Article
Primary T-cell immunodeficiency with immunodysregulation caused by autosomal recessive LCK deficiency.
The Journal of allergy and clinical immunology - 1 Nov 2012
Hauck Fabian, Randriamampita Clotilde, Martin Emmanuel, Gerart Stéphane, Lambert Nathalie, Lim Annick, Soulier Jean, Maciorowski Zosia, Touzot Fabien, Moshous Despina, Quartier Pierre, Heritier Sébastien, Blanche Stéphane, Rieux-Laucat Fréderic, Brousse Nicole, Callebaut Isabelle, Veillette André, Hivroz Claire, Fischer Alain, Latour Sylvain, Picard Capucine
Abstract excerpt
BACKGROUND: Signals emanating from the antigen T-cell receptor (TCR) are required for T-cell development and function. The T lymphocyte-specific protein tyrosine kinase (Lck) is a key component of the TCR signaling machinery. On the basis of its function, we considered LCK a candidate gene in patients with combined immunodeficiency. OBJECTIVE: We identify and describe a child with a T-cell immunodeficiency caused...
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