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Erschienen in: Clinical Reviews in Allergy & Immunology 2/2016

26.04.2016

Genetics of Hereditary Angioedema Revisited

verfasst von: Anastasios E. Germenis, Matthaios Speletas

Erschienen in: Clinical Reviews in Allergy & Immunology | Ausgabe 2/2016

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Abstract

Contemporary genetic research has provided evidences that angioedema represents a diverse family of disorders related to kinin metabolism, with a much greater genetic complexity than was initially considered. Convincing data have also recently been published indicating that the clinical heterogeneity of hereditary angioedema due to C1 inhibitor deficiency (classified as C1-INH-HAE) could be attributed at least in part, either to the type of SERPING1 mutations or to mutations in genes encoding for enzymes involved in the metabolism and function of bradykinin. Alterations detected in at least one more gene (F12) are nowadays considered responsible for 25 % of cases of hereditary angioedema with normal C1-INH (type III hereditary angioedema (HAE), nlC1-INH-HAE). Interesting data derived from genetic approaches of non-hereditary angioedemas indicate that other immune pathways might be implicated in the pathogenesis of HAE. More than 125 years after the recognition of the hereditary nature of HAE by Osler, the heterogeneity of clinical expressions, the genetics of this disorder, and the genotype-phenotype relationships, still presents a challenge that will be discussed in this review. Large scale, in-depth genetic studies are expected not only to answer these emerging questions but also to further elucidate many of the unmet aspects of angioedema pathogenesis. Uncovering genetic biomarkers affecting the severity of the disease and/or the effectiveness of the various treatment modalities might lead to the prevention of attacks and the optimization of C1-INH-HAE management that is expected to provide a valuable benefit to the sufferers of angioedema.
Literatur
1.
Zurück zum Zitat Cicardi M, Igarashi T, Kim MS, Frangi D, Agostoni A, Davis AE 3rd (1987) Restriction fragment length polymorphism of the C1 inhibitor gene in hereditary angioneurotic edema. J Clin Invest 80:1640–1643PubMedPubMedCentralCrossRef Cicardi M, Igarashi T, Kim MS, Frangi D, Agostoni A, Davis AE 3rd (1987) Restriction fragment length polymorphism of the C1 inhibitor gene in hereditary angioneurotic edema. J Clin Invest 80:1640–1643PubMedPubMedCentralCrossRef
2.
Zurück zum Zitat Stoppa-Lyonnet D, Tosi M, Laurent J, Sobel A, Lagrue G, Meo T (1987) Altered C1 inhibitor genes in type I hereditary angioedema. N Engl J Med 317:1–6PubMedCrossRef Stoppa-Lyonnet D, Tosi M, Laurent J, Sobel A, Lagrue G, Meo T (1987) Altered C1 inhibitor genes in type I hereditary angioedema. N Engl J Med 317:1–6PubMedCrossRef
3.
Zurück zum Zitat Dewald G, Bork K (2006) Missense mutations in the coagulation factor XII (Hageman factor) gene in hereditary angioedema with normal C1 inhibitor. Biochem Biophys Res Commun 343:1286–1289PubMedCrossRef Dewald G, Bork K (2006) Missense mutations in the coagulation factor XII (Hageman factor) gene in hereditary angioedema with normal C1 inhibitor. Biochem Biophys Res Commun 343:1286–1289PubMedCrossRef
4.
Zurück zum Zitat Speletas M, Szilagyi A, Psarros F, Moldovan D, Magerl M, Kompoti M et al (2015) Hereditary angioedema: molecular and clinical differences among European populations. J Allergy Clin Immunol 135:570–573PubMedCrossRef Speletas M, Szilagyi A, Psarros F, Moldovan D, Magerl M, Kompoti M et al (2015) Hereditary angioedema: molecular and clinical differences among European populations. J Allergy Clin Immunol 135:570–573PubMedCrossRef
5.
Zurück zum Zitat Pappalardo E, Caccia S, Suffritti C, Tordai A, Zingale LC, Cicardi M (2008) Mutation screening of C1 inhibitor gene in 108 unrelated families with hereditary angioedema: functional and structural correlates. Mol Immunol 45:3536–3544PubMedCrossRef Pappalardo E, Caccia S, Suffritti C, Tordai A, Zingale LC, Cicardi M (2008) Mutation screening of C1 inhibitor gene in 108 unrelated families with hereditary angioedema: functional and structural correlates. Mol Immunol 45:3536–3544PubMedCrossRef
6.
Zurück zum Zitat Csuka D, Szilágyi Á, Farkas H (2015) Hereditary angioedema due to C1-inhibitor deficiency—from a genetic point of view. Hered Genet 4:e112 Csuka D, Szilágyi Á, Farkas H (2015) Hereditary angioedema due to C1-inhibitor deficiency—from a genetic point of view. Hered Genet 4:e112
7.
Zurück zum Zitat Zuraw BL, Bork K, Binkley KE, Banerji A, Christiansen SC, Castaldo A et al (2012) Hereditary angioedema with normal C1 inhibitor function: consensus of an international expert panel. Allergy Asthma Proc 33(Suppl 1):145–156CrossRef Zuraw BL, Bork K, Binkley KE, Banerji A, Christiansen SC, Castaldo A et al (2012) Hereditary angioedema with normal C1 inhibitor function: consensus of an international expert panel. Allergy Asthma Proc 33(Suppl 1):145–156CrossRef
8.
Zurück zum Zitat Cicardi M, Aberer W, Banerji A, Bas M, Bernstein JA, Bork K, Caballero T, HAWK Under the Patronage of EAACI et al (2014) Classification, diagnosis, and approach to treatment for angioedema: consensus report from the Hereditary Angioedema International Working Group. Allergy 69:602–616PubMedCrossRef Cicardi M, Aberer W, Banerji A, Bas M, Bernstein JA, Bork K, Caballero T, HAWK Under the Patronage of EAACI et al (2014) Classification, diagnosis, and approach to treatment for angioedema: consensus report from the Hereditary Angioedema International Working Group. Allergy 69:602–616PubMedCrossRef
9.
Zurück zum Zitat Bors A, Csuka D, Varga L, Farkas H, Tordai A, Füst G, Szilagyi A (2013) Less severe clinical manifestations in patients with hereditary angioedema with missense C1INH gene mutations. J Allergy Clin Immunol 131:1708–1711PubMedCrossRef Bors A, Csuka D, Varga L, Farkas H, Tordai A, Füst G, Szilagyi A (2013) Less severe clinical manifestations in patients with hereditary angioedema with missense C1INH gene mutations. J Allergy Clin Immunol 131:1708–1711PubMedCrossRef
10.
Zurück zum Zitat Speletas M, Szilagyi A, Csuka D, Koutsostathis N, Psarros F, Moldovan D et al (2015) F12-46C/T polymorphism as modifier of the clinical phenotype of hereditary angioedema. Allergy 70:1661–1664PubMedCrossRef Speletas M, Szilagyi A, Csuka D, Koutsostathis N, Psarros F, Moldovan D et al (2015) F12-46C/T polymorphism as modifier of the clinical phenotype of hereditary angioedema. Allergy 70:1661–1664PubMedCrossRef
11.
Zurück zum Zitat Davis AE 3rd, Whitehead AS, Harrison RA, Dauphinais A, Bruns GA, Cicardi M, Rosen FS (1986) Human inhibitor of the first component of complement, C1: characterization of cDNA clones and localization of the gene to chromosome 11. Proc Natl Acad Sci U S A 83:3161–3165PubMedPubMedCentralCrossRef Davis AE 3rd, Whitehead AS, Harrison RA, Dauphinais A, Bruns GA, Cicardi M, Rosen FS (1986) Human inhibitor of the first component of complement, C1: characterization of cDNA clones and localization of the gene to chromosome 11. Proc Natl Acad Sci U S A 83:3161–3165PubMedPubMedCentralCrossRef
12.
Zurück zum Zitat Bock SC, Skriver K, Nielsen E, Thogersen HC, Wiman B, Donaldson VH, Eddy RL, Marrinan J, Radziejewska E, Huber R et al (1986) Human C1 inhibitor: primary structure, cDNA cloning, and chromosomal localization. Biochemistry 25:4292–4301PubMedCrossRef Bock SC, Skriver K, Nielsen E, Thogersen HC, Wiman B, Donaldson VH, Eddy RL, Marrinan J, Radziejewska E, Huber R et al (1986) Human C1 inhibitor: primary structure, cDNA cloning, and chromosomal localization. Biochemistry 25:4292–4301PubMedCrossRef
13.
