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Monogenic Lupus with IgA Nephropathy Caused by Spondyloenchondrodysplasia with Immune Dysregulation.
Sait H, Gangadharan H, Gupta A, Aggarwal A, Jain M, Phadke SR. Sait H, et al. Indian J Pediatr. 2021 Aug;88(8):819-823. doi: 10.1007/s12098-020-03636-x. Epub 2021 Mar 13. Indian J Pediatr. 2021. PMID: 33712926
Monogenic disorders causing systemic lupus erythematosus represent a small subset of cases. Type-1 interferonopathies, like spondyloenchondrodysplasia with immune dysregulation constitute an important functional category of monogenic lupus. ...This cas …
Monogenic disorders causing systemic lupus erythematosus represent a small subset of cases. Type-1 interferonopathies, like spondyloencho …
Spondyloenchondrodysplasia with immune dysregulation related to ACP5. A report of 4 cases.
Dri J, Dos Santos E, Pereyra M, Guillamondegui MJ, Ballester C, Tolin A, Gatica C. Dri J, et al. Arch Argent Pediatr. 2024 Feb 1;122(1):e202303031. doi: 10.5546/aap.2023-03031.eng. Epub 2023 Jul 6. Arch Argent Pediatr. 2024. PMID: 37382551 Free article. English, Spanish.
Spondyloenchondrodysplasia with immune dysregulation related to ACP5 (SPENCDI, OMIM number 607944) is an uncommon immune-skeletal dysplasia with heterogeneous manifestations and variable severity. ...In 3 patients, the likely pathogenic variant c.791T& …
Spondyloenchondrodysplasia with immune dysregulation related to ACP5 (SPENCDI, OMIM number 607944) is an uncommo …
Spondyloenchondrodysplasia Due to Mutations in ACP5: A Comprehensive Survey.
Briggs TA, Rice GI, Adib N, Ades L, Barete S, Baskar K, Baudouin V, Cebeci AN, Clapuyt P, Coman D, De Somer L, Finezilber Y, Frydman M, Guven A, Heritier S, Karall D, Kulkarni ML, Lebon P, Levitt D, Le Merrer M, Linglart A, Livingston JH, Navarro V, Okenfuss E, Puel A, Revencu N, Scholl-Bürgi S, Vivarelli M, Wouters C, Bader-Meunier B, Crow YJ. Briggs TA, et al. J Clin Immunol. 2016 Apr;36(3):220-34. doi: 10.1007/s10875-016-0252-y. Epub 2016 Mar 8. J Clin Immunol. 2016. PMID: 26951490 Free PMC article.
METHODS: We compiled clinical, genetic and serological data from a total of 26 patients from 18 pedigrees, all with biallelic ACP5 mutations. RESULTS: We observed a variability in skeletal, neurological and immune phenotypes, which was sometimes marked even between affecte …
METHODS: We compiled clinical, genetic and serological data from a total of 26 patients from 18 pedigrees, all with biallelic ACP5 mutations …
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-Goutieres s …
OBJECTIVE: This study aimed to assess the efficacy and safety of 2 Janus kinase (JAK) inhibitors (jakinibs) tofacitinib and ruxolitinib in t …
Genetic analysis of leukocyte type-I interferon production and risk of coronary artery disease.
Nelson CP, Schunkert H, Samani NJ, Erridge C. Nelson CP, et al. Arterioscler Thromb Vasc Biol. 2015 Jun;35(6):1456-62. doi: 10.1161/ATVBAHA.114.304925. Epub 2015 Apr 16. Arterioscler Thromb Vasc Biol. 2015. PMID: 25882064 Free article.
APPROACH AND RESULTS: Using a list of 11 single nucleotide polymorphisms from the results of genome-wide association studies for systemic lupus erythematosus, which we hypothesised would be enriched in variants that regulate type-I IFN production, we identified a genetic risk …
APPROACH AND RESULTS: Using a list of 11 single nucleotide polymorphisms from the results of genome-wide association studies for systemic lu …