Gain-of-function mutation in PIK3R1 in a patient with a narrow clinical phenotype of respiratory infections

Publication date: Available online 28 September 2016
Source:Clinical Immunology
Author(s): 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.



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