Article
Identification of variations in the human phosphoinositide 3‐kinase <i>p110δ</i> gene in children with primary B‐cell immunodeficiency of unknown aetiology
18 Sept 2006
Abstract excerpt
Our recent study demonstrated that defects in p110delta result in B-cell immunodeficiency that is very similar to that observed in BTK-deficient mice. We revealed that the p110delta fit the B-cell signal transduction complex and played a non-redundant role in the development and function of B cells. In humans, most children with primary B-cell immunodeficiency have mutations in the BTK, whereas a few have defects...
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