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Hereditary angioedema caused by missense mutations in the factor XII gene: Clinical features, trigger factors, and therapy

Bork, Konrad, Wulff, Karin, Hardt, Jochen, Witzke, Günther, Staubach, Petra·2009·Journal of Allergy and Clinical Immunology

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Research works printed but not linked: 28

  1. Quincke, 1882, Über akutes umschriebenes Hautödem, Monatsh Prakt Dermatol, 1, 129
  2. Osler, 1888, Hereditary angioneurotic edema, Am J Med Sci, 95, 362, 10.1097/00000441-188804000-00004 · DOI · Paper page
  3. Donaldson, 1963, A biochemical abnormality in hereditary angioneurotic edema: absence of serum inhibitor of C1-esterase, Am J Med, 35, 37, 10.1016/0002-9343(63)90162-1 · DOI · Paper page
  4. Bork, 2000, Hereditary angioedema with normal C1-inhibitor activity in women, Lancet, 356, 213, 10.1016/S0140-6736(00)02483-1 · DOI · Paper page
  5. Martin, 2001, Hereditary angioedema type III: an additional French pedigree with autosomal dominant transmission, J Allergy Clin Immunol, 107, 747, 10.1067/mai.2001.114242 · doi:10.1067/mai.2001.114242
  6. Bork, 2003, Recurrent episodes of skin angioedema and severe attacks of abdominal pain induced by oral contraceptives or hormone replacement therapy, Am J Med, 114, 294, 10.1016/S0002-9343(02)01526-7 · DOI · Paper page
  7. Binkley, 2000, Clinical, biochemical, and genetic characterization of a novel estrogen-dependent inherited form of angioedema, J Allergy Clin Immunol, 106, 546, 10.1067/mai.2000.108106 · DOI · Paper page
  8. Herrmann, 2004, Efficacy of danazol treatment in a patient with the new variant of hereditary angio-oedema (HAE III), Br J Dermatol, 150, 157, 10.1111/j.1365-2133.2004.05669.x · doi:10.1111/j.1365-2133.2004.05669.x
  9. Bouillet, 2007, A case of hereditary angio-oedema type III presenting with C1-inhibitor cleavage and a missense mutation in the F12 gene, Br J Dermatol, 156, 1063, 10.1111/j.1365-2133.2007.07778.x · DOI
  10. Fiz Matias, 2007, Analgesia obstetrica en un caso de edema angioneurotico hereditario tipo III, Rev Esp Anestesiol Reanim, 54, 253
  11. Serrano, 2008, Oestrogen-dependent hereditary angio-oedema with normal C1 inhibitor: description of six new cases and review of pathogenic mechanisms and treatment, Allergy, 63, 735, 10.1111/j.1398-9995.2007.01579.x · DOI
  12. Bork, 2006, Hereditary angio-oedema with normal C1 inhibitor in a family with affected women and men, Br J Dermatol, 154, 542, 10.1111/j.1365-2133.2005.07048.x · DOI
  13. Bork, 2007, Hereditary angioedema with normal C1 inhibitor: clinical symptoms and course, Am J Med, 120, 987, 10.1016/j.amjmed.2007.08.021 · DOI
  14. Martin, 2007, 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, 120, 975, 10.1016/j.jaci.2007.07.002 · doi:10.1016/j.jaci.2007.07.002
  15. Dewald, 2006, Missense mutations in the coagulation factor XII (Hageman factor) gene in hereditary angioedema with normal C1 inhibitor, Biochem Biophys Res Commun, 343, 1286, 10.1016/j.bbrc.2006.03.092 · DOI · Paper page
  16. Cichon, 2006, Increased activity of coagulation factor XII (Hageman factor) causes hereditary angioedema type III, Am J Hum Genet, 79, 1098, 10.1086/509899 · DOI · Paper page
  17. Bell, 2008, First molecular confirmation of an Australian case of type III hereditary angioedema, Pathology, 40, 82, 10.1080/00313020701716433 · doi:10.1080/00313020701716433
