scholarly journals Defective glycosylation of coagulation factor XII underlies hereditary angioedema type III

2015 ◽  
Vol 125 (8) ◽  
pp. 3132-3146 ◽  
Author(s):  
Jenny Björkqvist ◽  
Steven de Maat ◽  
Urs Lewandrowski ◽  
Antonio Di Gennaro ◽  
Chris Oschatz ◽  
...  
Keyword(s):  
Hereditary Angioedema ◽  
Coagulation Factor ◽  
Factor Xii ◽  
Type Iii

scholarly journals Increased Activity of Coagulation Factor XII (Hageman Factor) Causes Hereditary Angioedema Type III

2006 ◽  
Vol 79 (6) ◽  
pp. 1098-1104 ◽  
Author(s):  
Sven Cichon ◽  
Ludovic Martin ◽  
Hans Christian Hennies ◽  
Felicitas Müller ◽  
Karen Van Driessche ◽  
...  
Keyword(s):  
Hereditary Angioedema ◽  
Coagulation Factor ◽  
Factor Xii ◽  
Hageman Factor ◽  
Type Iii ◽  
Increased Activity

Missense mutation Thr309Lys in the coagulation factor XII gene in a Spanish family with hereditary angioedema type III

Allergy ◽  
2009 ◽  
Vol 64 (2) ◽  
pp. 284-286 ◽  
Author(s):  
A. Prieto ◽  
P. Tornero ◽  
M. Rubio ◽  
E. Fernández-Cruz ◽  
C. Rodriguez-Sainz
Keyword(s):  
Missense Mutation ◽  
Hereditary Angioedema ◽  
Coagulation Factor ◽  
Factor Xii ◽  
Type Iii ◽  
Spanish Family

scholarly journals Diagnosis of hereditary Angioedema by genetic mutation of coagulation factor XII

2021 ◽  
Vol 147 (2) ◽  
pp. AB23
Author(s):  
Natasha Ferraroni ◽  
Gabriela Yoshimoto ◽  
Camila Veronez ◽  
Luiza Silva ◽  
Marina Batista ◽  
...  
Keyword(s):  
Hereditary Angioedema ◽  
Coagulation Factor ◽  
Genetic Mutation ◽  
Factor Xii

Missense Mutations in the Proline-Rich Region of Coagulation Factor XII in Hereditary and Idiopathic Angioedema.

Blood ◽  
2006 ◽  
Vol 108 (11) ◽  
pp. 1619-1619
Author(s):  
Georg Dewald ◽  
Konrad Bork
Keyword(s):  
Hereditary Angioedema ◽  
Coagulation Factor ◽  
Factor Xii ◽  
Missense Mutations ◽  
C1 Inhibitor ◽  
Rich Region ◽  
Female Patients ◽  
Exon 9 ◽  
Idiopathic Angioedema ◽  
Proline Rich Region

Abstract Hereditary angioedema (HAE) is characterized by recurrent skin swelling, abdominal pain attacks, and potentially life-threatening upper airway obstruction. The two classic HAE types (I and II) are caused by mutations in the complement C1 inhibitor gene, resulting in a functional deficiency of C1 inhibitor. Recently, a novel type of hereditary angioedema has been described, these patients showing normal C1 inhibitor concentration and activity in plasma (HAE with normal C1 inhibitor, HAE type III). With few exceptions, all reported patients have been women, and exposition to estrogens appears to be an important precipitating factor. Screening of twenty unrelated female patients with this new type of HAE for mutations in the coagulation factor XII gene revealed two different missense mutations, both located in exactly the same position within exon 9, namely in the second position of the codon (ACG) encoding Thr309 of the mature protein. Five patients showed a C→A transversion (1032C→A), predicting a threonine-to-lysine substitution (Thr309Lys); one additional patient showed a C→G transversion (1032C→G), resulting in a threonine-to-arginine substitution (Thr309Arg). Thus, in 6 of 20 unrelated patients the wild-type threonine residue is substituted by a basic amino acid residue. The mutations are located in the proline-rich region of factor XII which may play some role in the binding of factor XII to negatively charged surfaces, and, thus, may eventually influence mechanisms of contact activation. The predicted structural and functional impact of the mutations, their absence in healthy control individuals (n=145), and their co-segregation with the phenotype in five families with altogether 20 affected women provide strong support that they cause disease (Biochem. Biophys. Res. Commun.343: 1286–1289, 2006). We speculated if these mutations may also be present in singular angioedema cases, i.e., patients with no affected family members. We therefore studied 58 such patients with idiopathic recurrent angioedema (23 men, 35 women) by sequencing of exon 9 of the F12 gene. In two patients, both female, the 1032C→A (Thr309Lys) mutation was observed. Thus, this mutation may also play a role in a subgroup of patients with idiopathic angioedema, in particular in female patients. The known estrogen-dependent regulation of factor XII expression may well be seen in association with the disease manifestation mainly in women.

