Please use this identifier to cite or link to this item: http://hdl.handle.net/10553/48612
Title: Gain-of-function mutation in PIK3R1 in a patient with a narrow clinical phenotype of respiratory infections
Authors: Martínez De Saavedra Álvarez, 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
UNESCO Clasification: 32 Ciencias médicas
3201 Ciencias clínicas
Keywords: APDS
Antibody deficiency
Immunophenotyping
PIK3R1
Whole-exome sequencing
Issue Date: 2016
Journal: Clinical Immunology 
Abstract: 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.
URI: http://hdl.handle.net/10553/48612
ISSN: 1521-6616
DOI: 10.1016/j.clim.2016.09.011
Source: Clinical Immunology[ISSN 1521-6616],v. 173, p. 117-120
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