Factor XII gene missense mutation Thr328Lys in an Arab family with hereditary angioedema type III

Allergy: European Journal of Allergy and Clinical Immunology

Volumn 66, Issue 7, 2011, Pages 981-982

  Baeza, M L ^a   Rodriguez Marco A ^a   Prieto, A ^a   Rodriguez Sainz C ^a   Zubeldia, J M ^a   Rubio, M ^a  

^a INSTITUTO DE SALUD CARLOS III   (Spain)

Author keywords

bradykinin; F12 gene mutations; hereditary angioedema

Indexed keywords

ANTIHISTAMINIC AGENT; BLOOD CLOTTING FACTOR 12; COMPLEMENT COMPONENT C3; CORTICOSTEROID; ICATIBANT; ORAL CONTRACEPTIVE AGENT;

ADULT; ANGIONEUROTIC EDEMA; ARAB; CASE REPORT; DRUG EFFICACY; DRUG SAFETY; EMERGENCY WARD; EXON; FACE EDEMA; FEMALE; GENETIC ASSOCIATION; HUMAN; MISSENSE MUTATION; MOROCCO; NOTE; PRIORITY JOURNAL; TREATMENT RESPONSE;

ADOLESCENT; ADULT; ARABS; FACTOR XII; FAMILY; FEMALE; HEREDITARY ANGIOEDEMA TYPE III; HUMANS; LYSINE; MALE; MOROCCO; MUTATION, MISSENSE; PEDIGREE; THREONINE;

EID: 79958081751     PISSN: 01054538     EISSN: 13989995     Source Type: Journal    
DOI: 10.1111/j.1398-9995.2011.02562.x     Document Type: Note

References (7)

1. Bork K, Barnstedt SE, Koch P, Traupe H,. Hereditary angioedema with normal C1-inhibitor activity in women. Lancet 2000; 356: 213-217. (Pubitemid 30446977)
2. Bowent T, Cicardi M, Farkas H, Bork K, Longshurst HJ, Zuraw B, et al., 2010 International consensus algorithm for the diagnosis, therapy and management of hereditary angioedema. Allergy Asthma Clin Immunol 2010; 6: 24.
3. Davis AE III,. The pathophysiology of hereditary angioedema. Clin Immunol 2005; 114: 3-9.
4. Cichon S, Martin L, Hennies HC, Müller F, Van Driessche K, Karpushova A, et al., Increased activity of coagulation factor XII (Hageman Factor) causes hereditary angioedema type III. Am J Hum Genet 2006; 79: 1098-1104. (Pubitemid 44853481)
5. Prieto A, Tornero P, Rubio M, Fernández-Cruz C, Rodríguez-Sainz C,. Missense mutation Thr309Lys in the coagulation factor XII gene in a Spanish family with hereditary angioedema type III. Allergy 2009; 64: 284-286.
6. Bork K, Nussberger J, Kreuz W,. Treatment of acute edema attacks in hereditary angioedema with bradykinin receptor-2 antagonist (Icatibant). J Allergy Clin Immunol 2007; 119: 1497-1503. (Pubitemid 46855846)
7. Stolz L, Horn P,. Ecallantide: a plasma kallikrein inhibitor for the treatment of acute attacks of hereditary angioedema. Drugs Today (Barc) 2010; 46: 547-555.