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Clin Immunol ; 173: 117-120, 2016 Dec.
Article in English | MEDLINE | ID: mdl-27693481

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.


Subject(s)
Agammaglobulinemia/genetics , Phosphatidylinositol 3-Kinases/genetics , Respiratory Tract Infections/genetics , Agammaglobulinemia/immunology , B-Lymphocytes/immunology , Child , Class Ia Phosphatidylinositol 3-Kinase , Female , Humans , Mutation , Phenotype , Respiratory Tract Infections/immunology , T-Lymphocytes/immunology
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