Hereditary angioedema with F12 mutation: Factors modifying the clinical phenotype

Allergy: European Journal of Allergy and Clinical Immunology

Volumn 69, Issue 12, 2014, Pages 1659-1665

  Charignon, D ^a,b   Ghannam, A ^a,b   Defendi, F ^a,b   Ponard, D ^a   Monnier, N ^a   Lopez Trascasa M ^c,d   Launay, D ^a,e   Caballero, T ^c,d   Djenouhat, K ^f   Fain, O ^a,g   Cichon, S ^h,i   Martin, L ^a,j   Drouet, Christian ^a,b  

^a French Reference Centre of Kinin Mediated Angio Oedemas   (France)

^b UNIV GRENOBLE ALPES   (France)

^c HOSPITAL UNIVERSITARIO LA PAZ   (Spain)

^d CENTRO DE INVESTIGACIÓN BIOMÉDICA EN RED DE ENFERMEDADES RARAS CIBERER   (Spain)

^e UNIV LILLE   (France)

^f Institut Pasteur d'Algerie   (Algeria)

^g UNIVERSITÉ PARIS 13   (France)

^h UNIVERSITY OF BONN   (Germany)

ⁱ UNIVERSITY OF BASEL   (Switzerland)

^j ANGERS UNIVERSITY HOSPITAL   (France)

more..

Author keywords

Angiotensin I converting enzyme; Bradykinin; Carboxypeptidase N M; Factor XII mutation; Hereditary angioedema with normal C1 inhibitor

Indexed keywords

AMIDASE; AMINOPEPTIDASE P; ARGININE CARBOXYPEPTIDASE; BLOOD CLOTTING FACTOR 12; COMPLEMENT COMPONENT C1S INHIBITOR; DIPEPTIDYL CARBOXYPEPTIDASE; KININ; SERPING1 PROTEIN, HUMAN;

ANGIONEUROTIC EDEMA; ARTICLE; BLOOD DONOR; CATABOLISM; CLINICAL STUDY; CONTROLLED STUDY; DISEASE SEVERITY; EDEMA; ENZYME ACTIVITY; FEMALE; GENE MUTATION; HETEROZYGOTE; HUMAN; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; ONSET AGE; PHENOTYPE; RISK FACTOR; ALLELE; ANGIOEDEMAS, HEREDITARY; CASE CONTROL STUDY; EXON; GENETICS; METABOLISM; MUTATION; RISK; SEVERITY OF ILLNESS INDEX;

ALLELES; ANGIOEDEMAS, HEREDITARY; CASE-CONTROL STUDIES; COMPLEMENT C1 INACTIVATOR PROTEINS; EXONS; FACTOR XII; FEMALE; HETEROZYGOTE; HUMANS; MALE; MUTATION; ODDS RATIO; PHENOTYPE; RISK FACTORS; SEVERITY OF ILLNESS INDEX;

EID: 84909608085     PISSN: 01054538     EISSN: 13989995     Source Type: Journal    
DOI: 10.1111/all.12515     Document Type: Article

References (34)

