Figure 6. TREX1 RVCL patient lymphoblasts show elevated free glycans and immune gene expression.
(A, B) FACE analysis of free glycans in lymphoblasts from RVCL patients and healthy controls. Three healthy controls, three RVCL patients (V235fs) are shown individually in A. Duplicate measurements of total free glycans in each individual are shown in B. (C, D) Free glycan and ISG analysis of lymphoblasts from RVCL patients and healthy controls treated with 1 micromolar Acm for 24 hrs. Data are representative of at least three independent experiments. Unpaired t-test (B, D).