Article
A reversion of an IL2RG mutation in combined immunodeficiency providing competitive advantage to the majority of CD8+ T cells.
Haematologica - 1 Jul 2013
Kuijpers Taco W, van Leeuwen Ester M M, Barendregt Barbara H, Klarenbeek Paul, aan de Kerk Daan J, Baars Paul A, Jansen Machiel H, de Vries Niek, van Lier René A W, van der Burg Mirjam
Abstract excerpt
Mutations in the common gamma chain (γc, CD132, encoded by the IL2RG gene) can lead to B(+)T(-)NK(-) X-linked severe combined immunodeficiency, as a consequence of unresponsiveness to γc-cytokines such as interleukins-2, -7 and -15. Hypomorphic mutations in CD132 may cause combined immunodeficiencies with a variety of clinical presentations. We analyzed peripheral blood mononuclear cells of a 6-year-old boy with...
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