The genetic deficiency of the C1 inhibitor is responsible for hereditary angioedema (HAE), which is a disease transmitted as an autosomal dominant trait. More than 200 point mutations in the C1 inhibitor gene have been found to be associated with HAE. Patients with this disease suffer from recurrent angioedema, which is mediated by bradykinin derived from activation of the contact system. This system is physiologically controlled at several steps by the C1 inhibitor. In this review, we describe known mechanisms for the development of angioedema in patients with C1 inhibitor deficiency.

Pathophysiology of hereditary angioedema / S. Caccia, C. Suffritti, M. Cicardi. - In: PEDIATRIC ALLERGY, IMMUNOLOGY, AND PULMONOLOGY. - ISSN 2151-321X. - 27:4(2014 Dec 01), pp. 159-163.

Pathophysiology of hereditary angioedema

S. Caccia
Primo
;
C. Suffritti
Secondo
;
M. Cicardi
Ultimo
2014

Abstract

The genetic deficiency of the C1 inhibitor is responsible for hereditary angioedema (HAE), which is a disease transmitted as an autosomal dominant trait. More than 200 point mutations in the C1 inhibitor gene have been found to be associated with HAE. Patients with this disease suffer from recurrent angioedema, which is mediated by bradykinin derived from activation of the contact system. This system is physiologically controlled at several steps by the C1 inhibitor. In this review, we describe known mechanisms for the development of angioedema in patients with C1 inhibitor deficiency.
Immunology and Allergy; Pediatrics, Perinatology and Child Health; Pulmonary and Respiratory Medicine
Settore BIO/11 - Biologia Molecolare
Settore MED/09 - Medicina Interna
1-dic-2014
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2434/340677
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