Biomarkers
Nakajo-Nishimura, AGS, vasculopathy, lipodystrophy, neutrophilic dermatosis
SYSTEMIC LUPUS ERYTHEMATOSUS, LIPODYSTROPHY, NEUTROPHILIC DERMATOSIS
Interferon-inducible protein 10/C-X-C motif chemokine 10 (IP-10/CXCL10) decreased from baseline in patients with NNS/CANDLE at the end of the primary treatment period (9146.5) and maintenance treatment period (7652.2). Results of IP-10/CXCL10 could not be determined for patients with SAVI and AGS due to limited blood samples. IGS decreased in patients with NNS/CANDLE and AGS consistently throughout the study, with the mean change from baseline at -2.7 and -1.4 at the end of the maintenance period (Week 52), respectively (Fig. Mean change from baseline in IFN gene score across patients with NNS/CANDLE and AGS. AGS = Aicardi-Goutières syndrome; IFN = interferon; LOCF = last observation carried forward; NNS/CANDLE = Nakajo-Nishimura syndrome/chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature; SAVI = STING-associated vasculopathy with onset during infancy; SLE = Systemic Lupus Erythematosus; STING = stimulator of interferon genes. Note: Genes including Mean change from baseline in C-reactive protein (mg/dL) across patients with NNS/CANDLE, SAVI, or AGS. AGS = Aicardi-Goutières syndrome; IFN = interferon; LOCF = last observation carried forward; NNS/CANDLE = Nakajo-Nishimura syndrome/chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature; SAVI = STING-associated vasculopathy with onset during infancy; STING = stimulator of interferon genes. LOCF data were used for imputation