PMC7550674_01
(A) Pedigree: c.463G > A, p.V155M mutation in STING1 was confirmed by Sanger in proband III.1 and II.2. (B) Relative quantification (RQ) of interferon stimulated genes on qPCR of whole blood RNA of III.1 (green) and 27 controls (blue). (C) Renal biopsy of II.2 (left panel) and III.1 (right panel) showing extra and intracapillary with glomerulonephritis cellular (C) and fibrocellular (FC) crescents.
fimmu-11-575219-g001.jpg
PMC7550674_02_fimmu-11-575219-g001.jpg
F1
Auto-immune serology was often determined and up to 62% of SAVI patients had positive autoantibodies (Supplementary Figure E1) mostly anti-nuclear antibody, followed by ANCA, anti-cardiolipin antibody, lupus anticoagulant, and anti-phospholipid antibody.
Clinical and genetic synopsis of 56 SAVI patients. (A) Schematic representation of potential clinical presentations (B) Schematic representation of the STING protein, consisting of 4 transmembrane domains (TM1-4, blue), dimerization domain (DD, green), cGAMP binding domain (CBD, black bar) and C-terminal tail domain (CTT, orange). Gain-of-function mutations are indicated in black with number of cases reported underneath (C) Age of onset, n = 52 reported (D) Number of associated features, n = 56 reported (E) Mortality in SAVI patients, n = 56 reported.
fimmu-11-575219-g002.jpg
PMC7550674_02_fimmu-11-575219-g002.jpg
F2
SAVI had only been described in two other patients, a male with a long-standing history of arthralgia and recurrent elevated inflammatory parameters and a 20-year-old female with interstitial lung disease (ILD), progressing to lung fibrosis requiring lung transplantation. SAVI has a high mortality rate, with 18% of reported patients deceased at the time of publication, mostly due to respiratory complications and before adulthood (Figure 2).
PMC7550674_02
(A) Pedigree: c.463G > A, p.V155M mutation in STING1 was confirmed by Sanger in proband III.1 and II.2. (B) Relative quantification (RQ) of interferon stimulated genes on qPCR of whole blood RNA of III.1 (green) and 27 controls (blue). (C) Renal biopsy of II.2 (left panel) and III.1 (right panel) showing extra and intracapillary with glomerulonephritis cellular (C) and fibrocellular (FC) crescents.
fimmu-11-575219-g001.jpg
PMC7550674_02_fimmu-11-575219-g001.jpg
F1
Auto-immune serology was often determined and up to 62% of SAVI patients had positive autoantibodies (Supplementary Figure E1) mostly anti-nuclear antibody, followed by ANCA, anti-cardiolipin antibody, lupus anticoagulant, and anti-phospholipid antibody.
Clinical and genetic synopsis of 56 SAVI patients. (A) Schematic representation of potential clinical presentations (B) Schematic representation of the STING protein, consisting of 4 transmembrane domains (TM1-4, blue), dimerization domain (DD, green), cGAMP binding domain (CBD, black bar) and C-terminal tail domain (CTT, orange). Gain-of-function mutations are indicated in black with number of cases reported underneath (C) Age of onset, n = 52 reported (D) Number of associated features, n = 56 reported (E) Mortality in SAVI patients, n = 56 reported.
fimmu-11-575219-g002.jpg
PMC7550674_02_fimmu-11-575219-g002.jpg
F2
SAVI had only been described in two other patients, a male with a long-standing history of arthralgia and recurrent elevated inflammatory parameters and a 20-year-old female with interstitial lung disease (ILD), progressing to lung fibrosis requiring lung transplantation. SAVI has a high mortality rate, with 18% of reported patients deceased at the time of publication, mostly due to respiratory complications and before adulthood (Figure 2).