PMC Articles for MedGen (Select 863507) - PMC

Select item 58077451.

Systemic autoinflammation with intractable epilepsy managed with interleukin-1 blockade

Allen D. DeSena, Thuy Do, Grant S. Schulert

J Neuroinflammation. 2018; 15: 38. Published online 2018 Feb 9. doi: 10.1186/s12974-018-1063-2

PMCID:: PMC5807745

Abstract Article PDF–565K

Select item 96388622.

Equally potent: Nlrp3 mutation in macrophages or neutrophils is sufficient to drive autoinflammation

Kaiwen W Chen

EMBO Rep. 2022 Nov; 23(11): e56091. Published online 2022 Oct 4. doi: 10.15252/embr.202256091

PMCID:: PMC9638862

Abstract Article PDF–421K

Select item 83807413.

Human TBK1 Deficiency Leads to Autoinflammation Driven by TNF-Induced Cell Death

Justin Taft, Michael Markson, Diana Legarda, Roosheel Patel, Mark Chan, Louise Malle, Ashley Richardson, Conor Gruber, Marta Martín-Fernández, Grazia M.S. Mancini, Jan A.M. van Laar, Philomine van Pelt, Sofija Buta, Beatrijs H.A. Wokke, Ira K.D. Sabli, Vanessa Sancho-Shimizu, Pallavi Pimpale Chavan, Oskar Schnappauf, Raju Khubchandani, Müşerref Kasap Cüceoğlu, Seza Özen, Daniel Kastner, Adrian T. Ting, Ivona Aksentijevich, Iris H. I. M. Hollink, Dusan Bogunovic

Cell. Author manuscript; available in PMC 2022 Aug 19.

Published in final edited form as: Cell. 2021 Aug 19; 184(17): 4447–4463.e20. Published online 2021 Aug 6. doi: 10.1016/j.cell.2021.07.026

PMCID:: PMC8380741

Abstract Article PDF–1.4M

Select item 79887654.

Murine myeloid cell MCPIP1 suppresses autoimmunity by regulating B-cell expansion and differentiation

Ewelina Dobosz, Georg Lorenz, Andrea Ribeiro, Vivian Würf, Marta Wadowska, Jerzy Kotlinowski, Christoph Schmaderer, Jan Potempa, Mingui Fu, Joanna Koziel, Maciej Lech

Dis Model Mech. 2021 Mar 1; 14(3): dmm047589. Published online 2021 Mar 18. doi: 10.1242/dmm.047589

PMCID:: PMC7988765

Abstract Article

Select item 78217365.

Systemic inflammation and chronic kidney disease in a patient due to the RNASEH2B defect

Tingyan He, Yu Xia, Jun Yang

Pediatr Rheumatol Online J. 2021; 19: 9. Published online 2021 Jan 22. doi: 10.1186/s12969-021-00497-2

PMCID:: PMC7821736

Abstract Article PDF–1.6M

Select item 73747006.

A benzimidazole inhibitor attenuates sterile inflammation induced in a model of systemic autoinflammation in female mice

Federica Agliano, Keaton S. Karlinsey, Michael Ragazzi, Antoine Ménoret, Anthony T. Vella

Sci Rep. 2020; 10: 12100. Published online 2020 Jul 21. doi: 10.1038/s41598-020-68985-1

PMCID:: PMC7374700

Abstract Article PDF–1.5M

Select item 57226557.

Neonatal detection of Aicardi Goutières Syndrome by increased C26:0 lysophosphatidylcholine and interferon signature on newborn screening blood spots

Thais Armangue, Joseph J. Orsini, Asako Takanohashi, Francesco Gavazzi, Alex Conant, Nicole Ulrick, Mark A. Morrissey, Norah Nahhas, Guy Helman, Heather Gordish-Dressman, Simona Orcesi, Davide Tonduti, Chloe Stutterd, Keith van Haren, Camilo Toro, Alejandro D. Iglesias, Marjo S. van der Knaap, Raphaela Goldbach Mansky, Anne B Moser, Richard O Jones, Adeline Vanderver

Mol Genet Metab. Author manuscript; available in PMC 2018 Nov 1.

