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Original Article

Hereditary angioedema due to C1-inhibitor deficiency in Macedonia: clinical characteristics, novel SERPING1 mutations and genetic factors modifying the clinical phenotype

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Pages 269-276 | Received 13 Nov 2017, Accepted 05 Mar 2018, Published online: 15 Mar 2018

References

  • Agostoni A, Aygören-Pürsün E, Binkley KE, et al. Hereditary and acquired angioedema: problems and progress: proceedings of the third C1 esterase inhibitor deficiency workshop and beyond. J Allergy Clin Immunol. 2004;114(3suppl):51–131.
  • Zuraw B. Clinical practice. Hereditary angioedema. N Engl J Med. 2008;359:1027.
  • Wu MA, Perego F, Zanichelli A, et al. Angioedema phenotypes: disease expression and classification. Clin Rev Allergy Immunol. 2016;51:162–169.
  • Cicardi M, Aberer W, Banerji A, et al. Classification, diagnosis, and approach to treatment for angioedema: consensus report from the Hereditary Angioedema International Working Group. Allergy. 2014;69:602–616.
  • Carter PE, Duponchel C, Tosi M, et al. Complete nucleotide sequence of the gene for human C1 inhibitor with an unusually high density of Alu elements. Eur J Biochem. 1991;197:301–308.
  • Germenis AE, Speletas M. Genetics of hereditary angioedema revisited. Clin Rev Allergy Immunol. 2016;51:170–182.
  • Kalmar L, Hegedus T, Farkas H, et al. HAEdb: a novel interactive, locus-specific mutation database for the C1 inhibitor gene. Hum Mutat. 2005;25:1–5.
  • Bork K, Wulff K, Hardt J, et al. Hereditary angioedema caused by missense mutations in the factor XII gene: Clinical features, trigger factors, and therapy. J Allergy Clin Immunol. 2009;124:129–134.
  • Bafunno V, Firinu D, Apolito MD, et al. Mutation of angiopoietin-1 gene associates with a new type of hereditary angioedema. J Allergy Clin Immunol. 2018;141:1009–1017.
  • Bork K, Wulff K, Steinmüller-Magin L, et al. Hereditary angioedema with a mutation in the plasminogen gene. Allergy. 2018;73:442–450.
  • Bork K, Wulff K, Witzke G, et al. Hereditary angioedema with normal C1-INH with versus without specific F12 gene mutations. Allergy Eur J Allergy Clin Immunol. 2015;70:1004–1012.
  • Rijavec M, Korošec P, Šilar M, et al. Hereditary angioedema nationwide study in Slovenia reveals four novel mutations in SERPING1 gene. PLoS One. 2013;8:e56712.
  • Andrejević S, Korošec P, Šilar M, et al. Hereditary angioedema due to C1 inhibitor deficiency in Serbia: two novel mutations and evidence of genotype-phenotype association. PLoS One. 2015;10:1–11.
  • Karadža-Lapić L, Korošec P, Šilar M, et al. Frequent life-threatening laryngeal attacks in two Croatian families with hereditary angioedema due to C1 inhibitor deficiency harbouring a novel frameshift mutation in SERPING1. Ann Med. 2016;48:485–491.
  • Speletas M, Szilagyi Csuka D, et al. F12-46C/T polymorphism as modifier of the clinical phenotype of hereditary angioedema. Allergy. 2015;70:1661–1664.
  • Gianni P, Loules G, Zamanakou M, et al. Genetic determinants of C1 inhibitor deficiency angioedema age of onset. Int Arch Allergy Immunol. 2017;174:200–204.
  • Bors A, Csuka D, Varga L, et al. Less severe clinical manifestations in patients with hereditary angioedema with missense C1INH gene mutations. J Allergy Clin Immunol. 2013;131:1708–1711.
  • Bygum A. Hereditary angio-oedema in Denmark: a nationwide survey. Br J Dermatol. 2009;161:1153–1158.
  • Martinho A, Mendes J, Simões O, et al. Mutations analysis of C1 inhibitor coding sequence gene among Portuguese patients with hereditary angioedema. Mol Immunol. 2013;53:431–434.
  • Verpy E, Biasotto M, Brai M, et al. Exhaustive mutation scanning by fluorescence-assisted mismatch analysis discloses new genotype-phenotype correlations in angiodema. Am J Hum Genet. 1996;59:308–319.
  • López-Lera A, Garrido S, Roche O, et al. SERPING1 mutations in 59 families with hereditary angioedema. Mol Immunol. 2011;49:18–27.
  • Bygum A, Fagerberg CR, Ponard D, et al. Mutational spectrum and phenotypes in Danish families with hereditary angioedema because of C1 inhibitor deficiency. Allergy Eur J Allergy Clin Immunol. 2011;66:76–84.
  • Zanichelli A, Arcoleo F, Barca M, et al. A nationwide survey of hereditary angioedema due to C1 inhibitor deficiency in Italy. Orphanet J Rare Dis. 2015;10:11.
  • Speletas M, Szilagyi A, Psarros F, et al. Hereditary angioedema: molecular and clinical differences among European populations. J Allergy Clin Immunol. 2015;135:570–573.
  • Stray-Pedersen A, Abrahamsen TG, Froland SS. Primary immunodeficiency diseases in Norway. J Clin Immunol. 2000;20:477–485.
  • Nordenfelt P, Nilsson M, Björkander J, et al. Hereditary angioedema in Swedish adults: report From the national cohort. Acta Derm Venereol. 2016;96:540–545.
  • Steiner UC, Weber-Chrysochoou C, Helbling A, et al. Hereditary angioedema due to C1 - inhibitor deficiency in Switzerland: clinical characteristics and therapeutic modalities within a cohort study. Orphanet J Rare Dis. 2016;11:43.
  • Roche O, Blanch A, Duponchel C, et al. Hereditary angioedema: the mutation spectrum of SERPING1/C1NH in a large Spanish cohort. Hum Mutat. 2005;26:135–144.
  • Bowen T, Cicardi M, Farkas H, et al. 2010 International consensus algorithm for the diagnosis, therapy and management of hereditary angioedema. Allergy Asthma Clin Immunol. 2010;6:24.
  • Zanichelli A, Magerl M, Longhurst H, et al. Hereditary angioedema with C1 inhibitor deficiency: delay in diagnosis in Europe. Allergy Asthma Clin Immunol. 2013;9:29.
  • Bissler JJ, Cicardi M, Donaldson VH, et al. A cluster of mutations within a short triplet repeat in the C1 inhibitor gene. Proc Natl Acad Sci USA. 1994;91:9622–9625.
  • Verpy E, Couture-Tosi E, Eldering E, et al. Crucial residues in the carboxy-terminal end of C1 inhibitor revealed by pathogenic mutants impaired in secretion or function. J Clin Invest. 1995;95:350–359.
  • Xu YY, Zhi YX, Yin J, et al. Mutational spectrum and geno-phenotype correlation in Chinese families with Hereditary Angioedema. Allergy Eur J Allergy Clin Immunol. 2012;67:1430–1436.
  • Bafunno V, Bova M, Loffredo S, et al. Mutational spectrum of the C1 inhibitor gene in a cohort of italian patients with hereditary angioedema: description of nine novel mutations. Ann Hum Genet. 2014;78:73–82.
  • Maia LSM, Ferriani MPL, Nunes FL, et al. Genotype-phenotype correlations in patients with hereditary angioedema. J Allergy Clin Immunol. 2017;139:AB383.

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