%0 Journal Article
%9 ACL : Articles dans des revues avec comité de lecture répertoriées par l'AERES
%A Bucheton, Bruno
%A Argiro, L.
%A Chevillard, C.
%A Marquet, S.
%A Kheir, M.M.
%A Mergani, A.
%A El-Safi, S.H.
%A Dessein, A.J.
%T Identification of a novel G245R polymorphism in the IL-2 receptor beta membrane proximal domain associated with human visceral leishmaniasis
%D 2007
%L fdi:010093141
%G ENG
%J Genes an Immunity
%@ 1466-4879
%M ISI:000243783500011
%N 1
%P 79-83
%R 10.1038/sj.gene.6364355
%U https://www.documentation.ird.fr/hor/fdi:010093141
%> https://www.documentation.ird.fr/intranet/publi/2025-02/010093141.pdf
%V 8
%W Horizon (IRD)
%X Binding of the interleukin-2 (IL-2) to the IL-2 receptor (IL-2R) triggers a series of intracellular events culminating in lymphocyte proliferation and differentiation. We report here the identification of a novel G245R polymorphism in the membrane proximal domain of the IL-2 receptor ? chain (IL-2R?). Present at a frequency of 7.2%, the IL-2-R? G245R was identified in a population of Eastern Sudan exposed to a severe outbreak of visceral leishmaniasis (VL), a disease associated with a marked depression of T-cell antigen-specific responses. The location of the G245R polymorphism next to the box1/box2 proximal cytokine receptor homology segment and suggestive genetic association with the development of disease (P=0.043), suggest that it may affect Janus kinase (JAK) association and impair growth signal transduction. However, additional genetic association with a synonymous single nucleotide polymorphism (IL2RB+8777T) suggests that other variations of IL2RB or nearby genes participate in the highly significant linkage with VL at 22q12 previously reported for this population.
%$ 052