Novel duplication in the F12 gene in a patient with recurrent angioedema

Clinical Immunology

Volumn 149, Issue 1, 2013, Pages 142-145

  Kiss, Nóra ^a   Barabás, Eszter ^b   Várnai, Katalin ^b   Halász, Adrien ^c   Varga, Lilian Ágnes ^a   Prohászka, Zoltán ^a   Farkas, Henriette ^a   Szilágyi, Ágnes ^a  

^a SEMMELWEIS UNIVERSITY OF MEDICINE   (Hungary)

^b SEMMELWEIS UNIVERSITY   (Hungary)

^c Flor Ferenc Hospital   (Hungary)

Author keywords

Angioedema; Factor XII; Mutation

Indexed keywords

ANTIHISTAMINIC AGENT; BLOOD CLOTTING FACTOR 12; COMPLEMENT COMPONENT C1S INHIBITOR; CORTICOSTEROID; GLUCONATE CALCIUM; COMPLEMENT COMPONENT C4;

ABDOMINAL PAIN; ADULT; ANGIONEUROTIC EDEMA; ARTICLE; BASE PAIRING; CASE REPORT; CAUCASIAN; CESAREAN SECTION; DYSPNEA; ERYTHEMA; FACE EDEMA; FEMALE; GENE; GENE DUPLICATION; GENE MUTATION; HUMAN; NAUSEA; POLLEN ALLERGY; PRIORITY JOURNAL; PRURITUS; RECURRENT DISEASE; REMISSION; SWELLING; BLOOD; GENETICS; MUTATION;

ANGIOEDEMA; FACTOR XII; MUTATION;

ADULT; ANGIOEDEMA; COMPLEMENT C1 INHIBITOR PROTEIN; COMPLEMENT C4; FACTOR XII; FEMALE; HUMANS; MUTATION; RECURRENCE;

EID: 84884374545     PISSN: 15216616     EISSN: 15217035     Source Type: Journal    
DOI: 10.1016/j.clim.2013.08.001     Document Type: Article

References (19)

1. Kaplan A.P., Greaves M.W. Angioedema. J. Am. Acad. Dermatol. 2005, 53:373-388. (quiz 389-392).
2. Lang D.M., Aberer W., Bernstein J.A., Chng H.H., Grumach A.S., Hide M., Maurer M., Weber R., Zuraw B. International consensus on hereditary and acquired angioedema. Ann. Allergy Asthma Immunol. 2012, 109:395-402.
3. Rosen F.S., Alper C.A., Pensky J., Klemperer M.R., Donaldson V.H. Genetically determined heterogeneity of the C1 esterase inhibitor in patients with hereditary angioneurotic edema. J. Clin. Invest. 1971, 50:2143-2149.
4. Stoppa-Lyonnet D., Tosi M., Laurent J., Sobel A., Lagrue G., Meo T. Altered C1 inhibitor genes in type I hereditary angioedema. N. Engl. J. Med. 1987, 317:1-6.
5. 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.
6. 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.
7. Dewald G. Methods and Kits to Detect Hereditary Angioedema Type III 2010, (United States).
8. Bork K., Barnstedt S.E., Koch P., Traupe H. Hereditary angioedema with normal C1-inhibitor activity in women. Lancet 2000, 356:213-217.
9. Binkley K.E., Davis A. Clinical, biochemical, and genetic characterization of a novel estrogen-dependent inherited form of angioedema. J. Allergy Clin. Immunol. 2000, 106:546-550.
10. Bork K., Gul D., Hardt J., Dewald G. Hereditary angioedema with normal C1 inhibitor: clinical symptoms and course. Am. J. Med. 2007, 120:987-992.
11. Vitrat-Hincky V., Gompel A., Dumestre-Perard C., Boccon-Gibod I., Drouet C., Cesbron J.Y., Lunardi J., Massot C., Bouillet L. Type III hereditary angio-oedema: clinical and biological features in a French cohort. Allergy 2010, 65:1331-1336.
12. Cichon S., Martin L., Hennies H.C., Muller F., Van Driessche K., Karpushova A., Stevens W., Colombo R., Renne T., Drouet C., Bork K., Nothen M.M. Increased activity of coagulation factor XII (Hageman factor) causes hereditary angioedema type III. Am. J. Hum. Genet. 2006, 79:1098-1104.
13. Serrano C., Guilarte M., Tella R., Dalmau G., Bartra J., Gaig P., Cerda M., Cardona V., Valero A. Oestrogen-dependent hereditary angio-oedema with normal C1 inhibitor: description of six new cases and review of pathogenic mechanisms and treatment. Allergy 2008, 63:735-741.
14. Bork K., Wulff K., Hardt J., Witzke G., Staubach P. 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.
15. Martin L., Raison-Peyron N., Nothen M.M., 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.
16. Marcos C., Lopez Lera A., Varela S., Linares T., Alvarez-Eire M.G., Lopez-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. .e2.
17. Gupta S., Yu F., Klaustermeyer W.B. New-variant hereditary angioedema in three brothers with normal C1 esterase inhibitor level and function. Allergy 2004, 59:557-558.
18. Bork K., Gul D., Dewald G. Hereditary angio-oedema with normal C1 inhibitor in a family with affected women and men. Br. J. Dermatol. 2006, 154:542-545.
19. Oschatz C., Maas C., Lecher B., Jansen T., Bjorkqvist J., Tradler T., Sedlmeier R., Burfeind P., Cichon S., Hammerschmidt S., Muller-Esterl W., Wuillemin W.A., Nilsson G., Renne T. Mast cells increase vascular permeability by heparin-initiated bradykinin formation in vivo. Immunity 2011, 34:258-268.