1. Zuraw BL, Bork K, Binkley KE, Banerji A, Christiansen SC, Castaldo A et al. Hereditary angioedema with normal C1 inhibitor function: consensus of an international expert panel. Allergy Asthma Proc 2012;33(Suppl 1):S145-S156.
2. Bork K, Staubach P, Eckardt AJ, Hardt J. Symptoms, course, and complications of abdominal attacks in hereditary angioedema due to C1 inhibitor deficiency. Am J Gastroenterol 2006;101:619-627.
3. Cugno M, Zanichelli A, Foieni F, Caccia S, Cicardi M. C1-inhibitor deficiency and angioedema: molecular mechanisms and clinical progress. Trends Mol Med 2009;15:69-78.
4. Warin RP, Cunliffe WJ, Greaves MW, Wallington TB. Recurrent angioedema: familial and oestrogen-induced. Br J Dermatol 1986;115:731-734.
5. Bork K, Barnstedt SE, Koch P, Traupe H. Hereditary angioedema with normal C1-inhibitor activity in women. Lancet 2000;356:213-217.
6. Binkley KE, Davis A III. Clinical, biochemical, and genetic characterization of a novel estrogen-dependent inherited form of angioedema. J Allergy Clin Immunol 2000;106:546-550.
7. Martin L, Degenne D, Toutain A, Ponard D, Watier H. Hereditary angioedema type III: an additional French pedigree with autosomal dominant transmission. J Allergy Clin Immunol 2001;107:747-748.
8. Cichon S, Martin L, Hennies HC, Müller F, Van Driessche K, Karpushova A et al. Increased activity of coagulation factor XII (Hageman factor) causes hereditary angioedema type III. Am J Hum Genet 2006;79:1098-1104.
9. Dewald G, Bork K. Missense mutations in the coagulation factor XII (Hageman factor) gene in hereditary angioedema with normal C1 inhibitor. Biochem Biophys Res Commun 2006;343:1286-1289.
10. Bork K, Wulff K, Meinke P, Wagner N, Hardt J, Witzke G. A novel mutation in the coagulation factor 12 gene in subjects with hereditary angioedema and normal C1-inhibitor. Clin Immunol 2011;141:31-35.
11. Kiss N, Barabás E, Várnai K, Halász A, Varga LÁ, Prohászka Z et al. Novel duplication in the F12 gene in a patient with recurrent angioedema. Clin Immunol 2013;149:142-145.
12. Bork K, Gül D, Hardt J, Dewald G. Hereditary angioedema with normal C1 inhibitor: clinical symptoms and course. Am J Med 2007;120:987-992.
13. Ghannam A, Defendi F, Charignon D, Csopaki F, Favier B, Habib M et al. Contact system activation in patients with HAE and normal C1 Inhibitor function. Immunol Allergy Clin North Am 2013;33:513-533.
14. Kaplan AP, Joseph K. The bradykinin-forming cascade and its role in hereditary angioedema. Ann Allergy Asthma Immunol 2010;104:193-204.
15. Seip KF, Bjerknes KC, Johansen HT, Nielsen EW, Landrø L, Reubsaet L. Bradykinin analysis revived - a validated method for determination of its stable metabolite in whole blood by LC-MS/MS. J Chromatogr B Analyt Technol Biomed Life Sci 2014;947-948:139-144.
16. Davis AE III. The pathophysiology of hereditary angioedema. Clin Immunol 2005;114:3-9.
17. Cyr M, Lepage Y, Blais C, Gervais N, Cugno M, Rouleau JL et al. Bradykinin and des-Arg(9)-bradykinin metabolic pathways and kinetics of activation of human plasma. Am J Physiol Heart Circ Physiol 2001;281:H275-H283.
18. Matthews KW, Mueller-Ortiz SL, Wetsel RA. Carboxypeptidase N: a pleiotropic regulator of inflammation. Mol Immunol 2004;40:785-793.
19. Molinaro G, Cugno M, Perez M, Lepage Y, Gervais N, Agostoni A et al. Angiotensin-converting enzyme inhibitor-associated angioedema is characterized by a slower degradation of des-arginine9-bradykinin. J Pharmacol Exp Ther 2002;303:232-237.
20. Drouet C, Désormeaux A, Robillard J, Ponard D, Bouillet L, Martin L et al. Metallopeptidase activities in hereditary angioedema: effect of androgen prophylaxis on plasma aminopeptidase P. J Allergy Clin Immunol 2008;121:429-433.
21. Cilia La Corte AL, Carter AM, Rice GI, Duan QL, Rouleau GA, Adam A et al. A functional XPNPEP2 promoter haplotype leads to reduced plasma aminopeptidase P and increased risk of ACE inhibitor-induced angioedema. Hum Mutat 2011;32:1326-1331.
22. Marcos C, López Lera A, Varela S, Liñares T, Alvarez-Eire MG, López-Trascasa M. Clinical, biochemical, and genetic characterization of type III hereditary angioedema in 13 Northwest Spanish families. Ann Allergy Asthma Immunol 2012;109:195-200.
23. Gómez-Traseira C, López-Lera A, DrouetC, López-Trascasa M, Pérez-Fernández E, Favier B et al. Hereditary angioedema caused by the p.Thr309Lys mutation in the F12 gene: a multifactorial disease. J Allergy Clin Immunol 2013;132:986-989.
24. Defendi F, Charignon D, Ghannam A, Baroso R, Csopaki F, Allegret-Cadet M et al. Enzymatic assays for the diagnosis of bradykinin-dependent angioedema. PLoS ONE 2013;8:e70140.
25. Molinaro G, Carmona AK, Juliano MA, Juliano L, Malitskaya E, Yessine M-A et al. Human recombinant membrane-bound aminopeptidase P: production of a soluble form and characterization using novel, internally quenched fluorescent substrates. Biochem J 2005;385:389-397.
26. Drouet C, Alibeu C, Ponard D, Arlaud GJ, Colomb MG. A sensitive method to assay blood complement C1- inhibitor activity. Clin Chim Acta 1988;174:121-130.
27. Cumming S, Halsall D, Ewan P, Lomas D. The effect of sequence variations within the coding region of the C1 inhibitor gene on disease expression and protein function in families with hereditary angioedema. J Med Genet 2003;40:e114.
28. Freiberger T, Grombiříková H, RavčukováB, Jarkovský J, Kuklínek P, Kryštu˚fková O et al. No evidence for linkage between the hereditary angioedema clinical phenotype and the BDKR1, BDKR2, ACE or MBL2 gene. Scand J Immunol 2011;74:100-106.
29. Akaike H. A new look at the statistical model identification. IEEE Trans Autom Control 1974;19:716-723.
30. Schwarz G. Estimating the dimension of a model. Ann Stat 1978;6:461-464.
31. Bork K. Hereditary angioedema with normal C1 inhibitor. Immunol Allergy Clin North Am 2013;33:457-470.
32. Bouillet L, Ponard D, Rousset H, Cichon S, Drouet C. A case of hereditary angiooedema type III presenting with C1-inhibitor cleavage and a missense mutation in the F12 gene. Br J Dermatol 2007;156:1063-1065.
33. Martin L, Raison-Peyron N, Nöthen MM, Cichon S, Drouet C. 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. J Allergy Clin Immunol 2007;120:975-977.
34. Charignon D, Späth P, Martin L, Drouet C. Icatibant, the bradykinin B2 receptor antagonist with target to the interconnected kinin systems. Expert Opin Pharmacother 2012;13:2233-2247.