A. Agostoni, E. Aygo¨renaygo¨ren-pu¨rsu¨npu¨rsu¨pu¨rsu¨n, K. Binkley, A. Blanch, K. Bork et al., Hereditary and acquired angioedema: Problems and progress: Proceedings of the third C1 esterase inhibitor deficiency workshop and beyond, Journal of Allergy and Clinical Immunology, vol.114, issue.3, pp.51-131, 2004.
DOI : 10.1016/j.jaci.2004.06.047

V. Donaldson and R. Evans, A biochemical abnormality in hereditary angioneurotic edema, The American Journal of Medicine, vol.35, issue.1, pp.37-44, 1963.
DOI : 10.1016/0002-9343(63)90162-1

G. Silverman, P. Bird, R. Carrell, F. Church, P. Coughlin et al., The Serpins Are an Expanding Superfamily of Structurally Similar but Functionally Diverse Proteins: EVOLUTION, MECHANISM OF INHIBITION, NOVEL FUNCTIONS, AND A REVISED NOMENCLATURE, Journal of Biological Chemistry, vol.276, issue.36, pp.33293-33296, 2001.
DOI : 10.1074/jbc.R100016200

A. Kaplan, K. Joseph, and M. Silverberg, Pathways for bradykinin formation and inflammatory disease, Journal of Allergy and Clinical Immunology, vol.109, issue.2, pp.195-209, 2002.
DOI : 10.1067/mai.2002.121316

A. Bygum, Hereditary angio-oedema in Denmark: a nationwide survey, British Journal of Dermatology, vol.148, issue.5, pp.1153-1158, 2009.
DOI : 10.1111/j.1365-2133.2009.09366.x

L. Kalma´rkalma´r, T. Hegedu¨shegedu¨s, H. Farkas, M. Nagy, and A. Tordai, HAEdb: A novel interactive, locus-specific mutation database for the C1 inhibitor gene, Human Mutation, vol.25, issue.1, pp.1-5, 2005.
DOI : 10.1002/humu.20112

M. Cicardi, L. Bergamaschini, M. Cugno, A. Beretta, L. Zingale et al., Pathogenetic and Clinical Aspects of C1 Inhibitor Deficiency, Immunobiology, vol.199, issue.2, pp.366-376, 1998.
DOI : 10.1016/S0171-2985(98)80041-7

M. Cugno, A. Zanichelli, F. Foieni, S. Caccia, and M. Cicardi, C1-inhibitor deficiency and angioedema: molecular mechanisms and clinical progress, Trends in Molecular Medicine, vol.15, issue.2, pp.69-78, 2009.
DOI : 10.1016/j.molmed.2008.12.001

C. Drouet, A. De´sormeauxde´sormeaux, J. Robillard, D. Ponard, L. Bouillet et al., Metallopeptidase activities in hereditary angioedema: Effect of androgen prophylaxis on plasma aminopeptidase P, Journal of Allergy and Clinical Immunology, vol.121, issue.2, pp.429-433, 2008.
DOI : 10.1016/j.jaci.2007.10.048

URL : https://hal.archives-ouvertes.fr/hal-00281331

S. Cumming, D. Halsall, P. Ewan, and D. Lomas, The effect of sequence variations within the coding region of the C1 inhibitor gene on disease expression and protein function in families with hereditary angio-oedema, Journal of Medical Genetics, vol.40, issue.10, p.114, 2003.
DOI : 10.1136/jmg.40.10.e114

C. Duponchel, K. Djenouhat, V. Fre´meauxfre´meaux-bacchi, N. Monnier, C. Drouet et al., Functional analysis of splicing mutations and of an exon 2 polymorphic variant ofSERPING1/C1NH, Human Mutation, vol.27, issue.3, pp.295-296, 2006.
DOI : 10.1002/humu.9414

Z. Kelemen, D. Moldovan, E. Mihaíy, B. Visy, G. Sze´plakisze´plaki et al., Baseline level of functional C1-inhibitor correlates with disease severity scores in hereditary angioedema, Clinical Immunology, vol.134, issue.3, pp.354-358, 2010.
DOI : 10.1016/j.clim.2009.11.002

M. Cicardi and L. Zingale, Clinical manifestations of hereditary angioedema, J Allergy Clin Immunol, vol.114, pp.55-59, 2004.

C. Drouet, C. Alibeu, D. Ponard, G. Arlaud, and M. Colomb, A sensitive method to assay blood complement C Inhibitor activity, Clinica Chimica Acta, vol.174, issue.2, pp.121-130, 1988.
DOI : 10.1016/0009-8981(88)90379-8

P. Carter, C. Duponchel, M. Tosi, and J. Fothergill, Complete nucleotide sequence of the gene for human C1 inhibitor with an unusually high density of Alu elements, European Journal of Biochemistry, vol.6, issue.2, pp.301-308, 1991.
DOI : 10.1038/303674a0

F. Desmet, D. Hamroun, M. Lalande, G. Collod-be´roudbe´roud, M. Claustres et al., Human Splicing Finder: an online bioinformatics tool to predict splicing signals, Nucleic Acids Research, vol.37, issue.9, p.67, 2009.
DOI : 10.1093/nar/gkp215

URL : https://hal.archives-ouvertes.fr/inserm-00396239

L. Beinrohr, V. Harmat, . Dobo´jdobo´j, Z. Lo¨rinczlo¨rincz, P. Gaí et al., C1 Inhibitor Serpin Domain Structure Reveals the Likely Mechanism of Heparin Potentiation and Conformational Disease, Journal of Biological Chemistry, vol.282, issue.29, pp.21100-21109, 2007.
DOI : 10.1074/jbc.M700841200

E. Verpy, M. Biasotto, M. Brai, G. Misiano, T. Meo et al., Exhaustive mutation scanning by fluorescence-assisted mismatch analysis discloses new genotype-phenotype correlations in angioedema, Am J Hum Genet, vol.59, pp.308-319, 1996.