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

Allergy ◽  
2011 ◽  
Vol 66 (7) ◽  
pp. 981-982 ◽  
Author(s):  
M. L. Baeza ◽  
A. Rodríguez-Marco ◽  
A. Prieto ◽  
C. Rodríguez-Sainz ◽  
J. M. Zubeldia ◽  
...  
Keyword(s):  
Missense Mutation ◽  
Hereditary Angioedema ◽  
Factor Xii ◽  
Type Iii

Type III Hereditary Angioedema: First Description of a Mutation in Factor XII Gene and Clinical Features in a Brazilian Family

2012 ◽  
Vol 129 (2) ◽  
pp. AB82
Author(s):  
A.S. Moreno ◽  
S.O.R. Valle ◽  
A.T. Franca ◽  
S.A. Levy ◽  
D. Ponard ◽  
...  
Keyword(s):  
Clinical Features ◽  
Hereditary Angioedema ◽  
Factor Xii ◽  
Type Iii

Hereditary Angioedema Type III: Mutation in Factor XII Gene in Brazilian Families

2013 ◽  
Vol 131 (2) ◽  
pp. AB57
Author(s):  
Adriana S. Moreno ◽  
Solange Valle ◽  
Alfeu França ◽  
Soloni Levy ◽  
Wagner Campos ◽  
...  
Keyword(s):  
Hereditary Angioedema ◽  
Factor Xii ◽  
Type Iii

scholarly journals Pathophysiology of Hereditary Angioedema

2011 ◽  
Vol 25 (6) ◽  
pp. 373-378 ◽  
Author(s):  
Bruce L. Zuraw ◽  
Sandra C. Christiansen
Keyword(s):  
Hereditary Angioedema ◽  
Clinical Characteristics ◽  
Ace Inhibitor ◽  
Vascular Endothelial Cells ◽  
Type I ◽  
Factor Xii ◽  
Type Iii ◽  
C1inh Deficiency ◽  
Serping1 Gene ◽  
High Index Of Suspicion

Background Laryngeal angioedema may be associated with significant morbidity and even mortality. Because of the potential severity of attacks, both allergists and otolaryngologists must be knowledgeable about the recognition and treatment of laryngeal angioedema. This study describes the clinical characteristics and pathophysiology of bradykinin-mediated angioedema. Methods A literature review was conducted concerning the clinical characteristics and pathophysiology of types I and II hereditary angioedema (HAE), type III HAE, acquired C1 inhibitor (C1INH) deficiency, and angiotensin-converting enzyme (ACE) inhibitor–associated angioedema. Results The diagnosis of type I/II HAE is relatively straightforward as long as the clinician maintains a high index of suspicion. Mutations in the SERPING1 gene result in decreased secretion of functional C1INH and episodic activation of plasma kallikrein and Hageman factor (FXII) of the plasma contact system with cleavage of high molecular weight kininogen and generation of bradykinin. In contrast, there are no unequivocal criteria for making a diagnosis of type III HAE, although a minority of these patients may have a mutation in the factor XII gene. Angioedema attacks and mediator of swelling in acquired C1INH deficiency are similar to those in type I or II HAE; however, it occurs on a sporadic basis because of excessive consumption of C1INH in patients who are middle aged or older. ACE inhibitor–associated angioedema should always be considered in any patient taking an ACE inhibitor who experiences angioedema. ACE is a kininase, which when inhibited is thought to result in increased bradykinin levels. Bradykinin acts on vascular endothelial cells to enhance vascular permeability. Conclusion Laryngeal swelling is not infrequently encountered in bradykinin-mediated angioedema. Novel therapies are becoming available that for the first time provide effective treatment for bradykinin-mediated angioedema. Because the characteristics and treatment of these angioedemas are quite distinct from each other and from histamine-mediated angioedema, it is crucial that the physician be able to recognize and distinguish these swelling disorders.

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