Published in final edited form as: Mol Genet Metab. 2017 Nov; 122(3): 134–139. Published online 2017 Jul 20. doi: 10.1016/j.ymgme.2017.07.006

Correction in:: Mol Genet Metab. 2022 Mar 21

PMCID:: PMC5722655

Abstract Article PDF–670K

Select item 105165418.

Neuroinflammation, autoinflammation, splenomegaly and anemia caused by bi-allelic mutations in IRAK4

Samantha Cooray, Fiona Price-Kuehne, Ying Hong, Ebun Omoyinmi, Alice Burleigh, Kimberly C. Gilmour, Bilal Ahmad, Sangdun Choi, Mohammad W. Bahar, Paul Torpiano, Andrey Gagunashvili, Barbara Jensen, Evangelos Bellos, Vanessa Sancho-Shimizu, Jethro A. Herberg, Kshitij Mankad, Atul Kumar, Marios Kaliakatsos, Austen J. J. Worth, Despina Eleftheriou, Elizabeth Whittaker, Paul A. Brogan

Front Immunol. 2023; 14: 1231749. Published online 2023 Sep 6. doi: 10.3389/fimmu.2023.1231749

PMCID:: PMC10516541

Abstract Article PDF–8.0M

Select item 90967959.

Hereditary Systemic Autoinflammatory Diseases: Therapeutic Stratification

Ovgu Kul Cinar, Amber Putland, Karen Wynne, Despina Eleftheriou, Paul A. Brogan

Front Pediatr. 2022; 10: 867679. Published online 2022 Apr 28. doi: 10.3389/fped.2022.867679

PMCID:: PMC9096795

Abstract Article PDF–2.8M

Select item 693217310.

Molecular Insight Into the IRE1α-Mediated Type I Interferon Response Induced by Proteasome Impairment in Myeloid Cells of the Brain

Maja Studencka-Turski, Gonca Çetin, Heike Junker, Frédéric Ebstein, Elke Krüger

Front Immunol. 2019; 10: 2900. Published online 2019 Dec 18. doi: 10.3389/fimmu.2019.02900

PMCID:: PMC6932173

Abstract Article PDF–1.7M

Select item 649862711.

Disease course and treatment effects of a JAK inhibitor in a patient with CANDLE syndrome

M. Boyadzhiev, L. Marinov, V. Boyadzhiev, V. Iotova, I. Aksentijevich, S. Hambleton

Pediatr Rheumatol Online J. 2019; 17: 19. Published online 2019 May 2. doi: 10.1186/s12969-019-0322-9

PMCID:: PMC6498627

Abstract Article PDF–1.5M

Select item 445113212.

Aberrant actin depolymerization triggers the pyrin inflammasome and autoinflammatory disease that is dependent on IL-18, not IL-1β

Man Lyang Kim, Jae Jin Chae, Yong Hwan Park, Dominic De Nardo, Roslynn A. Stirzaker, Hyun-Ja Ko, Hazel Tye, Louise Cengia, Ladina DiRago, Donald Metcalf, Andrew W. Roberts, Daniel L. Kastner, Andrew M. Lew, Dena Lyras, Benjamin T. Kile, Ben A. Croker, Seth L. Masters

J Exp Med. 2015 Jun 1; 212(6): 927–938. doi: 10.1084/jem.20142384

PMCID:: PMC4451132

Abstract Article PDF–2.5M

Select item 427425313.

Bone Marrow Transplantation Improves Autoinflammation and Inflammatory Bone Loss in SH3BP2 Knock-In Cherubism Mice

Teruhito Yoshitaka, Mizuho Kittaka, Shu Ishida, Noriyoshi Mizuno, Tomoyuki Mukai, Yasuyoshi Ueki

Bone. Author manuscript; available in PMC 2016 Feb 1.

Published in final edited form as: Bone. 2015 Feb; 71: 201–209. Published online 2014 Oct 31. doi: 10.1016/j.bone.2014.10.021

PMCID:: PMC4274253

Abstract Article PDF–1.2M

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