Zurück zum Zitat Beinrohr L, Harmat V, Dobó J, Lörincz Z, Gál P, Závodszky P (2007) C1 inhibitor serpin domain structure reveals the likely mechanism of heparin potentiation and conformational disease. J Biol Chem 282:21100–21109PubMedCrossRef Beinrohr L, Harmat V, Dobó J, Lörincz Z, Gál P, Závodszky P (2007) C1 inhibitor serpin domain structure reveals the likely mechanism of heparin potentiation and conformational disease. J Biol Chem 282:21100–21109PubMedCrossRef
14.
Zurück zum Zitat Russell JA, Whaley K, Heaphy S (1997) The sequence of a cDNA encoding functional murine C1-inhibitor protein. Biochim Biophys Acta 1352:156–160PubMedCrossRef Russell JA, Whaley K, Heaphy S (1997) The sequence of a cDNA encoding functional murine C1-inhibitor protein. Biochim Biophys Acta 1352:156–160PubMedCrossRef
15.
Zurück zum Zitat Lener M, Vinci G, Duponchel C, Meo T, Tosi M (1998) Molecular cloning, gene structure and expression profile of mouse C1 inhibitor. Eur J Biochem 254:117–122PubMedCrossRef Lener M, Vinci G, Duponchel C, Meo T, Tosi M (1998) Molecular cloning, gene structure and expression profile of mouse C1 inhibitor. Eur J Biochem 254:117–122PubMedCrossRef
16.
Zurück zum Zitat Carugati A, Pappalardo E, Zingale LC, Cicardi M (2001) C1-inhibitor deficiency and angioedema. Mol Immunol 38:161–173PubMedCrossRef Carugati A, Pappalardo E, Zingale LC, Cicardi M (2001) C1-inhibitor deficiency and angioedema. Mol Immunol 38:161–173PubMedCrossRef
17.
Zurück zum Zitat Stenson PD, Mort M, Ball EV, Shaw K, Phillips A, Cooper DN (2014) The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine. Hum Genet 133:1–9PubMedCrossRef Stenson PD, Mort M, Ball EV, Shaw K, Phillips A, Cooper DN (2014) The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine. Hum Genet 133:1–9PubMedCrossRef
18.
Zurück zum Zitat Kalmár L, Hegedüs T, Farkas H, Nagy M, Tordai A (2005) HAEdb: a novel interactive, locus-specific mutation database for the C1 inhibitor gene. Hum Mutat 25:1–5PubMedCrossRef Kalmár L, Hegedüs T, Farkas H, Nagy M, Tordai A (2005) HAEdb: a novel interactive, locus-specific mutation database for the C1 inhibitor gene. Hum Mutat 25:1–5PubMedCrossRef
19.
Zurück zum Zitat Amrani N, Sachs MS, Jacobsen A (2006) Early nonsense: mRNA decay solves a translational problem. Nat Rev Mol Cell Biol 7:415–425PubMedCrossRef Amrani N, Sachs MS, Jacobsen A (2006) Early nonsense: mRNA decay solves a translational problem. Nat Rev Mol Cell Biol 7:415–425PubMedCrossRef
20.
Zurück zum Zitat Carter PE, Duponchel C, Tosi M, Fothergill JE (1991) Complete nucleotide sequence for the C1 inhibitor with an unusually high density of Alu elements. Eur J Biochem 197:301–308PubMedCrossRef Carter PE, Duponchel C, Tosi M, Fothergill JE (1991) Complete nucleotide sequence for the C1 inhibitor with an unusually high density of Alu elements. Eur J Biochem 197:301–308PubMedCrossRef
21.
Zurück zum Zitat Antonarakis SE, The Nomenclature Working Group (1998) Recommendations for a nomenclature system for human gene mutations. Hum Mutat 11:1–3PubMedCrossRef Antonarakis SE, The Nomenclature Working Group (1998) Recommendations for a nomenclature system for human gene mutations. Hum Mutat 11:1–3PubMedCrossRef
22.
Zurück zum Zitat Parad RB, Kramer J, Strunk RC, Rosen FS, Davis AE (1990) Dysfunctional C1 inhibitor Ta: deletion of Lys-251 results in acquisition of an N-glycosylation site. Proc Natl Acad Sci U S A 87:6786–6790PubMedPubMedCentralCrossRef Parad RB, Kramer J, Strunk RC, Rosen FS, Davis AE (1990) Dysfunctional C1 inhibitor Ta: deletion of Lys-251 results in acquisition of an N-glycosylation site. Proc Natl Acad Sci U S A 87:6786–6790PubMedPubMedCentralCrossRef
24.
Zurück zum Zitat Blanch A, Roche O, Urrutia I, Gamboa P, Fontán G, López-Trascasa M (2006) First case of homozygous C1 inhibitor deficiency. J Allergy Clin Immunol 118:1330–1335PubMedCrossRef Blanch A, Roche O, Urrutia I, Gamboa P, Fontán G, López-Trascasa M (2006) First case of homozygous C1 inhibitor deficiency. J Allergy Clin Immunol 118:1330–1335PubMedCrossRef
25.
Zurück zum Zitat Lopez-Lera A, Favier B, de la Cruz RM, Garrido S, Drouet C, López-Trascasa M (2010) A new case of homozygous C1-inhibitor deficiency suggests a role for Arg378 in the control of kinin pathway activation. J Allergy Clin Immunol 126:1307–1310PubMedCrossRef Lopez-Lera A, Favier B, de la Cruz RM, Garrido S, Drouet C, López-Trascasa M (2010) A new case of homozygous C1-inhibitor deficiency suggests a role for Arg378 in the control of kinin pathway activation. J Allergy Clin Immunol 126:1307–1310PubMedCrossRef
26.
Zurück zum Zitat Bafunno V, Divella C, Sessa F, Tiscia GL, Castellano G, Gesualdo L, Margaglione M, Montinaro V (2013) De novo homozygous mutation of the C1 inhibitor gene in a patient with hereditary angioedema. J Allergy Clin Immunol 132:748–750PubMedCrossRef Bafunno V, Divella C, Sessa F, Tiscia GL, Castellano G, Gesualdo L, Margaglione M, Montinaro V (2013) De novo homozygous mutation of the C1 inhibitor gene in a patient with hereditary angioedema. J Allergy Clin Immunol 132:748–750PubMedCrossRef
27.
Zurück zum Zitat Yu TC, Shyur SD, Huang LH, Wen DC, Li JS (2007) Paternal mosaicism and hereditary angioedema in a Taiwanese family. Ann Allergy Asthma Immunol 99:375–379PubMedCrossRef Yu TC, Shyur SD, Huang LH, Wen DC, Li JS (2007) Paternal mosaicism and hereditary angioedema in a Taiwanese family. Ann Allergy Asthma Immunol 99:375–379PubMedCrossRef
28.
Zurück zum Zitat Guarino S, Perricone C, Guarino MD, Giardina E, Gambardella S, Rosaria D’Apice M, Bulli C, Perricone R, Novelli G (2006) Gonadal mosaicism in hereditary angioedema. Clin Genet 70:83–85PubMedCrossRef Guarino S, Perricone C, Guarino MD, Giardina E, Gambardella S, Rosaria D’Apice M, Bulli C, Perricone R, Novelli G (2006) Gonadal mosaicism in hereditary angioedema. Clin Genet 70:83–85PubMedCrossRef
29.
Zurück zum Zitat Cicardi M, Igarashi T, Rosen FS, Davis AE 3rd (1987) Molecular basis for the deficiency of complement 1 inhibitor in type I hereditary angioneurotic edema. J Clin Invest 79:698–702PubMedPubMedCentralCrossRef Cicardi M, Igarashi T, Rosen FS, Davis AE 3rd (1987) Molecular basis for the deficiency of complement 1 inhibitor in type I hereditary angioneurotic edema. J Clin Invest 79:698–702PubMedPubMedCentralCrossRef
30.
Zurück zum Zitat Quastel M, Harrison R, Cicardi M, Alper CA, Rosen FS (1983) Behavior in vivo of normal and dysfunctional C1 inhibitor in normal subjects and patients with hereditary angioneurotic edema. J Clin Invest 71:1041–1046PubMedPubMedCentralCrossRef Quastel M, Harrison R, Cicardi M, Alper CA, Rosen FS (1983) Behavior in vivo of normal and dysfunctional C1 inhibitor in normal subjects and patients with hereditary angioneurotic edema. J Clin Invest 71:1041–1046PubMedPubMedCentralCrossRef
31.
Zurück zum Zitat Kramer J, Rosen FS, Colten HR, Rajczy K, Strunk RC (1993) Transinhibition of C1 inhibitor synthesis in type I hereditary angioneurotic edema. J Clin Invest 91:1258–1262PubMedPubMedCentralCrossRef Kramer J, Rosen FS, Colten HR, Rajczy K, Strunk RC (1993) Transinhibition of C1 inhibitor synthesis in type I hereditary angioneurotic edema. J Clin Invest 91:1258–1262PubMedPubMedCentralCrossRef
32.
