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Year Number of Results
1998 1
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2018 7
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2022 4
2023 3
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46 results

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Page 1
Interferon signaling gene expression as a diagnostic biomarker for monogenic interferonopathies.
Adang LA, D'Aiello R, Takanohashi A, Woidill S, Gavazzi F, Behrens EM, Sullivan KE, Goldbach-Mansky R, de Jesus AA, Workgroup A, Vanderver A, Shults J. Adang LA, et al. JCI Insight. 2024 Jun 11:e178456. doi: 10.1172/jci.insight.178456. Online ahead of print. JCI Insight. 2024. PMID: 38885315 Free article.
Interferon signaling gene (ISG) expression scores are potential markers of inflammation with significance from cancer to genetic syndromes. In Aicardi Goutieres Syndrome (AGS), a disorder of abnormal DNA and RNA metabolism, this score has potential as a diagn …
Interferon signaling gene (ISG) expression scores are potential markers of inflammation with significance from cancer to genetic syndromes. …
Characterization of Fine Motor and Visual Motor Skills in Aicardi-Goutieres Syndrome.
Cusack SV, Gavazzi F, de Barcelos IP, Modesti NB, Woidill S, Formanowski B, DeMauro SB, Lorch S, Vincent A, Jawad AF, Estilow T, Glanzman AM, Vanderver A, Adang LA. Cusack SV, et al. J Child Neurol. 2024 Mar;39(3-4):147-154. doi: 10.1177/08830738241241786. Epub 2024 Mar 27. J Child Neurol. 2024. PMID: 38532733 Free PMC article.
Aicardi-Goutieres syndrome is a genetic inflammatory disorder resulting in dispersed neurologic dysfunction. ...The Peabody Developmental Motor Scales-2 grasping and visual-motor integration showed promise as potential assessment tools in moderate and attenua
Aicardi-Goutieres syndrome is a genetic inflammatory disorder resulting in dispersed neurologic dysfunction. ...The Pea
Neuropathologic Impacts of JAK Inhibitor Treatment in Aicardi-Goutieres Syndrome.
Jafarpour S, Suddock J, Hawes D, Santoro JD. Jafarpour S, et al. J Clin Immunol. 2024 Feb 21;44(3):68. doi: 10.1007/s10875-024-01672-2. J Clin Immunol. 2024. PMID: 38381212
Aicardi-Goutieres syndrome (AGS) is a genetic interferonopathy characterized by upregulation of type I interferon response. ...
Aicardi-Goutieres syndrome (AGS) is a genetic interferonopathy characterized by upregulation of type I interferon respo
Efficacy and safety of thalidomide in children with monogenic autoinflammatory diseases: a single-center, real-world-evidence study.
Zhang C, Yu Z, Gao S, Ma M, Gou L, Wang C, Wang L, Li J, Zhong L, Zhou Y, Wang W, Song H. Zhang C, et al. Pediatr Rheumatol Online J. 2023 Oct 17;21(1):124. doi: 10.1186/s12969-023-00881-0. Pediatr Rheumatol Online J. 2023. PMID: 37848905 Free PMC article.
The efficacy and adverse events were evaluated and recorded every 3 months. After 3 and 12 months of thalidomide treatment, clinical manifestations, disease activity score, inflammatory markers, and background medication adjustments were compared with baseline for efficacy …
The efficacy and adverse events were evaluated and recorded every 3 months. After 3 and 12 months of thalidomide treatment, clinical
Efficacy and safety of baricitinib in Japanese patients with autoinflammatory type I interferonopathies (NNS/CANDLE, SAVI, And AGS).
Kanazawa N, Ishii T, Takita Y, Nishikawa A, Nishikomori R. Kanazawa N, et al. Pediatr Rheumatol Online J. 2023 Apr 22;21(1):38. doi: 10.1186/s12969-023-00817-8. Pediatr Rheumatol Online J. 2023. PMID: 37087470 Free PMC article. Clinical Trial.
BACKGROUND: This study evaluated the efficacy and safety of baricitinib (Janus kinase-1/2 inhibitor), in adult and pediatric Japanese patients with Nakajo-Nishimura syndrome/chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (NNS/CANDLE), stimula …
BACKGROUND: This study evaluated the efficacy and safety of baricitinib (Janus kinase-1/2 inhibitor), in adult and pediatric Japanese patien …
Clinical spectrum and currently available treatment of type I interferonopathy Aicardi-Goutieres syndrome.
