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C-terminal variants in CDC42 drive type I interferon-dependent autoinflammation in NOCARH syndrome reversible by ruxolitinib.
Kapp FG, Kretschmer S, Beckmann CCA, Wäsch L, Molitor A, Carapito R, Schubert M, Lucas N, Conrad S, Poignant S, Isidor B, Rohlfs M, Kisaarslan AP, Schanze D, Zenker M, Schmitt-Graeff A, Strahm B, Peters A, Yoshimi A, Driever W, Zillinger T, Günther C, Maharana S, Guan K, Klein C, Ehl S, Niemeyer CM, Unal E, Bahram S, Hauck F, Lee-Kirsch MA, Speckmann C. Kapp FG, et al. Among authors: lee kirsch ma. Clin Immunol. 2023 Nov;256:109777. doi: 10.1016/j.clim.2023.109777. Epub 2023 Sep 22. Clin Immunol. 2023. PMID: 37741518
The 2021 European Alliance of Associations for Rheumatology/American College of Rheumatology Points to Consider for Diagnosis and Management of Autoinflammatory Type I Interferonopathies: CANDLE/PRAAS, SAVI, and AGS.
Cetin Gedik K, Lamot L, Romano M, Demirkaya E, Piskin D, Torreggiani S, Adang LA, Armangue T, Barchus K, Cordova DR, Crow YJ, Dale RC, Durrant KL, Eleftheriou D, Fazzi EM, Gattorno M, Gavazzi F, Hanson EP, Lee-Kirsch MA, Montealegre Sanchez GA, Neven B, Orcesi S, Ozen S, Poli MC, Schumacher E, Tonduti D, Uss K, Aletaha D, Feldman BM, Vanderver A, Brogan PA, Goldbach-Mansky R. Cetin Gedik K, et al. Arthritis Rheumatol. 2022 May;74(5):735-751. doi: 10.1002/art.42087. Epub 2022 Mar 21. Arthritis Rheumatol. 2022. PMID: 35315249
[Uncovering rare diseases in medical data-coding].
Martin T, Rommel K, Thomas C, Eymann J, Kretschmer T, Berner R, Lee-Kirsch MA, Hebestreit H. Martin T, et al. Bundesgesundheitsblatt Gesundheitsforschung Gesundheitsschutz. 2022 Nov;65(11):1133-1142. doi: 10.1007/s00103-022-03598-9. Epub 2022 Oct 14. Bundesgesundheitsblatt Gesundheitsforschung Gesundheitsschutz. 2022. PMID: 36239768 Free PMC article. Review. German.
The Status Quo of Rare Diseases Centres for the Development of a Clinical Decision Support System - A Cross-Sectional Study.
Schaaf J, Sedlmayr M, Prokosch HU, Ganslandt T, Schade-Brittinger C, von Wagner M, Kadioglu D, Schubert K, Lee-Kirsch MA, Kraemer BK, Winner B, Mueller T, Schaefer JR, Wagner TOF, Bruckner-Tuderman L, Tuescher O, Boeker M, Storf H. Schaaf J, et al. Stud Health Technol Inform. 2020 Jun 23;271:176-183. doi: 10.3233/SHTI200094. Stud Health Technol Inform. 2020. PMID: 32578561
Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 are associated with systemic lupus erythematosus.
Lee-Kirsch MA, Gong M, Chowdhury D, Senenko L, Engel K, Lee YA, de Silva U, Bailey SL, Witte T, Vyse TJ, Kere J, Pfeiffer C, Harvey S, Wong A, Koskenmies S, Hummel O, Rohde K, Schmidt RE, Dominiczak AF, Gahr M, Hollis T, Perrino FW, Lieberman J, Hübner N. Lee-Kirsch MA, et al. Nat Genet. 2007 Sep;39(9):1065-7. doi: 10.1038/ng2091. Epub 2007 Jul 29. Nat Genet. 2007. PMID: 17660818
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