Zurück zum Zitat Ernst SC, Circolo A, Davis AE 3rd, Gheesling-Mullis K, Fliesler M, Strunk RC (1996) Impaired production of both normal and mutant C1 inhibitor proteins in type I hereditary angioedema with a duplication in exon 8. J Immunol 157:405–410PubMed Ernst SC, Circolo A, Davis AE 3rd, Gheesling-Mullis K, Fliesler M, Strunk RC (1996) Impaired production of both normal and mutant C1 inhibitor proteins in type I hereditary angioedema with a duplication in exon 8. J Immunol 157:405–410PubMed
33.
Zurück zum Zitat Pappalardo E, Zingale LC, Cicardi M (2004) C1 inhibitor gene expression in patients with hereditary angioedema: quantitative evaluation by means of real-time RT-PCR. J Allergy Clin Immunol 114:638–644PubMedCrossRef Pappalardo E, Zingale LC, Cicardi M (2004) C1 inhibitor gene expression in patients with hereditary angioedema: quantitative evaluation by means of real-time RT-PCR. J Allergy Clin Immunol 114:638–644PubMedCrossRef
34.
Zurück zum Zitat Emonts M, de Jongh CE, Houwing-Duistermaat JJ, van Leeuwen WB, de Groot R, Verbrugh HA, Hermans PW, van Belkum A (2007) Association between nasal carriage of Staphylococcus aureus and the human complement cascade activator serine protease C1 inhibitor (C1INH) valine vs. methionine polymorphism at amino acid position 480. FEMS Immunol Med Microbiol 50:330–332PubMedCrossRef Emonts M, de Jongh CE, Houwing-Duistermaat JJ, van Leeuwen WB, de Groot R, Verbrugh HA, Hermans PW, van Belkum A (2007) Association between nasal carriage of Staphylococcus aureus and the human complement cascade activator serine protease C1 inhibitor (C1INH) valine vs. methionine polymorphism at amino acid position 480. FEMS Immunol Med Microbiol 50:330–332PubMedCrossRef
35.
Zurück zum Zitat Ennis S, Jomary C, Mullins R, Cree A, Chen X, Macleod A, Jones S, Collins A, Stone E, Lotery A (2008) Association between the SERPING1 gene and age-related macular degeneration: a two-stage case–control study. Lancet 372:1828–1834PubMedCrossRef Ennis S, Jomary C, Mullins R, Cree A, Chen X, Macleod A, Jones S, Collins A, Stone E, Lotery A (2008) Association between the SERPING1 gene and age-related macular degeneration: a two-stage case–control study. Lancet 372:1828–1834PubMedCrossRef
36.
Zurück zum Zitat Kralovicova J, Vorechovsky I (2009) SERPING1 rs2511988 and age-related macular degeneration. Lancet 373:461–462PubMedCrossRef Kralovicova J, Vorechovsky I (2009) SERPING1 rs2511988 and age-related macular degeneration. Lancet 373:461–462PubMedCrossRef
37.
Zurück zum Zitat Lu F, Zhao P, Fan Y, Tang S, Hu J, Liu X et al (2010) An association study of SERPING1 gene and age-related macular degeneration in a Han Chinese population. Mol Vis 16:1–6PubMedPubMedCentral Lu F, Zhao P, Fan Y, Tang S, Hu J, Liu X et al (2010) An association study of SERPING1 gene and age-related macular degeneration in a Han Chinese population. Mol Vis 16:1–6PubMedPubMedCentral
38.
Zurück zum Zitat Nakata I, Yamashiro K, Yamada R, Gotoh N, Nakanishi H, Hayashi H et al (2011) Association between the SERPING1 gene and age-related macular degeneration and polypoidal choroidal vasculopathy in Japanese. PLoS One 6:e19108PubMedPubMedCentralCrossRef Nakata I, Yamashiro K, Yamada R, Gotoh N, Nakanishi H, Hayashi H et al (2011) Association between the SERPING1 gene and age-related macular degeneration and polypoidal choroidal vasculopathy in Japanese. PLoS One 6:e19108PubMedPubMedCentralCrossRef
39.
Zurück zum Zitat Zahedi R, Wisnieski J, Davies AE 3rd (1997) Role of the P2 residue of complement 1 inhibitor (Ala443) in determination of target protease specificity: inhibition of complement and contact system proteases. J Immunol 159:983–988PubMed Zahedi R, Wisnieski J, Davies AE 3rd (1997) Role of the P2 residue of complement 1 inhibitor (Ala443) in determination of target protease specificity: inhibition of complement and contact system proteases. J Immunol 159:983–988PubMed
40.
Zurück zum Zitat Pappalardo E, Cicardi M, Duponchel C, Carugati A, Choquet S, Agostoni A, Tosi M (2000) Frequent de novo mutations and exon deletions in the C1 inhibitor gene of patients with angioedema. J Allergy Clin Immunol 106:1147–1154PubMedCrossRef Pappalardo E, Cicardi M, Duponchel C, Carugati A, Choquet S, Agostoni A, Tosi M (2000) Frequent de novo mutations and exon deletions in the C1 inhibitor gene of patients with angioedema. J Allergy Clin Immunol 106:1147–1154PubMedCrossRef
41.
Zurück zum Zitat Pappalardo E, Zingale LC, Terlizzi A, Zanichelli A, Folcioni A, Cicardi M (2002) Mechanisms of C1-inhibitor deficiency. Immunobiology 205:542–551PubMedCrossRef Pappalardo E, Zingale LC, Terlizzi A, Zanichelli A, Folcioni A, Cicardi M (2002) Mechanisms of C1-inhibitor deficiency. Immunobiology 205:542–551PubMedCrossRef
42.
Zurück zum Zitat Cicardi M, Zingale L, Zanichelli A, Pappalardo E, Cicardi B (2005) C1 inhibitor: molecular and clinical aspects. Springer Semin Immunopathol 27:286–298PubMedCrossRef Cicardi M, Zingale L, Zanichelli A, Pappalardo E, Cicardi B (2005) C1 inhibitor: molecular and clinical aspects. Springer Semin Immunopathol 27:286–298PubMedCrossRef
43.
Zurück zum Zitat Tosi M, Duponchel C, Bourgarel P, Colomb M, Meo T (1986) Molecular cloning of human C1 inhibitor: sequence homologies with α1-antitrypsin and other members of the serpins superfamily. Gene 42:265–272PubMedCrossRef Tosi M, Duponchel C, Bourgarel P, Colomb M, Meo T (1986) Molecular cloning of human C1 inhibitor: sequence homologies with α1-antitrypsin and other members of the serpins superfamily. Gene 42:265–272PubMedCrossRef
44.
Zurück zum Zitat Stoppa-Lyonnet D, Carter PE, Meo T, Tosi M (1990) Clusters of intragenic Alu repeats predispose the human C1 inhibitor locus to deleterious rearrangements. Proc Natl Acad Sci U S A 87:1551–1555PubMedPubMedCentralCrossRef Stoppa-Lyonnet D, Carter PE, Meo T, Tosi M (1990) Clusters of intragenic Alu repeats predispose the human C1 inhibitor locus to deleterious rearrangements. Proc Natl Acad Sci U S A 87:1551–1555PubMedPubMedCentralCrossRef
45.
Zurück zum Zitat Skriver K, Radziejewska E, Silbermann JA, Donaldson VH, Bock SC (1989) CpG mutations in the reactive site of human C1 inhibitor. J Biol Chem 264:3066–3071PubMed Skriver K, Radziejewska E, Silbermann JA, Donaldson VH, Bock SC (1989) CpG mutations in the reactive site of human C1 inhibitor. J Biol Chem 264:3066–3071PubMed
46.
Zurück zum Zitat Roche O, Blanch A, Duponchel C, Fontan G, Tosi M, Lopez-Trascasa M (2005) Hereditary angioedema: the mutation spectrum of SERPING1/C1NH in a large Spanish cohort. Hum Mutat 26:135–44PubMedCrossRef Roche O, Blanch A, Duponchel C, Fontan G, Tosi M, Lopez-Trascasa M (2005) Hereditary angioedema: the mutation spectrum of SERPING1/C1NH in a large Spanish cohort. Hum Mutat 26:135–44PubMedCrossRef
47.
