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http://hdl.handle.net/10553/48612
| Título: | Gain-of-function mutation in PIK3R1 in a patient with a narrow clinical phenotype of respiratory infections | Autores/as: | Martínez De Saavedra Álvarez, María Teresa García-Gomez, Sonia Domínguez Acosta, Ana Mendoza Quintana, Juan Jesús Páez, Jesús Poch García-Reino, Eduardo J. Camps, Gracián Martinez-Barricarte, Rubén Itan, Yuval Boisson, Bertrand Sánchez-Ramón, Silvia Regueiro, José Ramón Casanova, Jean Laurent Rodríguez-Gallego, Carlos Pérez de Diego, Rebeca |
Clasificación UNESCO: | 32 Ciencias médicas 3201 Ciencias clínicas |
Palabras clave: | APDS Antibody deficiency Immunophenotyping PIK3R1 Whole-exome sequencing |
Fecha de publicación: | 2016 | Publicación seriada: | Clinical Immunology | Resumen: | 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. | URI: | http://hdl.handle.net/10553/48612 | ISSN: | 1521-6616 | DOI: | 10.1016/j.clim.2016.09.011 | Fuente: | Clinical Immunology[ISSN 1521-6616],v. 173, p. 117-120 |
| Colección: | Comentario |
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