365916.fig.002a
(a)
365916.fig.002b
(b)
365916.fig.002c
(c)
365916.fig.002d
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365916.fig.002e
(e)
Figure 2: TACI expression and function are decreased in the CVID patient compared to her asymptomatic sibling. (a) Pedigree of the studied family. Circles display females; squares display males. The index patient is indicated with an arrow. (b) Chest high-resolution CT scan of the index patient, revealing peribronchial consolidations with ground glass appearance and peribronchial thickening. ((c)-(d)) TACI surface (c ii) or intracellular (c iii) protein and mRNA expression. Light grey line indicated isotype indicated dark grey, TACI (c i). Results of 5 healthy donors: 3 CVID patients with normal TACI, 2 CVID patients with monoallelic A181E, the index patient and sibling 2. For (d) average results of 3 independent experiments are shown. (e) AID (left) and NFAT (right) mRNA induction after 48 h culture of LCL with the indicated stimuli. Bars represent means ± standard error of the mean.