K. Skriver, E. Radziejewska, J. Silbermann, V. Donaldson, and S. Bock, CpG mutations in the reactive site of human C1 inhibitor, J Biol Chem, vol.264, pp.3066-3071, 1989.

N. Amrani, M. Sachs, and A. Jacobsen, Early nonsense: mRNA decay solves a translational problem, Nature Reviews Molecular Cell Biology, vol.26, issue.6, pp.415-425, 2006.
DOI : 10.1038/nrm1942

D. Stoppa-lyonnet, P. Carter, T. Meo, and M. Tosi, Clusters of intragenic Alu repeats predispose the human C1 inhibitor locus to deleterious rearrangements., Proceedings of the National Academy of Sciences, vol.87, issue.4, pp.1551-1555, 1990.
DOI : 10.1073/pnas.87.4.1551

O. Roche, A. Blanch, C. Duponchel, G. Fonta´nfonta´n, M. Tosi et al., in a large Spanish cohort, Human Mutation, vol.105, issue.1 Pt 1, pp.135-144, 2005.
DOI : 10.1002/humu.20197

K. Bork, G. Meng, P. Staubach, and J. Hardt, Hereditary Angioedema: New Findings Concerning Symptoms, Affected Organs, and Course, The American Journal of Medicine, vol.119, issue.3, pp.267-274, 2006.
DOI : 10.1016/j.amjmed.2005.09.064

J. Fabiani, A. Avigliano, and J. Dupont, Hereditary angioedema. Long-term followup of 88 patients. Experience of the Argentine Allergy and Immunology Institute, Allergol Immunopathol, vol.28, pp.267-271, 2000.

A. Agostoni and M. Cicardi, Hereditary and Acquired C1-Inhibitor Deficiency, Medicine, vol.71, issue.4, pp.206-215, 1992.
DOI : 10.1097/00005792-199207000-00003

T. Go¨ssweingo¨sswein, A. Kocot, G. Emmert, W. Kreuz, I. Martinez-saguer et al., Mutational spectrum of the C1INH (SERPING1) gene in patients with hereditary angioedema, Cytogenet Genome Res, vol.121, pp.181-188, 2008.

L. Kalma´rkalma´r, A. Bors, H. Farkas, S. Vas, B. Fandl et al., Mutation screening of the C1 inhibitor gene among Hungarian patients with hereditary angioedema, Human Mutation, vol.22, issue.6, p.498, 2003.
DOI : 10.1002/humu.9202

E. Pappalardo, S. Caccia, C. Suffritti, A. Tordai, L. Zingale et al., Mutation screening of C1 inhibitor gene in 108 unrelated families with hereditary angioedema: Functional and structural correlates, Molecular Immunology, vol.45, issue.13, pp.3536-3544, 2008.
DOI : 10.1016/j.molimm.2008.05.007

P. Stein and R. Carrell, What do dysfunctional serpins tell us about molecular mobility and disease?, Nature Structural Biology, vol.87, issue.2, pp.96-113, 1995.
DOI : 10.1107/S0021889891004399

E. Pappalardo, M. Cicardi, C. Duponchel, A. Carugati, S. Choquet et al., Frequent de novo mutations and exon deletions in the C1inhibitor gene of patients with angioedema, Journal of Allergy and Clinical Immunology, vol.106, issue.6, pp.1147-1154, 2000.
DOI : 10.1067/mai.2000.110471

T. Freiberger, . Kola´rova´lkola´rova´kola´rova´l, P. Mejstr?´kmejstr?´k, . Vyskocilova´mocilova´m, P. Kuklinek et al., Five novel mutations in the C1 inhibitor gene (C1NH) leading to a premature stop codon in patients with type I hereditary angioedema, Human Mutation, vol.19, issue.4, p.461, 2002.
DOI : 10.1002/humu.9029

L. Martin, R. Peyron, N. No¨thenno¨then, M. Cichon, S. Drouet et al., 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, Journal of Allergy and Clinical Immunology, vol.120, issue.4, pp.975-977, 2007.
DOI : 10.1016/j.jaci.2007.07.002

URL : https://hal.archives-ouvertes.fr/hal-00400462

K. Bork, K. Wulff, J. Hardt, G. Witzke, and P. Staubach, Hereditary angioedema caused by missense mutations in the factor XII gene: Clinical features, trigger factors, and therapy, Journal of Allergy and Clinical Immunology, vol.124, issue.1, pp.129-134, 2009.
DOI : 10.1016/j.jaci.2009.03.038

E. Verpy, E. Couture-tosi, E. Eldering, M. Lopez-trascasa, P. Spa¨thspa¨th et al., Crucial residues in the carboxy-terminal end of C1 inhibitor revealed by pathogenic mutants impaired in secretion or function., Journal of Clinical Investigation, vol.95, issue.1
DOI : 10.1172/JCI117663