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Page 1
Anakinra-Associated Systemic Amyloidosis.
Alehashemi S, Dasari S, Metpally A, Uss K, Castelo-Soccio LA, Heller T, Kellman P, Chen MY, Ahlman M, Kim J, Wargo S, Kuhns DB, Fink D, de Jesus A, Martin PS, Chang R, Bolanos J, Lee CR, Nasr SH, Goldbach-Mansky R, McPhail E. Alehashemi S, et al. Arthritis Rheumatol. 2024 Jan;76(1):100-106. doi: 10.1002/art.42664. Epub 2023 Nov 29. Arthritis Rheumatol. 2024. PMID: 37488949
Genetically programmed alternative splicing of NEMO mediates an autoinflammatory disease phenotype.
Lee Y, Wessel AW, Xu J, Reinke JG, Lee E, Kim SM, Hsu AP, Zilberman-Rudenko J, Cao S, Enos C, Brooks SR, Deng Z, Lin B, de Jesus AA, Hupalo DN, Piotto DG, Terreri MT, Dimitriades VR, Dalgard CL, Holland SM, Goldbach-Mansky R, Siegel RM, Hanson EP. Lee Y, et al. J Clin Invest. 2022 Mar 15;132(6):e128808. doi: 10.1172/JCI128808. J Clin Invest. 2022. PMID: 35289316 Free PMC article.
Deficiency of Interleukin-1 Receptor Antagonist (DIRA): Report of the First Indian Patient and a Novel Deletion Affecting IL1RN.
Mendonca LO, Malle L, Donovan FX, Chandrasekharappa SC, Montealegre Sanchez GA, Garg M, Tedgard U, Castells M, Saini SS, Dutta S, Goldbach-Mansky R, Suri D, Jesus AA. Mendonca LO, et al. J Clin Immunol. 2017 Jul;37(5):445-451. doi: 10.1007/s10875-017-0399-1. Epub 2017 May 15. J Clin Immunol. 2017. PMID: 28503715 Free PMC article. Review.
A clinical score to guide in decision making for monogenic type I IFNopathies.
Sönmez HE, Karaaslan C, de Jesus AA, Batu ED, Anlar B, Sözeri B, Bilginer Y, Karaguzel D, Cagdas Ayvaz D, Tezcan I, Goldbach-Mansky R, Ozen S. Sönmez HE, et al. Pediatr Res. 2020 Mar;87(4):745-752. doi: 10.1038/s41390-019-0614-2. Epub 2019 Oct 22. Pediatr Res. 2020. PMID: 31641281 Free PMC article.
A novel STING1 variant causes a recessive form of STING-associated vasculopathy with onset in infancy (SAVI).
Lin B, Berard R, Al Rasheed A, Aladba B, Kranzusch PJ, Henderlight M, Grom A, Kahle D, Torreggiani S, Aue AG, Mitchell J, de Jesus AA, Schulert GS, Goldbach-Mansky R. Lin B, et al. J Allergy Clin Immunol. 2020 Nov;146(5):1204-1208.e6. doi: 10.1016/j.jaci.2020.06.032. Epub 2020 Jul 13. J Allergy Clin Immunol. 2020. PMID: 32673614 Free PMC article. No abstract available.
Severe autoinflammation in 4 patients with C-terminal variants in cell division control protein 42 homolog (CDC42) successfully treated with IL-1β inhibition.
Gernez Y, de Jesus AA, Alsaleem H, Macaubas C, Roy A, Lovell D, Jagadeesh KA, Alehashemi S, Erdman L, Grimley M, Talarico S, Bacchetta R, Lewis DB, Canna SW, Laxer RM, Mellins ED, Goldbach-Mansky R, Weinacht KG. Gernez Y, et al. J Allergy Clin Immunol. 2019 Oct;144(4):1122-1125.e6. doi: 10.1016/j.jaci.2019.06.017. Epub 2019 Jul 2. J Allergy Clin Immunol. 2019. PMID: 31271789 Free PMC article. No abstract available.