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References
1. Bork K, Korger G, Kreuz W. Review of long-term safety
of human pasteurized C1 inhibitor concentrate. Presented
at: Annual meeting of the American Academy of Allergy,
Asthma & Immunology, March 2-6, 2012; Orlando, FL,
United States.
J Allergy Clin Immunol.
2012;129(2):AB222.
2. Quincke H. Concerning the acute localized oedema of the
skin [in German].
Monatshe Prakt Dermatol.
1882;1:129-
132.
3. Osler W. Hereditary angio-neurotic oedema.
Am J Med
Sci.
1888;95:362-367.
4. Donaldson VH, Evans RR. A biochemical abnormality
in hereditary angioneurotic edema: absence of serum
inhibitor of C’1-esterase.
Am J Med.
1963;35:37-44.
5. 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:S51-S131.
6. Weiler CR, Van Dellen RG. Genetic test indications and
interpretations in patients with hereditary angioedema.
Mayo Clin Proc.
2006;81:958-972.
7. Davis AE III. New treatments addressing the patho-
physiology of hereditary angioedema.
Clin Mol Allergy.
2008;6:2.
8. Gompels MM, Lock RJ, Abinun M, et al. C1 inhibitor
deficiency: consensus document.
Clin Exp Immunol.
2005;139:379-394.
9. Craig TJ. Appraisal of danazol prophylaxis for hereditary
angioedema.
Allergy Asthma Proc.
2008;29:225-231.
10. Frank MM. Hereditary angioedema: the clinical syndrome
and its management in the United States.
Immunol Allergy
Clin N Am.
2006;26:653-668.
11. 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(1):24.
12. Han ED, MacFarlane RC, Mulligan AN, et al. Increased
vascular permeability in C1 inhibitor-deficient mice
mediated by the bradykinin type 2 receptor.
J Clin Invest.
2002;109:1057-1063.
13. Drouet C, Cicardi M, Pappalardo E, et al. New mutations
of C1-inhibitor (SERPING1/C1NH) gene associated
with hereditary angioedema in a European population.
J Allergy Clin Immunol.
2007;119:S277.
14. Bock SC, Skriver K, Nielsen E, et al. Human C1 inhibitor:
primary structure cDNA cloning, and chromosomal
localization.
Biochemistry.
1986;25:4292-4301.
15. Statistics of the HAEdb, C1 inhibitor gene mutation
database. Available at:
.
Accessed May 13, 2013.
16. Pappalardo E, Cicardi M, Duponchel C, et al. Frequent
de
novo
mutations and exon deletions in the C1 inhibitor
gene of patients with angioedema.
J Allergy Clin Immunol.
2000;106:1147-1154.
17. Fay A, Abinun M. Current management of hereditary
angio-oedema (C’1 esterase inhibitor deficiency).
J Clin
Pathol.
2002;55:266-270.
18. Rosen FS, Pensky J, Donaldson V, et al. Hereditary angio-
neurotic edema: two genetic variants.
Science.
1965;
148:957-958.
19. Roche O, Blanch A, Caballero T, et al. Hereditary
angioedema due to C1 inhibitor deficiency: patient
registry and approach to the prevalence in Spain.
Ann
Allergy Asthma Immunol.
2005;94:498-503.
20. Mallbris L, Nordenfelt P, Björkander J, et al. The
establishment and utility of Sweha-Reg: a Swedish
population-based registry to understand hereditary
angioedema.
BMC Dermatol.
2007;7:6.
21. Bygum A. Hereditary angio-oedema in Denmark: a
nationwide survey.
Br J Dermatol.
2009;161(5):1153-
1158.
22. Bouillet L, Longhurst H, Boccon-Gibod I, et al. Disease
expression in women with hereditary angioedema.
Am J
Obstet Gynecol.
2008;199:484.e1-484.e4.
23. Cicardi M. The concept of European patient registry for
hereditary angioedema. Presented at: Development of
a Complex Communication System Between the Actors
Involved into the Management of Rare Diseases in
Romania and in Europe; February 22, 2008; Tirgu-Mures,
Romania.
24. 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.
25. Frigas E, Nzeako UC. Angioedema: pathogenesis,
differential diagnosis, and treatment.
Clin Rev Allergy
Immunol.
2002;23:217-232.