Zurück zum Zitat Speletas M, Boukas K, Papadopoulou-Alataki E, Tsitsami E, Germenis AE (2009) Hereditary angioedema in Greek families caused by novel and recurrent mutations. Hum Immunol 70:925–929PubMedCrossRef Speletas M, Boukas K, Papadopoulou-Alataki E, Tsitsami E, Germenis AE (2009) Hereditary angioedema in Greek families caused by novel and recurrent mutations. Hum Immunol 70:925–929PubMedCrossRef
48.
Zurück zum Zitat Davies MJ, Lomas DA (2008) The molecular aetiology of the serpinopathies. Int J Biochem Cell Biol 40:1273–1286PubMedCrossRef Davies MJ, Lomas DA (2008) The molecular aetiology of the serpinopathies. Int J Biochem Cell Biol 40:1273–1286PubMedCrossRef
49.
Zurück zum Zitat Eldering E, Verpy E, Roem D, Meo T, Tosi M (1995) COOH-terminal substitutions in the serpin C1 inhibitor that cause loop overinsertion and subsequent multimerization. J Biol Chem 270:2579–2587PubMedCrossRef Eldering E, Verpy E, Roem D, Meo T, Tosi M (1995) COOH-terminal substitutions in the serpin C1 inhibitor that cause loop overinsertion and subsequent multimerization. J Biol Chem 270:2579–2587PubMedCrossRef
50.
Zurück zum Zitat Aulak KS, Eldering E, Hack CE, Lubbers YP, Harrison RA, Mast A, Cicardi M, Davis AE 3rd (1993) A hinge region mutation in C1-inhibitor (Ala436→Thr) results in nonsubstrate-like behavior and in polymerization of the molecule. J Biol Chem 268:18088–18094PubMed Aulak KS, Eldering E, Hack CE, Lubbers YP, Harrison RA, Mast A, Cicardi M, Davis AE 3rd (1993) A hinge region mutation in C1-inhibitor (Ala436→Thr) results in nonsubstrate-like behavior and in polymerization of the molecule. J Biol Chem 268:18088–18094PubMed
51.
Zurück zum Zitat Madsen DE, Hansen S, Gram J, Bygum A, Drouet C, Sidelmann JJ (2014) Presence of C1-inhibitor polymers in a subset of patients suffering from hereditary angioedema. PLoS One 9:e112051PubMedPubMedCentralCrossRef Madsen DE, Hansen S, Gram J, Bygum A, Drouet C, Sidelmann JJ (2014) Presence of C1-inhibitor polymers in a subset of patients suffering from hereditary angioedema. PLoS One 9:e112051PubMedPubMedCentralCrossRef
52.
Zurück zum Zitat Maas C, Govers-Riemslag JW, Bouma B, Schiks B, Hazenberg BP, Lokhorst HM et al (2008) Misfolded proteins activate factor XII in humans, leading to kallikrein formation without initiating coagulation. J Clin Invest 118:3208–3218PubMedPubMedCentral Maas C, Govers-Riemslag JW, Bouma B, Schiks B, Hazenberg BP, Lokhorst HM et al (2008) Misfolded proteins activate factor XII in humans, leading to kallikrein formation without initiating coagulation. J Clin Invest 118:3208–3218PubMedPubMedCentral
53.
Zurück zum Zitat Cugno M, Zanichelli A, Foieni F, Caccia S, Cicardi M (2009) C1-inhibitor deficiency and angioedema: molecular mechanisms and clinical progress. Trends Mol Med 15:69–78PubMedCrossRef Cugno M, Zanichelli A, Foieni F, Caccia S, Cicardi M (2009) C1-inhibitor deficiency and angioedema: molecular mechanisms and clinical progress. Trends Mol Med 15:69–78PubMedCrossRef
54.
Zurück zum Zitat Ghannam A, Sellier P, Defendi F, Favier B, Charignon D, López-Lera A, López-Trascasa M, Ponard D, Drouet C (2015) C1 inhibitor function using contact-phase proteases as target: evaluation of an innovative assay. Allergy 70:1103–1111PubMedCrossRef Ghannam A, Sellier P, Defendi F, Favier B, Charignon D, López-Lera A, López-Trascasa M, Ponard D, Drouet C (2015) C1 inhibitor function using contact-phase proteases as target: evaluation of an innovative assay. Allergy 70:1103–1111PubMedCrossRef
55.
Zurück zum Zitat Duponchel C, Djenouhat K, Frémeaux-Bacchi V, Monnier N, Drouet C, Tosi M (2006) Functional analysis of splicing mutations and of an exon 2 polymorphic variant of SERPING1/C1NH. Hum Mutat 27:295–296PubMedCrossRef Duponchel C, Djenouhat K, Frémeaux-Bacchi V, Monnier N, Drouet C, Tosi M (2006) Functional analysis of splicing mutations and of an exon 2 polymorphic variant of SERPING1/C1NH. Hum Mutat 27:295–296PubMedCrossRef
56.
Zurück zum Zitat Roche O, Blanch A, Caballero T, Sastre N, Callejo D, López-Trascasa M (2005) Hereditary angioedema due to C1 inhibitor deficiency: patient registry and approach to the prevalence in Spain. Ann Allergy Asthma Immunol 94:498–503PubMedCrossRef Roche O, Blanch A, Caballero T, Sastre N, Callejo D, López-Trascasa M (2005) Hereditary angioedema due to C1 inhibitor deficiency: patient registry and approach to the prevalence in Spain. Ann Allergy Asthma Immunol 94:498–503PubMedCrossRef
57.
Zurück zum Zitat Schouten JP, McElgunn CJ, Waaijer R, Zwijnenburg D, Diepvens F, Pals G (2002) Relative quantifications of 40 nucleic acid sequences by multiplex ligation dependent probe amplification. Nucleic Acids Res 30:e57PubMedPubMedCentralCrossRef Schouten JP, McElgunn CJ, Waaijer R, Zwijnenburg D, Diepvens F, Pals G (2002) Relative quantifications of 40 nucleic acid sequences by multiplex ligation dependent probe amplification. Nucleic Acids Res 30:e57PubMedPubMedCentralCrossRef
58.
Zurück zum Zitat Kang HR, Yim EY, Oh SY, Chang YS, Kim YK, Cho SH, Min KU, Kim YY (2006) Normal C1 inhibitor mRNA expression level in type I hereditary angioedema patients: newly found C1 inhibitor gene mutations. Allergy 61:260–264PubMedCrossRef Kang HR, Yim EY, Oh SY, Chang YS, Kim YK, Cho SH, Min KU, Kim YY (2006) Normal C1 inhibitor mRNA expression level in type I hereditary angioedema patients: newly found C1 inhibitor gene mutations. Allergy 61:260–264PubMedCrossRef
59.
Zurück zum Zitat Colobran R, Pujol-Borrell R, Hernández-González M, Guilarte M (2014) A novel splice site mutation in the SERPING1 gene leads to haploinsufficiency by complete degradation of the mutant allele mRNA in a case of familial hereditary angioedema. J Clin Immunol 34:521–523PubMedCrossRef Colobran R, Pujol-Borrell R, Hernández-González M, Guilarte M (2014) A novel splice site mutation in the SERPING1 gene leads to haploinsufficiency by complete degradation of the mutant allele mRNA in a case of familial hereditary angioedema. J Clin Immunol 34:521–523PubMedCrossRef
60.
Zurück zum Zitat Bork K, Davis-Lorton M (2013) Overview of hereditary angioedema caused by C1-inhibitor deficiency: assessment and clinical management. Eur Ann Allergy Clin Immunol 45:7–16PubMed Bork K, Davis-Lorton M (2013) Overview of hereditary angioedema caused by C1-inhibitor deficiency: assessment and clinical management. Eur Ann Allergy Clin Immunol 45:7–16PubMed
62.
Zurück zum Zitat Davis AE 3rd (2008) Hereditary angioedema: a current state-of-the-art review, III: mechanisms of hereditary angioedema. Ann Allergy Asthma Immunol 100:S7–S12PubMedCrossRef Davis AE 3rd (2008) Hereditary angioedema: a current state-of-the-art review, III: mechanisms of hereditary angioedema. Ann Allergy Asthma Immunol 100:S7–S12PubMedCrossRef
63.
Zurück zum Zitat Cardarelli W (2013) Managed care implications of hereditary angioedema. Am J Manag Care 19(7 Suppl):s119–24PubMed Cardarelli W (2013) Managed care implications of hereditary angioedema. Am J Manag Care 19(7 Suppl):s119–24PubMed
64.
Zurück zum Zitat Kramer J, Rosen FS, Colten HR, Kramer J, Rosen FS, Colten HR (1993) Transinhibition of C1 inhibitor synthesis in type I hereditary angioneurotic edema. J Clin Invest 91:1258–1262PubMedPubMedCentralCrossRef Kramer J, Rosen FS, Colten HR, Kramer J, Rosen FS, Colten HR (1993) Transinhibition of C1 inhibitor synthesis in type I hereditary angioneurotic edema. J Clin Invest 91:1258–1262PubMedPubMedCentralCrossRef
65.
