Less severe clinical manifestations in patients with hereditary angioedema with missense C1INH gene mutations

被引:31
作者
Bors, Andras [1 ]
Csuka, Dorottya [2 ]
Varga, Lilian [2 ]
Farkas, Henriette [2 ]
Tordai, Attila [1 ]
Fuest, George [2 ]
Szilagyi, Agnes [2 ]
机构
[1] Semmelweis Univ, Hungarian Natl Blood Transfus Serv, Lab Mol Diagnost, H-1085 Budapest, Hungary
[2] Semmelweis Univ, Dept Internal Med 3, H-1085 Budapest, Hungary
关键词
INHIBITOR DEFICIENCY;
D O I
10.1016/j.jaci.2012.11.015
中图分类号
R392 [医学免疫学];
学科分类号
100108 [医学免疫学];
摘要
引用
收藏
页码:1708 / 1711
页数:6
相关论文
共 9 条
[1]
Hereditary and acquired angioedema: Problems and progress: Proceedings of the third C1 esterase inhibitor deficiency workshop and beyond [J].
Agostoni, Angelo ;
Aygoeren-Puersuen, Emel ;
Binkley, Karen E. ;
Blanch, Alvaro ;
Bork, Konrad ;
Bouillet, Laurence ;
Bucher, Christoph ;
Castaldo, Anthony J. ;
Cicardi, Marco ;
Davis, Alvin E., III ;
De Carolis, Caterina ;
Drouet, Christian ;
Duponchel, Christiane ;
Farkas, Henriette ;
Fay, Kalman ;
Fekete, Bela ;
Fischer, Bettina ;
Fontana, Luigi ;
Fuest, George ;
Giacomelli, Roberto ;
Groener, Albrecht ;
Hack, C. Erik ;
Harmat, George ;
Jakenfelds, John ;
Juers, Mathias ;
Kalmar, Lajos ;
Kaposi, Pal N. ;
Karadi, Istvan ;
Kitzinger, Arianna ;
Kollar, Timea ;
Kreuz, Wolfhart ;
Lakatos, Peter ;
Longhurst, Hilary J. ;
Lopez-Trascasa, Margarita ;
Martinez-Saguer, Inmaculada ;
Monnier, Nicole ;
Nagy, Istvan ;
Nemeth, Eva ;
Nielsen, Erik Waage ;
Nuijens, Jan H. ;
O'Grady, Caroline ;
Pappalardo, Emanuela ;
Penna, Vincenzo ;
Perricone, Carlo ;
Perricone, Roberto ;
Rauch, Ursula ;
Roche, Olga ;
Rusicke, Eva ;
Spaeth, Peter J. ;
Szendei, George .
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY, 2004, 114 (03) :S51-S131
[2]
Hereditary angioedema: New findings concerning symptoms, affected organs, and course [J].
Bork, K ;
Meng, G ;
Staubach, P ;
Hardt, J .
AMERICAN JOURNAL OF MEDICINE, 2006, 119 (03) :267-274
[3]
Sequence variation and genetic evolution at the human F12 locus: mapping quantitative trait nucleotides that influence FXII plasma levels [J].
Calafell, Francesc ;
Almasy, Laura ;
Sabater-Lleal, Maria ;
Buil, Alfonso ;
Mordillo, Carolina ;
Ramirez-Soriano, Anna ;
Sikora, Martin ;
Carlos Souto, Juan ;
Blangero, John ;
Fontcuberta, Jordi ;
Manuel Soria, Jose .
HUMAN MOLECULAR GENETICS, 2010, 19 (03) :517-525
[4]
Angioedema due to C1 inhibitor deficiency in 2010 [J].
Cicardi, Marco ;
Zanichelli, Andrea .
INTERNAL AND EMERGENCY MEDICINE, 2010, 5 (06) :481-486
[5]
Mutation Screening of the C1 Inhibitor Gene Among Hungarian Patients With Hereditary Angioedema [J].
Kalmar, Lajos ;
Bors, Andras ;
Farkas, Henriette ;
Vas, Szilvia ;
Fandl, Barbara ;
Varga, Lilian ;
Fuest, Gyoergy ;
Tordai, Attila .
HUMAN MUTATION, 2003, 22 (06)
[6]
A common genetic polymorphism (46 C to T substitution) in the 5′-untranslated region of the coagulation factor XII gene is associated with low translation efficiency and decrease in plasma factor XII level [J].
Kanaji, T ;
Okamura, T ;
Osaki, K ;
Kuroiwa, M ;
Shimoda, K ;
Hamasaki, N ;
Niho, Y .
BLOOD, 1998, 91 (06) :2010-2014
[7]
Analysis of SERPING1 expression on hereditary angioedema patients: Quantitative analysis of full-length and exon 3 splicing variants [J].
Mena de la Cruz, Rocio ;
Lopez-Lera, Alberto ;
Lopez-Trascasa, Margarita .
IMMUNOLOGY LETTERS, 2012, 141 (02) :158-164
[8]
The native metastable fold of C1-inhibitor is stabilized by disulfide bonds [J].
Simonovic, I ;
Patston, PA .
BIOCHIMICA ET BIOPHYSICA ACTA-PROTEIN STRUCTURE AND MOLECULAR ENZYMOLOGY, 2000, 1481 (01) :97-102
[9]
CRUCIAL RESIDUES IN THE CARBOXY-TERMINAL END OF C1 INHIBITOR REVEALED BY PATHOGENIC MUTANTS IMPAIRED IN SECRETION OR FUNCTION [J].
VERPY, E ;
COUTURETOSI, E ;
ELDERING, E ;
LOPEZTRASCASA, M ;
SPATH, P ;
MEO, T ;
TOSI, M .
JOURNAL OF CLINICAL INVESTIGATION, 1995, 95 (01) :350-359