García Gómez, Sonia García Reino, J Camps, Gracián Regueiro, José R Pérez de Diego, Rebeca
Gain-of-function mutation in PIK3R1 in a patient with a narrow clinical phenotype of respiratory infections. [caso clínico] - Clinical immunology (Orlando, Fla.), 2016 - 173:117-120.
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.
Gain-of-function mutation in PIK3R1 in a patient with a narrow clinical phenotype of respiratory infections. [caso clínico] - Clinical immunology (Orlando, Fla.), 2016 - 173:117-120.
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.
