Article
Mutations in linker for activation of T cells (LAT) lead to a novel form of severe combined immunodeficiency.
The Journal of allergy and clinical immunology - 1 Feb 2017
Bacchelli Chiara, Moretti Federico A, Carmo Marlene, Adams Stuart, Stanescu Horia C, Pearce Kerra, Madkaikar Manisha, Gilmour Kimberly C, Nicholas Adeline K, Woods C Geoffrey, Kleta Robert, Beales Phil L, Qasim Waseem, Gaspar H Bobby
Abstract excerpt
BACKGROUND: Signaling through the T-cell receptor (TCR) is critical for T-cell development and function. Linker for activation of T cells (LAT) is a transmembrane adaptor signaling molecule that is part of the TCR complex and essential for T-cell development, as demonstrated by LAT-deficient mice, which show a complete lack of peripheral T cells. OBJECTIVE: We describe a pedigree affected by a severe combined...
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