Hereditary angioedema with normal C1 inhibitor gene in a family with affected women and men is associated with the p.Thr328Lys mutation in the F12 gene

被引：60

作者：

Martin, Ludovic ^{[1
]}

Raison-Peyron, Nadia

Noethen, Mcirkus M.

Cichon, Sven

Drouet, Christian

机构：

[1] Orleans Hosp, Dept Dermatol, Orleans, France

[2] French Reference Ctr Angioedema, Grenoble, France

[3] Univ Montpellier, Dept Dermatol, F-34059 Montpellier, France

[4] Univ Bonn, Dept Genom Life, D-5300 Bonn, Germany

[5] Univ Bonn, Brain Ctr, D-5300 Bonn, Germany

[6] Univ Bonn, Inst Human Genet, D-5300 Bonn, Germany

[7] Univ Grenoble 1, CNRS, UMR 5525, Grenoble, France

来源：

JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY | 2007年 / 120卷 / 04期

关键词：

D O I：

10.1016/j.jaci.2007.07.002

中图分类号：

R392 [医学免疫学];

学科分类号：

100102 [免疫学];

摘要：

引用

页码：975 / 977

页数：3

共 11 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]

Binkley KE, 2000, J ALLERGY CLIN IMMUN, V106, P546

[3]

Hereditary angio-oedema with normal C1 inhibitor in a family with affected women and men [J].

Bork, K ;

Gül, D ;

Dewald, G .

BRITISH JOURNAL OF DERMATOLOGY, 2006, 154 (03) :542-545

[4]

Hereditary angioedema with normal C1-inhibitor activity in women [J].

Bork, K ;

Barnstedt, SE ;

Koch, P ;

Traupe, H .

LANCET, 2000, 356 (9225) :213-217

[5]

Idiopathic nonhistaminergic angioedema [J].

Cicardi, M ;

Bergamaschini, L ;

Zingale, LC ;

Gioffré, D ;

Agostoni, A .

AMERICAN JOURNAL OF MEDICINE, 1999, 106 (06) :650-654

[6]

CICARDI M, 2004, J ALLERGY CLIN IMMUN, V114, pS55

[7]

Increased activity of coagulation factor XII (Hageman factor) causes hereditary angioedema type III [J].

Cichon, Sven ;

Martin, Ludovic ;

Hennies, Hans Christian ;

Mueller, Felicitas ;

Van Driessche, Karen ;

Karpushova, Anna ;

Stevens, Wim ;

Colombo, Roberto ;

Renne, Thomas ;

Drouet, Christian ;

Bork, Konrad ;

Noethen, Markus M. .

AMERICAN JOURNAL OF HUMAN GENETICS, 2006, 79 (06) :1098-1104

[8]

DROUET C, 2004, J ALLERGY CLIN IMMUN, V114, pS65

[9]

FARSETTI A, 1995, ENDOCRINOLOGY, V136, P5076, DOI 10.1210/en.136.11.5076

[10]

New-variant hereditary angioedema in three brothers with normal C1 esterase inhibitor level and function [J].

Gupta, S ;

Yu, F ;

Klaustermeyer, WB .

ALLERGY, 2004, 59 (05) :557-558

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