Gain-of-function mutation in PIK3R1 in a patient with a narrow clinical phenotype of respiratory infections. [caso clínico]
Por: García Gómez, Sonia [Instituto de Investigación imas12]
| García Reino, J [Instituto de Investigación imas12] | Camps, Gracián [Instituto de Investigación imas12] | Regueiro, José R [Instituto de Investigación i+12] | Pérez de Diego, Rebeca [Instituto de Investigación imas12].
Colaborador(es): Instituto de Investigación imas12.
Tipo de material: 
ArtículoEditor: Clinical immunology (Orlando, Fla.), 2016Descripción: 173:117-120.Recursos en línea: Solicitar documento 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.
| Tipo de ítem | Ubicación actual | Signatura | Estado | Fecha de vencimiento |
|---|---|---|---|---|
Caso clínico
|
PC17847 (Navegar estantería) | Disponible |
Navegando Hospital Universitario 12 de Octubre Estantes Cerrar el navegador de estanterías
Formato Vancouver:
Martínez Saavedra MT, García Gómez S, Domínguez Acosta A, Mendoza Quintana JJ, Páez JP, García Reino EJ et al. Gain-of-function mutation in PIK3R1 in a patient with a narrow clinical phenotype of respiratory infections. Clin Immunol. 2016 Dec;173:117-120.
PMID: 27693481
Contiene 13 referencias
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.
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