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. Author manuscript; available in PMC: 2024 Jul 12.
Published in final edited form as: Genet Med. 2024 Mar 10;26(6):101120. doi: 10.1016/j.gim.2024.101120

Figure 7. UPS14 loss-of-function is not consistently associated with sterile type I IFN responses.

Figure 7.

Interferon (IFN) scores of whole-blood samples collected and stabilized in PAXgene RNA tubes from three unrelated healthy individuals (HD) and subjects carrying the p.(Arg330*) and/or p.(Leu3Pro) USP14 variants, as indicated. Scores were calculated as the median of the relative quantification (RQ) of seven ISG (i.e., IFIT1, IFI27, IFI44L, ISG15, RSAD2 and SIGLEC1) over a single calibrator control, as measured by RT-qPCR (see Materials & Methods). Statistical significance was assessed by paired ratio t test (*p<0.05 and **p<0.01).