María Teresa Martínez-Saavedra, Sonia García-Gomez, Ana Domínguez Acosta, Juan Jesús Mendoza Quintana, Jesús Poch Páez, Eduardo J García-Reino, Gracián Camps, Rubén Martinez-Barricarte, Yuval Itan, Bertrand Boisson, Silvia Sánchez-Ramón, José Ramón Regueiro, Jean-Laurent Casanova, Carlos Rodríguez-Gallego, Rebeca Pérez de Diego
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.
September 28, 2016: Clinical Immunology: the Official Journal of the Clinical Immunology Society