Mutations in RNU7-1 weaken secondary RNA structure, induce MCP-1 and CXCL10 in CSF, and result in Aicardi-Goutières syndrome with severe end-organ involvement

Autor: Naesens, Leslie, Nemegeer, Josephine, Roelens, Filip, Vallaeys, Lore, Meuwissen, Marije, Janssens, Katrien, Verloo, Patrick, Ogunjimi, Benson, Hemelsoet, Dimitri, Hoste, Levi, Roels, Lisa, De Bruyne, Marieke, De Baere, Elfride, Van Dorpe, Jo, Dendooven, Amélie, Sieben, Anne, Rice, Gillian I., Kerre, Tessa, Beyaert, Rudi, Uggenti, Carolina, Crow, Yanick J., Tavernier, Simon, Maelfait, Jonathan, Haerynck, Filomeen, Program for Undiagnosed Rare Diseases (UD-PrOZA), [missing]

Publikováno v: JOURNAL OF CLINICAL IMMUNOLOGY
Journal of clinical immunology
Hoste, L, Roels, L, De Bruyne, M, De Baere, E, Van Dorpe, J, Dendooven, A, Sieben, A, Rice, G I, Kerre, T, Beyaert, R, Uggenti, C, Crow, Y J, Tavernier, S J & Maelfait, J & Haerynck, F 2022, ' Mutations in RNU7-1 weaken secondary RNA structure, induce MCP-1 and CXCL10 in CSF, and result in Aicardi-Goutières Syndrome with severe end-organ involvement ', Journal of Clinical Immunology . https://doi.org/10.1007/s10875-022-01209-5
Program for Undiagnosed Rare Diseases (UD-PrOZA) 2022, ' Mutations in RNU7-1 Weaken Secondary RNA Structure, Induce MCP-1 and CXCL10 in CSF, and Result in Aicardi-Goutieres Syndrome with Severe End-Organ Involvement ', Journal of clinical immunology . https://doi.org/10.1007/s10875-022-01209-5

Background Aicardi-Goutières syndrome (AGS) is a type I interferonopathy usually characterized by early-onset neurologic regression. Biallelic mutations in LSM11 and RNU7-1, components of the U7 small nuclear ribonucleoprotein (snRNP) complex, have

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6f019b17ed65d7bee6b706e7698f84c7
https://hdl.handle.net/1854/LU-8747264

Baricitinib Treatment in RNU7-1-Associated Aicardi-Goutières Syndrome in a South African Child: A Case Report.

Autor: Spracklen TF; Department of Paediatrics and Child Health, University of Cape Town, Cape Town, South Africa.; Cape Heart Institute, University of Cape Town, Cape Town, South Africa., Akhalwaya S; Department of Paediatrics and Child Health, University of Cape Town, Cape Town, South Africa.; Cape Paediatric Rheumatology, Cape Town, South Africa., Ackermann S; Mediclinic Constantiaberg, Cape Town, South Africa., Uggenti C; MRC Human Genetics Unit, Institute of Genetics and Cancer, the University of Edinburgh, Edinburgh, UK., Seabra L; Laboratory of Neurogenetics and Neuroinflammation, University of Paris, Imagine Institute, Paris, France., Crow YJ; MRC Human Genetics Unit, Institute of Genetics and Cancer, the University of Edinburgh, Edinburgh, UK.; Laboratory of Neurogenetics and Neuroinflammation, University of Paris, Imagine Institute, Paris, France., Webb K; Department of Paediatrics and Child Health, University of Cape Town, Cape Town, South Africa.; Crick African Network, the Francis Crick Institute, London, UK.

Publikováno v: American journal of medical genetics. Part A [Am J Med Genet A] 2025 Jan 02, pp. e63978. Date of Electronic Publication: 2025 Jan 02.