Dell'Isola GB, Dini G, Culpepper KL, Portwood KE, Ferrara P, Di Cara G, Verrotti A, Lodolo M. Dell'Isola GB, et al. World J Pediatr. 2023 Jul;19(7):635-643. doi: 10.1007/s12519-022-00679-2. Epub 2023 Jan 17. World J Pediatr. 2023. PMID: 36650407 Free PMC article. Review.
BACKGROUND: Aicardi-Goutieres syndrome (AGS) is a genetically determined disorder with a variable phenotype. Since the original description of AGS, advances in gene sequencing techniques have resulted in a significant broadening of the phenotypic spectrum ass …
BACKGROUND: Aicardi-Goutieres syndrome (AGS) is a genetically determined disorder with a variable phenotype. Since the …
JAK: Not Just Another Kinase.
Agashe RP, Lippman SM, Kurzrock R. Agashe RP, et al. Mol Cancer Ther. 2022 Dec 2;21(12):1757-1764. doi: 10.1158/1535-7163.MCT-22-0323. Mol Cancer Ther. 2022. PMID: 36252553 Free PMC article. Review.
JAK inhibitors (jakinibs) have been deployed in many conditions with JAK activation; they are approved in myeloproliferative disorders, rheumatoid and psoriatic arthritis, atopic dermatitis, ulcerative colitis, graft-versus-host disease, alopecia areata, ankylosing spondylitis, a …
JAK inhibitors (jakinibs) have been deployed in many conditions with JAK activation; they are approved in myeloproliferative disorders, rheu …
Hematologic abnormalities in Aicardi Goutieres Syndrome.
Adang LA, Gavazzi F, D'Aiello R, Isaacs D, Bronner N, Arici ZS, Flores Z, Jan A, Scher C, Sherbini O, Behrens EM, Goldbach-Mansky R, Olson TS, Lambert MP, Sullivan KE, Teachey DT, Witmer C, Vanderver A, Shults J. Adang LA, et al. Mol Genet Metab. 2022 Aug;136(4):324-329. doi: 10.1016/j.ymgme.2022.06.003. Epub 2022 Jun 16. Mol Genet Metab. 2022. PMID: 35786528 Free PMC article.
The most common genetic interferonopathy, Aicardi Goutieres Syndrome (AGS), is associated with early onset neurologic disability and systemic inflammation. ...Information on genotype, demographics, and all available hematologic laboratory values were collecte …
The most common genetic interferonopathy, Aicardi Goutieres Syndrome (AGS), is associated with early onset neurologic d …
Janus Kinase Inhibitors in the Treatment of Type I Interferonopathies: A Case Series From a Single Center in China.
Li W, Wang W, Wang W, Zhong L, Gou L, Wang C, Ma J, Quan M, Jian S, Tang X, Zhang Y, Wang L, Ma M, Song H. Li W, et al. Front Immunol. 2022 Mar 28;13:825367. doi: 10.3389/fimmu.2022.825367. eCollection 2022. Front Immunol. 2022. PMID: 35418997 Free PMC article.
OBJECTIVE: This study aimed to assess the efficacy and safety of 2 Janus kinase (JAK) inhibitors (jakinibs) tofacitinib and ruxolitinib in the treatment of type I interferonopathies patients including STING-associated vasculopathy with onset in infancy (SAVI), Aicardi-G
OBJECTIVE: This study aimed to assess the efficacy and safety of 2 Janus kinase (JAK) inhibitors (jakinibs) tofacitinib and ruxolitinib in t …
Type I interferon-related kidney disorders.
Lodi L, Mastrolia MV, Bello F, Rossi GM, Angelotti ML, Crow YJ, Romagnani P, Vaglio A. Lodi L, et al. Kidney Int. 2022 Jun;101(6):1142-1159. doi: 10.1016/j.kint.2022.02.031. Epub 2022 Mar 24. Kidney Int. 2022. PMID: 35339535 Review.
Collapsing glomerulopathy, a histopathological lesion characterized by podocyte loss, collapse of the vascular tuft, and parietal epithelial cell proliferation, is commonly associated with viral infections, has been described in type 1 interferonopathies such as Aicardi- …
Collapsing glomerulopathy, a histopathological lesion characterized by podocyte loss, collapse of the vascular tuft, and parietal epithelial …
46 results