Figure 2.

Immune functional assays for interleukin receptor signaling in subsets of lymphocytes. (A) X chromosome inactivation (XCI) with (+) or without (−) Hpall. Hpall digests unmethylated alleles. The X chromosome that is active is under methylated, thus, once digested by Hpall, PCR amplification does not occur and band disappears. XCI in CD3+ T cells is skewed toward. (B) Histogram of T cell and monocyte response with STAT phosphorylation to several γc dependent (IL-2, IL-4, IL-7, IL-9, IL-15, IL-21) and independent (IL-6, IFN-α, IFN-γ) cytokines in PBMCs of patient A. (C) Total lymphocyte response with STAT5 phosphorylation to IL-21 and IL-2 stimulation in patient A, patient B and a healthy control (unstimulated in red, stimulated in blue). (D) Level of CD132 (γc) expression on CD3+ T cells of patient B and a healthy control (patient unstimulated in green, patient stimulated in red, and healthy control in blue). Eighty-four percent of patient's cells expressed CD 132 when stimulated, however, mean fluorescence intensity was lower in patient than control. X inactivation and STAT phosphorylation studies in Figures 2A,B were performed by the Department of Laboratory Medicine, Clinical Center, National Institutes of Health (Bethesda, MD).