@article{fdi:010093141,
  title = {{I}dentification of a novel {G}245{R} polymorphism in the {IL}-2 receptor beta membrane proximal domain associated with human visceral leishmaniasis},
  author = {{B}ucheton, {B}runo and {A}rgiro, {L}. and {C}hevillard, {C}. and {M}arquet, {S}. and {K}heir, {M}.{M}. and {M}ergani, {A}. and {E}l-{S}afi, {S}.{H}. and {D}essein, {A}.{J}.},
  editor = {},
  language = {{ENG}},
  abstract = {{B}inding of the interleukin-2 ({IL}-2) to the {IL}-2 receptor ({IL}-2{R}) triggers a series of intracellular events culminating in lymphocyte proliferation and differentiation. {W}e report here the identification of a novel {G}245{R} polymorphism in the membrane proximal domain of the {IL}-2 receptor ? chain ({IL}-2{R}?). {P}resent at a frequency of 7.2%, the {IL}-2-{R}? {G}245{R} was identified in a population of {E}astern {S}udan exposed to a severe outbreak of visceral leishmaniasis ({VL}), a disease associated with a marked depression of {T}-cell antigen-specific responses. {T}he location of the {G}245{R} 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 {J}anus kinase ({JAK}) association and impair growth signal transduction. {H}owever, additional genetic association with a synonymous single nucleotide polymorphism ({IL}2{RB}+8777{T}) suggests that other variations of {IL}2{RB} or nearby genes participate in the highly significant linkage with {VL} at 22q12 previously reported for this population.},
  keywords = {},
  booktitle = {},
  journal = {{G}enes an {I}mmunity},
  volume = {8},
  numero = {1},
  pages = {79--83},
  ISSN = {1466-4879},
  year = {2007},
  DOI = {10.1038/sj.gene.6364355},
  URL = {https://www.documentation.ird.fr/hor/fdi:010093141},
}