Mostrar el registro sencillo del ítem
First case of homozygous C1 inhibitor deficiency
dc.contributor.author | Blanch, Alvaro | |
dc.contributor.author | Roche, Olga | |
dc.contributor.author | Urrutia, Ignacio | |
dc.contributor.author | Gamboa, Pedro | |
dc.contributor.author | Fontán, Gumersindo | |
dc.contributor.author | López-Trascasa, Margarita | |
dc.date.accessioned | 2024-02-01T17:35:05Z | |
dc.date.available | 2024-02-01T17:35:05Z | |
dc.date.issued | 2006 | |
dc.identifier.citation | Blanch, A., Roche, O., Urrutia, I., Gamboa, P., Fontan, G., & Lopeztrascasa, M. (2006). First case of homozygous C1 inhibitor deficiency. Journal of Allergy and Clinical Immunology, 118(6), 1330-1335. https://doi.org/10.1016/j.jaci.2006.07.035 | es |
dc.identifier.issn | 0091-6749 | |
dc.identifier.uri | http://hdl.handle.net/20.500.12020/1140 | |
dc.description.abstract | Background: C1 Inhibitor (C1-Inh) deficiency causes angioedema and can be hereditary (HAE), caused by mutations in the C1-Inh gene (C1NH), or acquired (AAE). Patients with HAE show a complement profile different from that of patients with AAE with normal levels of C1 (C1q, C1r, and C1s). Objective: We sought to characterize the complement profile of a patient with HAE and a mutation in homozygosis in the C1NH gene (c.1576T>G, Ile462Ser) and study his family. Methods: Biochemical diagnosis of HAE was confirmed by analyzing the C1NH gene. Further studies on the levels and activation states of the C1q, C1r, C1s, and C1-Inh components of the classical pathway of complement activation were also performed. Results: Another 7 members of the family were given diagnoses of HAE: 1 was homozygous and 6 were heterozygous for the C1NH mutation c.1576T>G. The homozygous patients showed undetectable C1q levels, reduced C1s levels, the circulating active form of C1r, and a C1-Inh mostly in its cleaved inactive form in plasma. Conclusion: This is the first report of patients homozygous for a mutation affecting the coding region of C1NH. These patients showed a unique activation and consumption profile of the classical complement activation pathway different from that commonly observed in patients with HAE but similar to that of patients with AAE. Clinical implications: The most common HAE treatment is attenuated androgens, which increase the C1NH gene transcription levels. Because the homozygous patients lack a wild-type allele, long-term prophylactic treatment with attenuated androgens might not be advisable. | es |
dc.language.iso | en | es |
dc.publisher | Elsevier | es |
dc.title | First case of homozygous C1 inhibitor deficiency | es |
dc.type | article | es |
dc.identifier.doi | https://doi.org/10.1016/j.jaci.2006.07.035 | |
dc.issue.number | 6 | es |
dc.journal.title | Journal of Allergy and Clinical Immunology | es |
dc.page.initial | 1330 | es |
dc.page.final | 1335 | es |
dc.rights.accessRights | embargoedAccess | es |
dc.subject.area | Ciencias Biomédicas | es |
dc.subject.keyword | Hereditary Angioedema | es |
dc.subject.keyword | C1 Inhibitor | es |
dc.subject.keyword | Classical Complement Activation Pathway | es |
dc.subject.keyword | Homozygous C1NH Mutation | es |
dc.subject.keyword | Serine Protease Inhibitor | es |
dc.subject.unesco | 32 Ciencias Médicas | es |
dc.subject.unesco | 24 Ciencias de la Vida | es |
dc.volume.number | 118 | es |
Ficheros en el ítem
Fichero/s | Tamaño | Formato | Ver |
---|---|---|---|
No hay ficheros asociados a este ítem. |