Abstract:Interleukin-2, which conveys essential signals for effective immunity and immunological tolerance, operates through a heterotrimeric receptor comprised of a, b, and g chains. Genetic deficiency of the a or g chain causes debilitating disease. Here we identify human interleukin-2 receptor (IL-2R) b chain (CD122) gene defects as a cause of life-threatening dysregulation of immunity and peripheral tolerance. We report homozygous mutations in the human IL-2Rb gene from four consanguineous families, comprising eith… Show more
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