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

Journal of Allergy and Clinical Immunology

Volumn 131, Issue 6, 2013, Pages 1708-1711.e3

  Bors, Andras ^a   Csuka, Dorottya ^b   Varga, Lilian ^b   Farkas, Henriette ^b   Tordai, Attila ^a   Füst, George ^b   Szilagyi, Agnes ^b  

^a Hungarian National Blood Transfusion Service   (Hungary)

^b SEMMELWEIS UNIVERSITY OF MEDICINE   (Hungary)

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID SUBSTITUTION; ANGIONEUROTIC EDEMA; C1INH GENE; DISEASE COURSE; DISEASE SEVERITY; EXON; F12 GENE; GENE; GENE FREQUENCY; GENETIC POLYMORPHISM; GENETIC VARIABILITY; GENOTYPE PHENOTYPE CORRELATION; HUMAN; LETTER; MAJOR CLINICAL STUDY; MISSENSE MUTATION; ONSET AGE; PRIORITY JOURNAL; SEQUENCE ANALYSIS;

EID: 84878590077     PISSN: 00916749     EISSN: 10976825     Source Type: Journal    
DOI: 10.1016/j.jaci.2012.11.015     Document Type: Article

References (16)

1. A. Agostoni, E. Aygören-Pürsün, K.E. Binkley, A. Blanch, K. Bork, and L. Bouillet Hereditary and acquired angioedema: problems and progress: Proceedings of the third C1 esterase inhibitor deficiency workshop and beyond J Allergy Clin Immunol 114 2004 S51 S131
2. K. Bork, G. Meng, P. Staubach, and J. Hardt Hereditary angioedema: new findings concerning symptoms, affected organs, and course Am J Med 119 2006 267 274
3. M. Cicardi, and A. Zanichelli Angioedema due to C1 inhibitor deficiency in 2010 Intern Emerg Med 5 2010 481 486
4. L. Kalmar, A. Bors, H. Farkas, S. Vas, B. Fandl, and L. Varga Mutation screening of the C1 inhibitor gene among Hungarian patients with hereditary angioedema Hum Mutat 22 2003 498
5. T. Kanaji, T. Okamura, K. Osaki, M. Kuroiwa, K. Shimoda, and N. Hamasaki 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 Blood 91 1998 2010 2014
6. I. Simonovic, and P.A. Patston The native metastable fold of C1-inhibitor is stabilized by disulfide bonds Biochim Biophys Acta 1481 2000 97 102
7. E. Verpy, E. Couture-Tosi, E. Eldering, M. Lopez-Trascasa, P. Spath, and T. Meo Crucial residues in the carboxy-terminal end of C1 inhibitor revealed by pathogenic mutants impaired in secretion or function J Clin Invest 95 1995 350 359
8. R.M. de la Cruz, A. Lopez-Lera, and M. Lopez-Trascasa Analysis of SERPING1 expression on hereditary angioedema patients: quantitative analysis of full-length and exon 3 splicing variants Immunol Lett 141 2012 158 164
9. F. Calafell, L. Almasy, M. Sabater-Lleal, A. Buil, C. Mordillo, and A. Ramirez-Soriano Sequence variation and genetic evolution at the human F12 locus: mapping quantitative trait nucleotides that influence FXII plasma levels Hum Mol Genet 19 2010 517 525
10. T. Bowen, M. Cicardi, H. Farkas, K. Bork, H.J. Longhurst, and B. Zuraw 2010 International consensus algorithm for the diagnosis, therapy and management of hereditary angioedema Allergy Asthma Clin Immunol 6 2010 24
11. M. Cicardi, K. Bork, T. Caballero, T. Craig, H.H. Li, and H. Longhurst Evidence-based recommendations for the therapeutic management of angioedema owing to hereditary C1 inhibitor deficiency: consensus report of an International Working Group Allergy 67 2012 147 157
12. S.A. Miller, D.D. Dykes, and H.F. Polesky A simple salting out procedure for extracting DNA from human nucleated cells Nucleic Acids Res 16 1988 1215
13. L. Kalmar, A. Bors, H. Farkas, S. Vas, B. Fandl, and L. Varga Mutation screening of the C1 inhibitor gene among Hungarian patients with hereditary angioedema Hum Mutat 22 2003 498
14. D. Stoppa-Lyonnet, C. Duponchel, T. Meo, J. Laurent, P.E. Carter, and M. Arala-Chaves Recombinational biases in the rearranged C1-inhibitor genes of hereditary angioedema patients Am J Hum Genet 49 1991 1055 1062
15. T. Kanaji, T. Okamura, K. Osaki, M. Kuroiwa, K. Shimoda, and N. Hamasaki 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 Blood 91 1998 2010 2014
16. S.L. Zeger, and K.Y. Liang Longitudinal data analysis for discrete and continuous outcomes Biometrics 42 1986 121 130