Literature DB >> 14277836

HEREDITARY ANGIONEUROTIC EDEMA: TWO GENETIC VARIANTS.

F S ROSEN, J PENSKY, V DONALDSON, P CHARACHE.   

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.

Entities:  

Keywords:  ALPHA GLOBULIN; ANGIONEUROTIC EDEMA; BLOOD; COMPLEMENT; ENZYME INHIBITORS; ESTERASES; GEL DIFFUSION TESTS; GENETICS, HUMAN; IMMUNOELECTROPHORESIS

Mesh：

Substances：

Year:  1965        PMID： 14277836     DOI： 10.1126/science.148.3672.957

Source DB:  PubMed          Journal:  Science        ISSN： 0036-8075            Impact factor:   47.728


  74 in total

Review 1.  Complement deficiency.

Authors:  K M O'Neil
Journal:  Clin Rev Allergy Immunol       Date:  2000-10       Impact factor: 8.667

2.  Proteinase inhibitors in rheumatoid arthritis.

Authors:  D Brackertz; J Hagmann; F Kueppers
Journal:  Ann Rheum Dis       Date:  1975-06       Impact factor: 19.103

3.  Hereditary and acquired angioedema: problems and progress: proceedings of the third C1 esterase inhibitor deficiency workshop and beyond.

Authors:  Angelo Agostoni; Emel Aygören-Pürsün; Karen E Binkley; Alvaro Blanch; Konrad Bork; Laurence Bouillet; Christoph Bucher; Anthony J Castaldo; Marco Cicardi; Alvin E Davis; Caterina De Carolis; Christian Drouet; Christiane Duponchel; Henriette Farkas; Kálmán Fáy; Béla Fekete; Bettina Fischer; Luigi Fontana; George Füst; Roberto Giacomelli; Albrecht Gröner; C Erik Hack; George Harmat; John Jakenfelds; Mathias Juers; Lajos Kalmár; Pál N Kaposi; István Karádi; Arianna Kitzinger; Tímea Kollár; Wolfhart Kreuz; Peter Lakatos; Hilary J Longhurst; Margarita Lopez-Trascasa; Inmaculada Martinez-Saguer; Nicole Monnier; István Nagy; Eva Németh; Erik Waage Nielsen; Jan H Nuijens; Caroline O'grady; Emanuela Pappalardo; Vincenzo Penna; Carlo Perricone; Roberto Perricone; Ursula Rauch; Olga Roche; Eva Rusicke; Peter J Späth; George Szendei; Edit Takács; Attila Tordai; Lennart Truedsson; Lilian Varga; Beáta Visy; Kayla Williams; Andrea Zanichelli; Lorenza Zingale
Journal:  J Allergy Clin Immunol       Date:  2004-09       Impact factor: 10.793

4.  Dominant-negative SERPING1 variants cause intracellular retention of C1 inhibitor in hereditary angioedema.

Authors:  Didde Haslund; Laura Barrett Ryø; Sara Seidelin Majidi; Iben Rose; Kristian Alsbjerg Skipper; Tue Fryland; Anja Bille Bohn; Claus Koch; Martin K Thomsen; Yaseelan Palarasah; Thomas J Corydon; Anette Bygum; Lene N Nejsum; Jacob Giehm Mikkelsen
Journal:  J Clin Invest       Date:  2018-12-10       Impact factor: 14.808

5.  Hereditary angioedema presenting with recurrent ascites.

Authors:  Rada Jesic; Djordje Culafic; Branka Bonaci-Nikolic
Journal:  Dig Dis Sci       Date:  2005-01       Impact factor: 3.199

Review 6.  New therapeutics in C1INH deficiency: a review of recent studies and advances.

Authors:  Neil Parikh; Marc A Riedl
Journal:  Curr Allergy Asthma Rep       Date:  2011-08       Impact factor: 4.806

7.  Exhaustive mutation scanning by fluorescence-assisted mismatch analysis discloses new genotype-phenotype correlations in angiodema.

Authors:  E Verpy; M Biasotto; M Brai; G Misiano; T Meo; M Tosi
Journal:  Am J Hum Genet       Date:  1996-08       Impact factor: 11.025

Review 8.  Pharmacological Management of Hereditary Angioedema with C1-Inhibitor Deficiency in Pediatric Patients.

Authors:  Henriette Farkas
Journal:  Paediatr Drugs       Date:  2018-04       Impact factor: 3.022

9.  C1 inactivator inhibition by plasmin.

Authors:  P C Harpel
Journal:  J Clin Invest       Date:  1970-03       Impact factor: 14.808

10.  Response of variant hereditary angioedema phenotypes to danazol therapy. Genetic implications.

Authors:  J E Gadek; S W Hosea; J A Gelfand; M M Frank
Journal:  J Clin Invest       Date:  1979-07       Impact factor: 14.808
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