Figure. 6. T cells from Alagille Syndrome patients present with defective in vitro T_H1 induction.

(a) Localization of the JAG1 gene mutations in the four Alagille Syndrome patients (AP1 to AP4) assessed for T_H1 induction. The lower part depicts the exon structure of the JAG1 gene with exons 1 to 26 and the upper part the corresponding Jagged1 protein domains. Note that all four JAG1 mutations result likely in the retention of the altered protein in the endoplasmic reticulum. (b) Comparison of cytokine expression by CD4⁺ T cells from healthy donors and APs. T cells from two healthy donors (HD1 and HD2) or APs1-4 were purified from freshly-drawn blood samples and either left non-activated (NA), or activated with immobilized antibodies to CD3 and CD46 in the presence of 25 U/ml rhIL-2. Indicated cytokine secretion into the cell culture media was assessed 36h post activation using the T_H1 and T_H2 CBA Cytokine Secretion Assay. Data shown are the mean value of each condition performed in duplicate. CR, cysteine rich; nd, not detectable; PDZ, post synaptic density protein (PSD95), Drosophila disc large tumor suppressor (Dlg1), and zonula occludens-1 protein (zo-1); SP, signal peptide; TM, transmembrane;?, region of unknown function