Zurück zum Zitat Verpy E, Biasotto M, Brai M, Misiano G, Meo T, Tosi M (1996) Exhaustive mutation scanning by fluorescence-assisted mismatch analysis discloses new genotype-phenotype correlations in angiodema. Am J Hum Genet 59:308–319PubMedPubMedCentral Verpy E, Biasotto M, Brai M, Misiano G, Meo T, Tosi M (1996) Exhaustive mutation scanning by fluorescence-assisted mismatch analysis discloses new genotype-phenotype correlations in angiodema. Am J Hum Genet 59:308–319PubMedPubMedCentral
66.
Zurück zum Zitat Agostoni A, Aygören-Pürsün E, Binkley KE, Blanch A, Bork K, Bouillet L et al (2004) Hereditary and acquired angioedema: problems and progress: proceedings of the third C1 esterase inhibitor deficiency workshop and beyond. J Allergy Clin Immunol 114(3 Suppl):S51–S131PubMedCrossRef Agostoni A, Aygören-Pürsün E, Binkley KE, Blanch A, Bork K, Bouillet L et al (2004) Hereditary and acquired angioedema: problems and progress: proceedings of the third C1 esterase inhibitor deficiency workshop and beyond. J Allergy Clin Immunol 114(3 Suppl):S51–S131PubMedCrossRef
67.
Zurück zum Zitat Xu YY, Zhi YX, Yin J, Wang LL, Wen LP, Gu JQ, Guan K, Craig T, Zhang HY (2012) Mutational spectrum and geno-phenotype correlation in Chinese families with hereditary angioedema. Allergy 67:1430–1436PubMedCrossRef Xu YY, Zhi YX, Yin J, Wang LL, Wen LP, Gu JQ, Guan K, Craig T, Zhang HY (2012) Mutational spectrum and geno-phenotype correlation in Chinese families with hereditary angioedema. Allergy 67:1430–1436PubMedCrossRef
68.
Zurück zum Zitat Bafunno V, Bova M, Loffredo S, Divella C, Petraroli A, Marone G, Montinaro V, Margaglione M, Triggiani M (2014) Mutational spectrum of the C1 inhibitor gene in a cohort of Italian patients with hereditary angioedema: description of nine novel mutations. Ann Hum Genet 78:73–82PubMedCrossRef Bafunno V, Bova M, Loffredo S, Divella C, Petraroli A, Marone G, Montinaro V, Margaglione M, Triggiani M (2014) Mutational spectrum of the C1 inhibitor gene in a cohort of Italian patients with hereditary angioedema: description of nine novel mutations. Ann Hum Genet 78:73–82PubMedCrossRef
69.
Zurück zum Zitat Farkas H (2010) Pediatric hereditary angioedema due to C1-inhibitor deficiency. Allergy, Asthma Clin Immunol 6:18CrossRef Farkas H (2010) Pediatric hereditary angioedema due to C1-inhibitor deficiency. Allergy, Asthma Clin Immunol 6:18CrossRef
70.
Zurück zum Zitat Bork K, Meng G, Staubach P, Hardt J (2006) Hereditary angioedema: new findings concerning symptoms, affected organs, and course. Am J Med 119:267–274PubMedCrossRef Bork K, Meng G, Staubach P, Hardt J (2006) Hereditary angioedema: new findings concerning symptoms, affected organs, and course. Am J Med 119:267–274PubMedCrossRef
71.
Zurück zum Zitat Andrejević S, Korošec P, Šilar M, Košnik M, Mijanović R, Bonači-Nikolić B, Rijavec M (2015) Hereditary angioedema due to C1 inhibitor deficiency 1 in Serbia: two novel mutations and evidence of genotype-phenotype correlation. PLoS One 10(11): e0142174 Andrejević S, Korošec P, Šilar M, Košnik M, Mijanović R, Bonači-Nikolić B, Rijavec M (2015) Hereditary angioedema due to C1 inhibitor deficiency 1 in Serbia: two novel mutations and evidence of genotype-phenotype correlation. PLoS One 10(11): e0142174
72.
Zurück zum Zitat Kalmár L, Bors A, Farkas H, Vas S, Fandl B, Varga L, Füst G, Tordai A (2003) Mutation screening of the C1 inhibitor gene among Hungarian patients with hereditary angioedema. Hum Mutat 22:498PubMedCrossRef Kalmár L, Bors A, Farkas H, Vas S, Fandl B, Varga L, Füst G, Tordai A (2003) Mutation screening of the C1 inhibitor gene among Hungarian patients with hereditary angioedema. Hum Mutat 22:498PubMedCrossRef
73.
Zurück zum Zitat Martinho A, Mendes J, Simões O, Nunes R, Gomes J, Dias Castro E et al (2013) Mutations analysis of C1 inhibitor coding sequence gene among Portuguese patients with hereditary angioedema. Mol Immunol 53:431–434PubMedCrossRef Martinho A, Mendes J, Simões O, Nunes R, Gomes J, Dias Castro E et al (2013) Mutations analysis of C1 inhibitor coding sequence gene among Portuguese patients with hereditary angioedema. Mol Immunol 53:431–434PubMedCrossRef
74.
Zurück zum Zitat Cumming SA, Halsall DJ, Ewan PW, Lomas DA (2003) The effect of sequence variations within the coding region of the C1 inhibitor gene on disease expression and protein function in families with hereditary angiooedema. J Med Genet 40:e114PubMedPubMedCentralCrossRef Cumming SA, Halsall DJ, Ewan PW, Lomas DA (2003) The effect of sequence variations within the coding region of the C1 inhibitor gene on disease expression and protein function in families with hereditary angiooedema. J Med Genet 40:e114PubMedPubMedCentralCrossRef
75.
Zurück zum Zitat Bygum A, Fagerberg CR, Ponard D, Monnier N, Lunardi J, Drouet C (2011) Mutational spectrum and phenotypes in Danish families with hereditary angioedema because of C1 inhibitor deficiency. Allergy 66:76–84PubMedCrossRef Bygum A, Fagerberg CR, Ponard D, Monnier N, Lunardi J, Drouet C (2011) Mutational spectrum and phenotypes in Danish families with hereditary angioedema because of C1 inhibitor deficiency. Allergy 66:76–84PubMedCrossRef
76.
Zurück zum Zitat Blaskó B, Széplaki G, Varga L, Ronai Z, Prohászka Z, Sasvari-Szekely M, Visy B, Farkas H, Füst G (2007) Relationship between copy number of genes (C4A, C4B) encoding the fourth component of complement and the clinical course of hereditary angioedema (HAE). Mol Immunol 44:2667–2674PubMedCrossRef Blaskó B, Széplaki G, Varga L, Ronai Z, Prohászka Z, Sasvari-Szekely M, Visy B, Farkas H, Füst G (2007) Relationship between copy number of genes (C4A, C4B) encoding the fourth component of complement and the clinical course of hereditary angioedema (HAE). Mol Immunol 44:2667–2674PubMedCrossRef
77.
Zurück zum Zitat Lung CC, Chan EK, Zuraw BL (1997) Analysis of an exon 1 polymorphism of the B2 bradykinin receptor gene and its transcript in normal subjects and patients with C1 inhibitor deficiency. J Allergy Clin Immunol 99:134–146PubMed Lung CC, Chan EK, Zuraw BL (1997) Analysis of an exon 1 polymorphism of the B2 bradykinin receptor gene and its transcript in normal subjects and patients with C1 inhibitor deficiency. J Allergy Clin Immunol 99:134–146PubMed
78.
Zurück zum Zitat Freiberger T, Vyskocilová M, Kolárová L, Kuklínek P, Krystůfková O, Lahodná M, Hanzlíková J, Litzman J (2002) Exon 1 polymorphism of the B2BKR gene does not influence the clinical status of patients with hereditary angioedema. Hum Immunol 63:492–494PubMedCrossRef Freiberger T, Vyskocilová M, Kolárová L, Kuklínek P, Krystůfková O, Lahodná M, Hanzlíková J, Litzman J (2002) Exon 1 polymorphism of the B2BKR gene does not influence the clinical status of patients with hereditary angioedema. Hum Immunol 63:492–494PubMedCrossRef
79.
