Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
5654971 | Clinical Immunology | 2016 | 4 Pages |
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.
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Authors
MarÃa Teresa MartÃnez-Saavedra, Sonia GarcÃa-Gomez, Ana DomÃnguez Acosta, Juan Jesús Mendoza Quintana, Jesús Poch Páez, Eduardo J. GarcÃa-Reino, Gracián Camps, Rubén Martinez-Barricarte, Yuval Itan, Bertrand Boisson, Silvia Sánchez-Ramón,