Hereditary angioedema: Molecular and clinical differences among European populations

被引:60
作者
Speletas, Matthaios [1 ]
Szilagyi, Agnes [2 ]
Psarros, Fotis [3 ]
Moldovan, Dimitru [4 ]
Magerl, Markus [5 ]
Kompoti, Maria [1 ]
Gramoustianou, Evangelia [1 ]
Bors, Andras [6 ]
Mihaly, Eniko [4 ]
Tordai, Attila [6 ]
Avramouli, Antigoni [1 ]
Varga, Lilian [2 ]
Maurer, Marcus [5 ]
Farkas, Henriette [2 ]
Germenis, Anastasios E. [1 ]
机构
[1] Univ Thessaly, Sch Hlth Sci, Fac Med, Dept Immunol & Histocompatibil, Larisa, Greece
[2] Semmelweis Univ, Hungarian Angioedema Ctr, Dept Internal Med 3, H-1085 Budapest, Hungary
[3] Navy Hosp, Dept Allergol, Athens, Greece
[4] Univ Med & Pharm, Allergy & Lung Funct Off, Targu Mures, Romania
[5] Charite, Dept Dermatol & Allergy, D-13353 Berlin, Germany
[6] Hungarian Natl Blood Transfus Serv, Lab Mol Diagnost, Budapest, Hungary
关键词
MUTATIONS; GENE; DYSFUNCTION; PROTEIN;
D O I
10.1016/j.jaci.2014.08.007
中图分类号
R392 [医学免疫学];
学科分类号
100102 ;
摘要
[No abstract available]
引用
收藏
页码:570 / +
页数:14
相关论文
共 16 条
[1]   A method and server for predicting damaging missense mutations [J].
Adzhubei, Ivan A. ;
Schmidt, Steffen ;
Peshkin, Leonid ;
Ramensky, Vasily E. ;
Gerasimova, Anna ;
Bork, Peer ;
Kondrashov, Alexey S. ;
Sunyaev, Shamil R. .
NATURE METHODS, 2010, 7 (04) :248-249
[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]   Less severe clinical manifestations in patients with hereditary angioedema with missense C1INH gene mutations [J].
Bors, Andras ;
Csuka, Dorottya ;
Varga, Lilian ;
Farkas, Henriette ;
Tordai, Attila ;
Fuest, George ;
Szilagyi, Agnes .
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY, 2013, 131 (06) :1708-1711
[4]   2010 International consensus algorithm for the diagnosis, therapy and management of hereditary angioedema [J].
Tom Bowen ;
Marco Cicardi ;
Henriette Farkas ;
Konrad Bork ;
Hilary J Longhurst ;
Bruce Zuraw ;
Emel Aygoeren-Pürsün ;
Timothy Craig ;
Karen Binkley ;
Jacques Hebert ;
Bruce Ritchie ;
Laurence Bouillet ;
Stephen Betschel ;
Della Cogar ;
John Dean ;
Ramachand Devaraj ;
Azza Hamed ;
Palinder Kamra ;
Paul K Keith ;
Gina Lacuesta ;
Eric Leith ;
Harriet Lyons ;
Sean Mace ;
Barbara Mako ;
Doris Neurath ;
Man-Chiu Poon ;
Georges-Etienne Rivard ;
Robert Schellenberg ;
Dereth Rowan ;
Anne Rowe ;
Donald Stark ;
Smeeksha Sur ;
Ellie Tsai ;
Richard Warrington ;
Susan Waserman ;
Rohan Ameratunga ;
Jonathan Bernstein ;
Janne Björkander ;
Kristylea Brosz ;
John Brosz ;
Anette Bygum ;
Teresa Caballero ;
Mike Frank ;
George Fust ;
George Harmat ;
Amin Kanani ;
Wolfhart Kreuz ;
Marcel Levi ;
Henry Li ;
Inmaculada Martinez-Saguer .
Allergy, Asthma & Clinical Immunology, 6 (1)
[5]   Evidence-based recommendations for the therapeutic management of angioedema owing to hereditary C1 inhibitor deficiency: consensus report of an International Working Group [J].
Cicardi, M. ;
Bork, K. ;
Caballero, T. ;
Craig, T. ;
Li, H. H. ;
Longhurst, H. ;
Reshef, A. ;
Zuraw, B. .
ALLERGY, 2012, 67 (02) :147-157
[6]   C1 INHIBITOR HINGE REGION MUTATIONS PRODUCE DYSFUNCTION BY DIFFERENT MECHANISMS [J].
DAVIS, AE ;
AULAK, K ;
PARAD, RB ;
STECKLEIN, HP ;
ELDERING, E ;
HACK, CE ;
KRAMER, J ;
STRUNK, RC ;
BISSLER, J ;
ROSEN, FS .
NATURE GENETICS, 1992, 1 (05) :354-358
[7]   Pediatric hereditary angioedema due to C1-inhibitor deficiency [J].
Henriette Farkas .
Allergy, Asthma & Clinical Immunology, 6 (1)
[8]   HAEdb:: A novel interactive, locus-specific mutation database for the C1 inhibitor gene [J].
Kalmár, L ;
Hegedüs, T ;
Farkas, H ;
Nagy, M ;
Tordai, A .
HUMAN MUTATION, 2005, 25 (01) :1-5
[9]  
Kalmar L, 2003, HUM MUTAT, V22, P498
[10]   Predicting the effects of amino acid substitutions on protein function [J].
Ng, Pauline C. ;
Henikoff, Steven .
ANNUAL REVIEW OF GENOMICS AND HUMAN GENETICS, 2006, 7 :61-80