Zurück zum Zitat Freiberger T, Grombiříková H, Ravčuková B, Jarkovský J, Kuklínek P, Kryštůfková O, Hanzlíková J et al (2011) No evidence for linkage between the hereditary angiooedema clinical phenotype and the BDKR1, BDKR2, ACE or MBL2 gene. Scand J Immunol 74:100–106PubMedCrossRef Freiberger T, Grombiříková H, Ravčuková B, Jarkovský J, Kuklínek P, Kryštůfková O, Hanzlíková J et al (2011) No evidence for linkage between the hereditary angiooedema clinical phenotype and the BDKR1, BDKR2, ACE or MBL2 gene. Scand J Immunol 74:100–106PubMedCrossRef
80.
Zurück zum Zitat Kaplan AP, Joseph K (2014) Pathogenic mechanisms of bradykinin mediated diseases: dysregulation of an innate inflammatory pathway. Adv Immunol 121:41–89PubMedCrossRef Kaplan AP, Joseph K (2014) Pathogenic mechanisms of bradykinin mediated diseases: dysregulation of an innate inflammatory pathway. Adv Immunol 121:41–89PubMedCrossRef
81.
Zurück zum Zitat Kanaji T, Okamura T, Osaki K, Kuroiwa M, Shimoda K, Hamasaki N, Niho Y (1998) 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 91:2010–2014PubMed Kanaji T, Okamura T, Osaki K, Kuroiwa M, Shimoda K, Hamasaki N, Niho Y (1998) 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 91:2010–2014PubMed
82.
Zurück zum Zitat Bork K, Barnstedt S, Koch P, Traupe H (2000) Hereditary angioedema with normal C1-inhibitor activity in women. Lancet 356:213–217PubMedCrossRef Bork K, Barnstedt S, Koch P, Traupe H (2000) Hereditary angioedema with normal C1-inhibitor activity in women. Lancet 356:213–217PubMedCrossRef
83.
Zurück zum Zitat Binkley K, Davis AE III (2000) Clinical, biochemical, and genetic characterization of a novel estrogen-dependent inherited form of angioedema. J Allergy Clin Immunol 106:546–550PubMedCrossRef Binkley K, Davis AE III (2000) Clinical, biochemical, and genetic characterization of a novel estrogen-dependent inherited form of angioedema. J Allergy Clin Immunol 106:546–550PubMedCrossRef
84.
Zurück zum Zitat Riedl MA (2013) Hereditary angioedema with normal C1-INH (HAE type III). J Allergy Clin Immunol Pract 1:427–432PubMedCrossRef Riedl MA (2013) Hereditary angioedema with normal C1-INH (HAE type III). J Allergy Clin Immunol Pract 1:427–432PubMedCrossRef
85.
Zurück zum Zitat Royle NJ, Nigli M, Cool D, MacGillivray RT, Hamerton JL (1988) Structural gene encoding human factor XII is located at 5q33-qter. Somat Cell Mol Genet 14:217–221PubMedCrossRef Royle NJ, Nigli M, Cool D, MacGillivray RT, Hamerton JL (1988) Structural gene encoding human factor XII is located at 5q33-qter. Somat Cell Mol Genet 14:217–221PubMedCrossRef
86.
Zurück zum Zitat Schloesser M, Zeerleder S, Lutze G, Halbmayer WM, Hofferbert S, Hinney B et al (1997) Mutations in the human factor XII gene. Blood 90:3967–3977PubMed Schloesser M, Zeerleder S, Lutze G, Halbmayer WM, Hofferbert S, Hinney B et al (1997) Mutations in the human factor XII gene. Blood 90:3967–3977PubMed
87.
Zurück zum Zitat Bork K, Wulff K, Meinke P, Wagner N, Hardt J, Witzke G (2011) A novel mutation in the coagulation factor 12 gene in subjects with hereditary angioedema and normal C1-inhibitor. Clin Immunol 141:31–35PubMedCrossRef Bork K, Wulff K, Meinke P, Wagner N, Hardt J, Witzke G (2011) A novel mutation in the coagulation factor 12 gene in subjects with hereditary angioedema and normal C1-inhibitor. Clin Immunol 141:31–35PubMedCrossRef
88.
Zurück zum Zitat Bork K, Wulff K, Hardt J, Witzke G, Lohse P (2014) Characterization of a partial exon 9/intron 9 deletion in the coagulation factor XII gene (F12) detected in two Turkish families with hereditary angioedema and normal C1 inhibitor. Haemophilia 20:e372–e375PubMedCrossRef Bork K, Wulff K, Hardt J, Witzke G, Lohse P (2014) Characterization of a partial exon 9/intron 9 deletion in the coagulation factor XII gene (F12) detected in two Turkish families with hereditary angioedema and normal C1 inhibitor. Haemophilia 20:e372–e375PubMedCrossRef
89.
Zurück zum Zitat Kiss N, Barabas E, Varnai K, Halász A, Varga LÁ, Prohászka Z, Farkas H, Szilágyi Á (2013) Novel duplication in the F12 gene in a patient with recurrent angioedema. Clin Immunol 149:142–145PubMedCrossRef Kiss N, Barabas E, Varnai K, Halász A, Varga LÁ, Prohászka Z, Farkas H, Szilágyi Á (2013) Novel duplication in the F12 gene in a patient with recurrent angioedema. Clin Immunol 149:142–145PubMedCrossRef
90.
Zurück zum Zitat Moreno AS, Valle SO, Levy S, França AT, Serpa FS, Arcuri HA, Palma MS et al (2015) Coagulation factor XII gene mutation in Brazilian families with hereditary angioedema with normal C1 inhibitor. Int Arch Allergy Immunol 166:114–120PubMedCrossRef Moreno AS, Valle SO, Levy S, França AT, Serpa FS, Arcuri HA, Palma MS et al (2015) Coagulation factor XII gene mutation in Brazilian families with hereditary angioedema with normal C1 inhibitor. Int Arch Allergy Immunol 166:114–120PubMedCrossRef
91.
Zurück zum Zitat Cichon S, Martin L, Hennies HC, Müller F, Van Driessche K, Karpushova A, Stevens W et al (2006) Increased activity of coagulation factor XII (Hageman factor) causes hereditary angioedema type III. Am J Hum Genet 79:1098–1104PubMedPubMedCentralCrossRef Cichon S, Martin L, Hennies HC, Müller F, Van Driessche K, Karpushova A, Stevens W et al (2006) Increased activity of coagulation factor XII (Hageman factor) causes hereditary angioedema type III. Am J Hum Genet 79:1098–1104PubMedPubMedCentralCrossRef
92.
Zurück zum Zitat Bork K, Kleist R, Hardt J, Witzke G (2009) Kallikrein-kinin system and fibrinolysis in hereditary angioedema due to factor XII gene mutation Thr309Lys. Blood Coagul Fibrinolysis 20:325–332PubMedCrossRef Bork K, Kleist R, Hardt J, Witzke G (2009) Kallikrein-kinin system and fibrinolysis in hereditary angioedema due to factor XII gene mutation Thr309Lys. Blood Coagul Fibrinolysis 20:325–332PubMedCrossRef
93.
Zurück zum Zitat Bouillet L, Boccon-Gibod I, Ponard D, Drouet C, Cesbron JY, Dumestre-Perard C, Monnier N, Lunardi J, Massot C, Gompel A (2009) Bradykinin receptor 2 antagonist (icatibant) for hereditary angioedema type III attacks. Ann Allergy Asthma Immunol 103:448PubMedCrossRef Bouillet L, Boccon-Gibod I, Ponard D, Drouet C, Cesbron JY, Dumestre-Perard C, Monnier N, Lunardi J, Massot C, Gompel A (2009) Bradykinin receptor 2 antagonist (icatibant) for hereditary angioedema type III attacks. Ann Allergy Asthma Immunol 103:448PubMedCrossRef
94.
Zurück zum Zitat Bork K, Wulff K, Witzke G, Stanger C, Lohse P, Hardt J (2013) Antihistamine-resistant angioedema in women with negative family history: estrogens and F12 gene mutations. Am J Med 126:1142.e9–1142.e14CrossRef Bork K, Wulff K, Witzke G, Stanger C, Lohse P, Hardt J (2013) Antihistamine-resistant angioedema in women with negative family history: estrogens and F12 gene mutations. Am J Med 126:1142.e9–1142.e14CrossRef
95.
Zurück zum Zitat Gelincik A, Demir S, Olgaç M, Karaman V, Toksoy G, Çolakoğlu B, Büyüköztürk S, Uyguner ZO (2015) Idiopathic angioedema with F12 mutation: is it a new entity? Ann Allergy Asthma Immunol 114:154–156PubMedCrossRef Gelincik A, Demir S, Olgaç M, Karaman V, Toksoy G, Çolakoğlu B, Büyüköztürk S, Uyguner ZO (2015) Idiopathic angioedema with F12 mutation: is it a new entity? Ann Allergy Asthma Immunol 114:154–156PubMedCrossRef
96.
