Article
Gain-of-function mutation in PIK3R1 in a patient with a narrow clinical phenotype of respiratory infections.
Clinical immunology (Orlando, Fla.) - 1 Dec 2016
Martínez-Saavedra 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
Abstract excerpt
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...
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