  18. Bork, 2006, Hereditary angioedema: new findings concerning symptoms, affected organs, and course, Am J Med, 119, 267, 10.1016/j.amjmed.2005.09.064 · DOI · Paper page
  19. Agostoni, 1992, Hereditary and acquired C1-inhibitor deficiency: biological and clinical characteristics in 235 patients, Medicine (Baltimore), 71, 206, 10.1097/00005792-199207000-00003 · DOI · Paper page
  20. Binkley, 2001, Reply (Hereditary angioedema type III: an additional French pedigree with autosomal dominant transmission), J Allergy Clin Immunol, 107, 747, 10.1067/mai.2001.114243 · doi:10.1067/mai.2001.114243
  21. Han, 2002, Increased vascular permeability in C1 inhibitor-deficient mice mediated by the bradykinin type 2 receptor, J Clin Invest, 109, 1057, 10.1172/JCI200214211 · DOI
  22. Bork, 2007, Treatment of acute edema attacks in hereditary angioedema with a bradykinin receptor-2 antagonist (Icatibant), J Allergy Clin Immunol, 119, 1497, 10.1016/j.jaci.2007.02.012 · DOI
  23. Davis, 2008, Hereditary angioedema: a current state-of-the-art review, III: mechanisms of hereditary angioedema, Ann Allergy Asthma Immunol, 100, S7, 10.1016/S1081-1206(10)60580-7 · DOI
  24. Bork K, Kleist R, Hardt J, Witzke G. Kallikrein–kinin system and fibrinolysis in hereditary angioedema due to the factor XII gene mutation Thr309Lys. Blood Coagul Fibrinolysis. In press 2009. · DOI
  25. Cugno, 2009, Plasma biomarkers of acute attacks in patients with angioedema due to C1-inhibitor deficiency, Allergy, 64, 254, 10.1111/j.1398-9995.2008.01859.x · DOI
  26. Bas, 2008, Potential role of vasomotor effects of fibrinogen in bradykinin-induced angioedema, J Allergy Clin Immunol, 121, 969, 10.1016/j.jaci.2008.01.071 · DOI
  27. Amar, 2004, Hereditary angio-oedema: effective treatment with the progestogen-only pill in a young woman, Br J Dermatol, 151, 713, 10.1111/j.1365-2133.2004.06152.x · DOI
  28. Bork, 2008, Benefits and risks of danazol in hereditary angioedema: a long-term survey of 118 patients, Ann Allergy Asthma Immunol, 100, 153, 10.1016/S1081-1206(10)60424-3 · DOI · Paper page

Cited by

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Metadata

Authors
Bork, K., Wulff, K., Hardt, J., Witzke, G., & Staubach, P.
Venue
Journal of Allergy and Clinical Immunology
Publisher
Elsevier BV
Published
2009-07
Volume
124
Issue
1
Pages
129-134
ISSN
0091-6749 (ISSN-L)
OpenAlex
W2128921599
Cited by
205
References
1
FWCI
7.96
Type
journal article
Language
en
Open access
closed
Licence
  • www.elsevier.com/tdm/userlicense/1.0/ (tdm)
  • www.elsevier.com/legal/tdmrep-license (tdm)

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CoChat. (2026). Citation check: Hereditary angioedema caused by missense mutations in the factor XII gene: Clinical features, trigger factors, and therapy. https://app.cochat.ai/papers/10.1016/j.jaci.2009.03.038
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Bork, K., Wulff, K., Hardt, J., Witzke, G., & Staubach, P. (2009). Hereditary angioedema caused by missense mutations in the factor XII gene: Clinical features, trigger factors, and therapy. Journal of Allergy and Clinical Immunology. https://doi.org/10.1016/j.jaci.2009.03.038

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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).

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