Identificador persistente para citar o vincular este elemento:
http://hdl.handle.net/10553/48612
Campo DC | Valor | idioma |
---|---|---|
dc.contributor.author | Martínez De Saavedra Álvarez, María Teresa | en_US |
dc.contributor.author | García-Gomez, Sonia | en_US |
dc.contributor.author | Domínguez Acosta, Ana | en_US |
dc.contributor.author | Mendoza Quintana, Juan Jesús | en_US |
dc.contributor.author | Páez, Jesús Poch | en_US |
dc.contributor.author | García-Reino, Eduardo J. | en_US |
dc.contributor.author | Camps, Gracián | en_US |
dc.contributor.author | Martinez-Barricarte, Rubén | en_US |
dc.contributor.author | Itan, Yuval | en_US |
dc.contributor.author | Boisson, Bertrand | en_US |
dc.contributor.author | Sánchez-Ramón, Silvia | en_US |
dc.contributor.author | Regueiro, José Ramón | en_US |
dc.contributor.author | Casanova, Jean Laurent | en_US |
dc.contributor.author | Rodríguez-Gallego, Carlos | en_US |
dc.contributor.author | Pérez de Diego, Rebeca | en_US |
dc.date.accessioned | 2018-11-23T23:22:53Z | - |
dc.date.available | 2018-11-23T23:22:53Z | - |
dc.date.issued | 2016 | en_US |
dc.identifier.issn | 1521-6616 | en_US |
dc.identifier.uri | http://hdl.handle.net/10553/48612 | - |
dc.description.abstract | Antibody deficiencies can be caused by a variety of defects that interfere with B-cell development, maturation, and/or function. Using whole-exome sequencing we found a PIK3R1 mutation in a patient with hypogammaglobulinemia and a narrow clinical phenotype of respiratory infections. Early diagnosis is crucial; careful analysis of B and T-cells followed by genetic analyses may help to distinguish activated PI3K-delta syndrome (APDS) from other, less severe, predominantly antibody deficiencies. | en_US |
dc.language | eng | en_US |
dc.relation.ispartof | Clinical Immunology | en_US |
dc.source | Clinical Immunology[ISSN 1521-6616],v. 173, p. 117-120 | en_US |
dc.subject | 32 Ciencias médicas | en_US |
dc.subject | 3201 Ciencias clínicas | en_US |
dc.subject.other | APDS | en_US |
dc.subject.other | Antibody deficiency | en_US |
dc.subject.other | Immunophenotyping | en_US |
dc.subject.other | PIK3R1 | en_US |
dc.subject.other | Whole-exome sequencing | en_US |
dc.title | Gain-of-function mutation in PIK3R1 in a patient with a narrow clinical phenotype of respiratory infections | en_US |
dc.type | info:eu-repo/semantics/article | en_US |
dc.type | Article | en_US |
dc.identifier.doi | 10.1016/j.clim.2016.09.011 | en_US |
dc.identifier.scopus | 85000443158 | - |
dc.contributor.authorscopusid | 56231072200 | - |
dc.contributor.authorscopusid | 56439878400 | - |
dc.contributor.authorscopusid | 57192194588 | - |
dc.contributor.authorscopusid | 57192199195 | - |
dc.contributor.authorscopusid | 57192194696 | - |
dc.contributor.authorscopusid | 57192189536 | - |
dc.contributor.authorscopusid | 57192199932 | - |
dc.contributor.authorscopusid | 16507099700 | - |
dc.contributor.authorscopusid | 25651630400 | - |
dc.contributor.authorscopusid | 23484212500 | - |
dc.contributor.authorscopusid | 6603882745 | - |
dc.contributor.authorscopusid | 7005510950 | - |
dc.contributor.authorscopusid | 7201863327 | - |
dc.contributor.authorscopusid | 6602114379 | - |
dc.contributor.authorscopusid | 8707726700 | - |
dc.description.lastpage | 120 | en_US |
dc.description.firstpage | 117 | en_US |
dc.relation.volume | 173 | en_US |
dc.investigacion | Ciencias de la Salud | en_US |
dc.type2 | Comentario | en_US |
dc.description.numberofpages | 4 | en_US |
dc.utils.revision | Sí | en_US |
dc.date.coverdate | Diciembre 2016 | en_US |
dc.identifier.ulpgc | Sí | en_US |
dc.identifier.ulpgc | Sí | en_US |
dc.identifier.ulpgc | Sí | en_US |
dc.identifier.ulpgc | Sí | en_US |
dc.contributor.buulpgc | BU-MED | en_US |
dc.description.sjr | 1,739 | - |
dc.description.jcr | 3,99 | - |
dc.description.sjrq | Q1 | - |
dc.description.jcrq | Q2 | - |
dc.description.scie | SCIE | - |
item.grantfulltext | none | - |
item.fulltext | Sin texto completo | - |
crisitem.author.dept | GIR IUIBS: Farmacología Molecular y Traslacional | - |
crisitem.author.dept | IU de Investigaciones Biomédicas y Sanitarias | - |
crisitem.author.dept | Departamento de Ciencias Médicas y Quirúrgicas | - |
crisitem.author.orcid | 0000-0002-4344-8644 | - |
crisitem.author.parentorg | IU de Investigaciones Biomédicas y Sanitarias | - |
crisitem.author.fullName | Martínez De Saavedra Álvarez, María Teresa | - |
crisitem.author.fullName | Rodríguez Gallego, José Carlos | - |
Colección: | Comentario |
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