Zurück zum Zitat Hoover T, Lippmann M, Grouzmann E, Marceau F, Herscu P (2010) Angiotensin converting enzyme inhibitor induced angio-oedema: a review of the pathophysiology and risk factors. Clin Exp Allergy 40:50–61PubMed Hoover T, Lippmann M, Grouzmann E, Marceau F, Herscu P (2010) Angiotensin converting enzyme inhibitor induced angio-oedema: a review of the pathophysiology and risk factors. Clin Exp Allergy 40:50–61PubMed
97.
Zurück zum Zitat Duan QL, Nikpoor B, Dube MP, Molinaro G, Meijer IA, Dion P, Rochefort D et al (2005) A variant in XPNPEP2 is associated with angioedema induced by angiotensin I-converting enzyme inhibitors. Am J Hum Genet 77:617–26PubMedPubMedCentralCrossRef Duan QL, Nikpoor B, Dube MP, Molinaro G, Meijer IA, Dion P, Rochefort D et al (2005) A variant in XPNPEP2 is associated with angioedema induced by angiotensin I-converting enzyme inhibitors. Am J Hum Genet 77:617–26PubMedPubMedCentralCrossRef
98.
Zurück zum Zitat Woodard-Grice AV, Lucisano AC, Byrd JB, Stone ER, Simmons WH, Brown NJ (2010) Sex-dependent and race-dependent association of XPNPEP2 C-2399A polymorphism with angiotensin-converting enzyme inhibitor-associated angioedema. Pharmacogenet Genomics 20:532–536PubMedPubMedCentralCrossRef Woodard-Grice AV, Lucisano AC, Byrd JB, Stone ER, Simmons WH, Brown NJ (2010) Sex-dependent and race-dependent association of XPNPEP2 C-2399A polymorphism with angiotensin-converting enzyme inhibitor-associated angioedema. Pharmacogenet Genomics 20:532–536PubMedPubMedCentralCrossRef
99.
Zurück zum Zitat Cilia La Corte AL, Carter AM, Rice GI, Duan QL, Rouleau GA, Adam A, Grant PJ, Hooper NM (2011) A functional XPNPEP2 promoter haplotype leads to reduced plasma aminopeptidase P and increased risk of ACE inhibitor-induced angioedema. Hum Mutat 32:1326–13231PubMedCrossRef Cilia La Corte AL, Carter AM, Rice GI, Duan QL, Rouleau GA, Adam A, Grant PJ, Hooper NM (2011) A functional XPNPEP2 promoter haplotype leads to reduced plasma aminopeptidase P and increased risk of ACE inhibitor-induced angioedema. Hum Mutat 32:1326–13231PubMedCrossRef
100.
Zurück zum Zitat Moholisa RR, Rayner BR, Patricia Owen E, Schwager SL, Stark JS, Badri M, Cupido CL, Sturrock ED (2013) Association of B2 receptor polymorphisms and ACE activity with ACE inhibitor-induced angioedema in black and mixed-race South Africans. J Clin Hypertens 15:413–419CrossRef Moholisa RR, Rayner BR, Patricia Owen E, Schwager SL, Stark JS, Badri M, Cupido CL, Sturrock ED (2013) Association of B2 receptor polymorphisms and ACE activity with ACE inhibitor-induced angioedema in black and mixed-race South Africans. J Clin Hypertens 15:413–419CrossRef
101.
Zurück zum Zitat Van Guilder GP, Pretorius M, Luther JM, Byrd JB, Hill K, Gainer JV, Brown NJ (2008) Bradykinin type 2 receptor BE1 genotype influences bradykinin-dependent vasodilation during angiotensin-converting enzyme inhibition. Hypertension 51:454–459PubMedPubMedCentralCrossRef Van Guilder GP, Pretorius M, Luther JM, Byrd JB, Hill K, Gainer JV, Brown NJ (2008) Bradykinin type 2 receptor BE1 genotype influences bradykinin-dependent vasodilation during angiotensin-converting enzyme inhibition. Hypertension 51:454–459PubMedPubMedCentralCrossRef
102.
Zurück zum Zitat Pare G, Kubo M, Byrd JB, McCarty CA, Woodard-Grice A, Teo KK, Anand SS et al (2013) Genetic variants associated with angiotensin-converting enzyme inhibitor-associated angioedema. Pharmacogenet Genomics 23:470–478PubMedPubMedCentralCrossRef Pare G, Kubo M, Byrd JB, McCarty CA, Woodard-Grice A, Teo KK, Anand SS et al (2013) Genetic variants associated with angiotensin-converting enzyme inhibitor-associated angioedema. Pharmacogenet Genomics 23:470–478PubMedPubMedCentralCrossRef
103.
Zurück zum Zitat Roques BP, Noble F, Dauge V, Fournie-Zaluski MC, Beaumont A (1993) Neutral endopeptidase 24.11: structure, inhibition, and experimental and clinical pharmacology. Pharmacol Rev 45:87–146PubMed Roques BP, Noble F, Dauge V, Fournie-Zaluski MC, Beaumont A (1993) Neutral endopeptidase 24.11: structure, inhibition, and experimental and clinical pharmacology. Pharmacol Rev 45:87–146PubMed
104.
Zurück zum Zitat Salek-Ardakani S, So T, Halteman BS, Altman A, Croft M (2004) Differential regulation of Th2 and Th1 lung inflammatory responses by protein kinase C theta. J Immunol 173:6440–6447PubMedCrossRef Salek-Ardakani S, So T, Halteman BS, Altman A, Croft M (2004) Differential regulation of Th2 and Th1 lung inflammatory responses by protein kinase C theta. J Immunol 173:6440–6447PubMedCrossRef
105.
Zurück zum Zitat Bohlander SK (2005) ETV6: a versatile player in leukemogenesis. Semin Cancer Biol 15:162–174PubMedCrossRef Bohlander SK (2005) ETV6: a versatile player in leukemogenesis. Semin Cancer Biol 15:162–174PubMedCrossRef
106.
Zurück zum Zitat Boily G, Larose J, Langlois S, Sinnett D (2007) Identification of transcripts modulated by ETV6 expression. Br J Haematol 136:48–62PubMedCrossRef Boily G, Larose J, Langlois S, Sinnett D (2007) Identification of transcripts modulated by ETV6 expression. Br J Haematol 136:48–62PubMedCrossRef
107.
Zurück zum Zitat Sakurai T, Yamada T, Kihara-Negishi F, Teramoto S, Sato Y, Izawa T, Oikawa T (2003) Effects of overexpression of the Ets family transcription factor TEL on cell growth and differentiation of K562 cells. Int J Oncol 22:1327–1333PubMed Sakurai T, Yamada T, Kihara-Negishi F, Teramoto S, Sato Y, Izawa T, Oikawa T (2003) Effects of overexpression of the Ets family transcription factor TEL on cell growth and differentiation of K562 cells. Int J Oncol 22:1327–1333PubMed
108.
Zurück zum Zitat Bocsi J, Richter M, Hambsch J, Barten MJ, Dahnert I, Schneider P, Tárnok A (2006) Transient Th1/Th2 disbalance indicates postoperative effusions and edema after cardiopulmonary bypass in children. Cytometry A 69:165–168PubMedCrossRef Bocsi J, Richter M, Hambsch J, Barten MJ, Dahnert I, Schneider P, Tárnok A (2006) Transient Th1/Th2 disbalance indicates postoperative effusions and edema after cardiopulmonary bypass in children. Cytometry A 69:165–168PubMedCrossRef
109.
Zurück zum Zitat Triggianese P, Chimenti MS, Toubi E, Ballanti E, Guarino MD, Perricone C, Perricone R (2015) The autoimmune side of hereditary angioedema: insights on the pathogenesis. Autoimmun Rev 14:665–669PubMedCrossRef Triggianese P, Chimenti MS, Toubi E, Ballanti E, Guarino MD, Perricone C, Perricone R (2015) The autoimmune side of hereditary angioedema: insights on the pathogenesis. Autoimmun Rev 14:665–669PubMedCrossRef
110.
Zurück zum Zitat Triggianese P, Guarino MD, Ballanti E, Chimenti MS, Perricone R (2014) Hereditary angioedema and autoimmunity. Isr Med Assoc J 16:622–624PubMed Triggianese P, Guarino MD, Ballanti E, Chimenti MS, Perricone R (2014) Hereditary angioedema and autoimmunity. Isr Med Assoc J 16:622–624PubMed
111.
