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[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.
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
Tissue factor binds to and inhibits interferon-α receptor 1 signaling.
Manoharan J, Rana R, Kuenze G, Gupta D, Elwakiel A, Ambreen S, Wang H, Banerjee K, Zimmermann S, Singh K, Gupta A, Fatima S, Kretschmer S, Schaefer L, Zeng-Brouwers J, Schwab C, Al-Dabet MM, Gadi I, Altmann H, Koch T, Poitz DM, Baber R, Kohli S, Shahzad K, Geffers R, Lee-Kirsch MA, Kalinke U, Meiler J, Mackman N, Isermann B. Manoharan J, et al. Among authors: lee kirsch ma. Immunity. 2024 Jan 9;57(1):68-85.e11. doi: 10.1016/j.immuni.2023.11.017. Epub 2023 Dec 22. Immunity. 2024. PMID: 38141610
Phenotypic spectrum in recessive STING-associated vasculopathy with onset in infancy: Four novel cases and analysis of previously reported cases.
Wan R, Fänder J, Zakaraia I, Lee-Kirsch MA, Wolf C, Lucas N, Olfe LI, Hendrich C, Jonigk D, Holzinger D, Steindor M, Schmidt G, Davenport C, Klemann C, Schwerk N, Griese M, Schlegelberger B, Stehling F, Happle C, Auber B, Steinemann D, Wetzke M, von Hardenberg S. Wan R, et al. Front Immunol. 2022 Oct 6;13:1029423. doi: 10.3389/fimmu.2022.1029423. eCollection 2022. Front Immunol. 2022. PMID: 36275728 Free PMC article.
[Genetic methods for analysis of autoinflammatory diseases].
Bienias M, König N, Wolf C, Kretschmer S, Rösen-Wolff A, Berner R, Tüngler V, Lee-Kirsch MA. Bienias M, et al. Z Rheumatol. 2017 May;76(4):295-302. doi: 10.1007/s00393-017-0300-x. Z Rheumatol. 2017. PMID: 28378116 Review. German.
Therapeutic Approaches to Type I Interferonopathies.
Bienias M, Brück N, Griep C, Wolf C, Kretschmer S, Kind B, Tüngler V, Berner R, Lee-Kirsch MA. Bienias M, et al. Curr Rheumatol Rep. 2018 Apr 20;20(6):32. doi: 10.1007/s11926-018-0743-3. Curr Rheumatol Rep. 2018. PMID: 29679241 Review.
Janus kinase inhibition in complement component 1 deficiency.
Wolf C, Brück N, Koss S, Griep C, Kirschfink M, Palm-Beden K, Fang M, Röber N, Winkler S, Berner R, Latz E, Günther C, Lee-Kirsch MA. Wolf C, et al. J Allergy Clin Immunol. 2020 Dec;146(6):1439-1442.e5. doi: 10.1016/j.jaci.2020.04.002. Epub 2020 Apr 20. J Allergy Clin Immunol. 2020. PMID: 32325142 Free article. No abstract available.
102 results