inhibitor deficiency: a literature-based analysis and clinical commentary on prophylaxis treatment strategies.World Allergy Organ J. 2011 Feb;4(2 Suppl):S9-S21. doi: 10.1097/WOX.0b013e31821359a2. World Allergy Organ J. 2011. PMID: 23283143 Free PMC article.
-
Studies on human thyroxine-binding globulin (TBG). I. Purification of TBG and immunologic studies on the relationship between TBG from normal persons and those with TBG "deficiency".J Clin Invest. 1969 Mar;48(3):508-15. doi: 10.1172/JCI106008. J Clin Invest. 1969. PMID: 4975158 Free PMC article.
MeSH terms
Substances
LinkOut - more resources
Full Text Sources
Other Literature Sources