Zurück zum Zitat Salemi M, Mandalà V, Muggeo V, Misiano G, Milano S, Colonna-Romano G, Arcoleo F, Cillari E (2015) Growth factors and IL-17 in hereditary angioedema. Clin Exp Med Salemi M, Mandalà V, Muggeo V, Misiano G, Milano S, Colonna-Romano G, Arcoleo F, Cillari E (2015) Growth factors and IL-17 in hereditary angioedema. Clin Exp Med
112.
Zurück zum Zitat Matthews KW, Mueller-Ortiz SL, Wetsel RA (2004) Carboxypeptidase N: a pleiotropic regulator of inflammation. Mol Immunol 40:785–793PubMedCrossRef Matthews KW, Mueller-Ortiz SL, Wetsel RA (2004) Carboxypeptidase N: a pleiotropic regulator of inflammation. Mol Immunol 40:785–793PubMedCrossRef
113.
Zurück zum Zitat Mathews KP, Pan PM, Gardner NJ, Hugli TE (1980) Familial carboxypeptidase N deficiency. Ann Intern Med 93:443–445PubMedCrossRef Mathews KP, Pan PM, Gardner NJ, Hugli TE (1980) Familial carboxypeptidase N deficiency. Ann Intern Med 93:443–445PubMedCrossRef
114.
Zurück zum Zitat Mathews KP, Curd JG, Hugli TE (1986) Decreased synthesis of serum carboxypeptidase N (SCPN) in familial SCPN deficiency. J Clin Immunol 6:87–91PubMedCrossRef Mathews KP, Curd JG, Hugli TE (1986) Decreased synthesis of serum carboxypeptidase N (SCPN) in familial SCPN deficiency. J Clin Immunol 6:87–91PubMedCrossRef
115.
Zurück zum Zitat Mathews KP (1986) Deficiencies in regulator proteins 4. Anaphylatoxin inactivator. Prog Allergy 39:344–351PubMed Mathews KP (1986) Deficiencies in regulator proteins 4. Anaphylatoxin inactivator. Prog Allergy 39:344–351PubMed
116.
Zurück zum Zitat Cao H, Hegele RA (2003) DNA polymorphism and mutations in CPN1, including the genomic basis of carboxypeptidase N deficiency. J Hum Genet 48:20–22PubMedCrossRef Cao H, Hegele RA (2003) DNA polymorphism and mutations in CPN1, including the genomic basis of carboxypeptidase N deficiency. J Hum Genet 48:20–22PubMedCrossRef
117.
Zurück zum Zitat Willemse JL, Chen D, Hendriks DF (2008) Major carboxypeptidase N deficiency. Clin Chim Acta 389:181–182PubMedCrossRef Willemse JL, Chen D, Hendriks DF (2008) Major carboxypeptidase N deficiency. Clin Chim Acta 389:181–182PubMedCrossRef
118.
Zurück zum Zitat Dessart P, Defendi F, Humeau H, Nicolie B, Sarre ME, Charignon D, Ponard D, Cichon S, Drouet C, Martin L (2015) Distinct conditions support a novel classification for bradykinin-mediated angio-oedema. Dermatology 230:324–331PubMedCrossRef Dessart P, Defendi F, Humeau H, Nicolie B, Sarre ME, Charignon D, Ponard D, Cichon S, Drouet C, Martin L (2015) Distinct conditions support a novel classification for bradykinin-mediated angio-oedema. Dermatology 230:324–331PubMedCrossRef
121.
Zurück zum Zitat Perricone C, Agmon-Levin N, Shoenfeld N, de Carolis C, Guarino MD et al (2011) Evidence of impaired sense of smell in hereditary angioedema. Allergy 66:149–154PubMedCrossRef Perricone C, Agmon-Levin N, Shoenfeld N, de Carolis C, Guarino MD et al (2011) Evidence of impaired sense of smell in hereditary angioedema. Allergy 66:149–154PubMedCrossRef
122.
Zurück zum Zitat Buettner JA, Glusman G, Ben-Arie N, Ramos P, Lancet D, Evans GA (1998) Organization and evolution of olfactory receptor genes on human chromosome 11. Genomics 53:56–68PubMedCrossRef Buettner JA, Glusman G, Ben-Arie N, Ramos P, Lancet D, Evans GA (1998) Organization and evolution of olfactory receptor genes on human chromosome 11. Genomics 53:56–68PubMedCrossRef
123.
Zurück zum Zitat O’Lone R, Frith MC, Karlsson EK, Hansen U (2004) Genomic targets of nuclear estrogen receptors. Mol Endocrinol 18:1859–1875PubMedCrossRef O’Lone R, Frith MC, Karlsson EK, Hansen U (2004) Genomic targets of nuclear estrogen receptors. Mol Endocrinol 18:1859–1875PubMedCrossRef
124.
Zurück zum Zitat Farsetti A, Misiti S, Citarella F, Farsetti A, Pontecorvi A, Fantoni A (1995) Molecular basis of estrogen regulation of Hageman factor XII gene expression. Endocrinology 136:5076–5083PubMed Farsetti A, Misiti S, Citarella F, Farsetti A, Pontecorvi A, Fantoni A (1995) Molecular basis of estrogen regulation of Hageman factor XII gene expression. Endocrinology 136:5076–5083PubMed
125.
Zurück zum Zitat Bourdeau V, Deschênes J, Metivier R, Nagai Y, Nguyen D, Hudson T, White J, Gannon F, Mader S (2004) Genome-wide identification of high-affinity estrogen response elements in human and mouse. Mol Endocrinol 18:1411–1427PubMedCrossRef Bourdeau V, Deschênes J, Metivier R, Nagai Y, Nguyen D, Hudson T, White J, Gannon F, Mader S (2004) Genome-wide identification of high-affinity estrogen response elements in human and mouse. Mol Endocrinol 18:1411–1427PubMedCrossRef
126.
Zurück zum Zitat Craig TJ, Bernstein JA, Farkas H, Bouillet L, Boccon-Gibod I (2014) Diagnosis and treatment of bradykinin-mediated angioedema: outcomes from an angioedema expert consensus meeting. Int Arch Allergy Immunol 165:119–127PubMedCrossRef Craig TJ, Bernstein JA, Farkas H, Bouillet L, Boccon-Gibod I (2014) Diagnosis and treatment of bradykinin-mediated angioedema: outcomes from an angioedema expert consensus meeting. Int Arch Allergy Immunol 165:119–127PubMedCrossRef
127.
Zurück zum Zitat Weiler CR, van Dellen RG (2006) Genetic test indications and interpretations in patients with hereditary angioedema. Mayo Clin Proc 81:958–972PubMedCrossRef Weiler CR, van Dellen RG (2006) Genetic test indications and interpretations in patients with hereditary angioedema. Mayo Clin Proc 81:958–972PubMedCrossRef
128.
Zurück zum Zitat Caballero T (2013) Angio-oedema due to hereditary C1 inhibitor deficiency in children. Allergol Immunopathol (Madr) 41:45–53CrossRef Caballero T (2013) Angio-oedema due to hereditary C1 inhibitor deficiency in children. Allergol Immunopathol (Madr) 41:45–53CrossRef
129.
Zurück zum Zitat Nielsen EW, Johansen HT, Holt J, Mollnes TE (1994) C1 inhibitor and diagnosis of hereditary angioedema in newborns. Pediatr Res 35:184–187PubMedCrossRef Nielsen EW, Johansen HT, Holt J, Mollnes TE (1994) C1 inhibitor and diagnosis of hereditary angioedema in newborns. Pediatr Res 35:184–187PubMedCrossRef
130.
Zurück zum Zitat Roach B, Kim Y, Jerome E, Michael AF (1981) Influence of age and sex on serum complement components in children. Am J Dis Child 135:918–920PubMed Roach B, Kim Y, Jerome E, Michael AF (1981) Influence of age and sex on serum complement components in children. Am J Dis Child 135:918–920PubMed
131.
Zurück zum Zitat Bautista-Llácer R, Alberola TM, Vendrell X, Fernández E, Pérez-Alonso M (2010) Case report: first successful application of preimplantation genetic diagnosis for hereditary angiooedema. Reprod Biomed Online 21:658–662PubMedCrossRef Bautista-Llácer R, Alberola TM, Vendrell X, Fernández E, Pérez-Alonso M (2010) Case report: first successful application of preimplantation genetic diagnosis for hereditary angiooedema. Reprod Biomed Online 21:658–662PubMedCrossRef
Metadaten
Titel
Genetics of Hereditary Angioedema Revisited
verfasst von
Anastasios E. Germenis
Matthaios Speletas
Publikationsdatum
26.04.2016
Verlag
Springer US
Erschienen in
Clinical Reviews in Allergy & Immunology / Ausgabe 2/2016
Print ISSN: 1080-0549
Elektronische ISSN: 1559-0267
DOI
https://doi.org/10.1007/s12016-016-8543-x

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