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Early-onset pulmonary and cutaneous vasculitis driven by constitutively active SRC-family kinase HCK.
Kanderova V, Svobodova T, Borna S, Fejtkova M, Martinu V, Paderova J, Svaton M, Kralova J, Fronkova E, Klocperk A, Pruhova S, Lee-Kirsch MA, Hornofova L, Koblizek M, Novak P, Zimmermannova O, Parackova Z, Sediva A, Kalina T, Janda A, Kayserova J, Dvorakova M, Macek M, Pohunek P, Sedlacek P, Poh A, Ernst M, Brdicka T, Hrusak O, Lebl J. Kanderova V, et al. J Allergy Clin Immunol. 2022 Apr;149(4):1464-1472.e3. doi: 10.1016/j.jaci.2021.07.046. Epub 2021 Sep 15. J Allergy Clin Immunol. 2022. PMID: 34536415
Transition for adolescents with a rare disease: results of a nationwide German project.
Grasemann C, Höppner J, Burgard P, Schündeln MM, Matar N, Müller G, Krude H, Berner R, Lee-Kirsch MA, Hauck F, Wainwright K, Baumgarten S, Atinga J, Bauer JJ, Manka E, Körholz J, Kiewert C, Heinen A, Kretschmer T, Kurth T, Mittnacht J, Schramm C, Klein C, Graessner H, Hiort O, Muntau AC, Grüters A, Hoffmann GF, Choukair D. Grasemann C, et al. Orphanet J Rare Dis. 2023 Apr 25;18(1):93. doi: 10.1186/s13023-023-02698-2. Orphanet J Rare Dis. 2023. PMID: 37098531 Free PMC article.
Multiple sclerosis-like lesions and type I interferon signature in a patient with RVCL.
Schuh E, Ertl-Wagner B, Lohse P, Wolf W, Mann JF, Lee-Kirsch MA, Hohlfeld R, Kümpfel T. Schuh E, et al. Neurol Neuroimmunol Neuroinflamm. 2014 Dec 23;2(1):e55. doi: 10.1212/NXI.0000000000000055. eCollection 2015 Feb. Neurol Neuroimmunol Neuroinflamm. 2014. PMID: 25566545 Free PMC article. No abstract available.
A functional IL-6 receptor (IL6R) variant is a risk factor for persistent atopic dermatitis.
Esparza-Gordillo J, Schaarschmidt H, Liang L, Cookson W, Bauerfeind A, Lee-Kirsch MA, Nemat K, Henderson J, Paternoster L, Harper JI, Mangold E, Nothen MM, Rüschendorf F, Kerscher T, Marenholz I, Matanovic A, Lau S, Keil T, Bauer CP, Kurek M, Ciechanowicz A, Macek M, Franke A, Kabesch M, Hubner N, Abecasis G, Weidinger S, Moffatt M, Lee YA. Esparza-Gordillo J, et al. J Allergy Clin Immunol. 2013 Aug;132(2):371-7. doi: 10.1016/j.jaci.2013.01.057. Epub 2013 Apr 9. J Allergy Clin Immunol. 2013. PMID: 23582566
Hemophagocytic lymphohistiocytosis-like hyperinflammation due to a de novo mutation in DPP9.
Wolf C, Fischer H, Kühl JS, Koss S, Jamra RA, Starke S, Schultz J, Ehl S, Neumann K, Schuetz C, Huber R, Hornung V, Lee-Kirsch MA. Wolf C, et al. Among authors: lee kirsch ma. J Allergy Clin Immunol. 2023 Nov;152(5):1336-1344.e5. doi: 10.1016/j.jaci.2023.07.013. Epub 2023 Aug 5. J Allergy Clin Immunol. 2023. PMID: 37544411 Free PMC article.
A product of immunoreactive trypsinogen and pancreatitis-associated protein as second-tier strategy in cystic fibrosis newborn screening.
Weidler S, Stopsack KH, Hammermann J, Sommerburg O, Mall MA, Hoffmann GF, Kohlmüller D, Okun JG, Macek M Jr, Votava F, Krulišová V, Balaščaková M, Skalická V, Lee-Kirsch MA, Stopsack M. Weidler S, et al. J Cyst Fibros. 2016 Nov;15(6):752-758. doi: 10.1016/j.jcf.2016.07.002. Epub 2016 Jul 22. J Cyst Fibros. 2016. PMID: 27461140 Free article.
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.
Curative Treatment of POMP-Related Autoinflammation and Immune Dysregulation (PRAID) by Hematopoietic Stem Cell Transplantation.
Meinhardt A, Ramos PC, Dohmen RJ, Lucas N, Lee-Kirsch MA, Becker B, de Laffolie J, Cunha T, Niehues T, Salzer U, Yoshimi A, Erlacher M, Peters AMJ, Ehl S, Strahm B, Speckmann C. Meinhardt A, et al. J Clin Immunol. 2021 Oct;41(7):1664-1667. doi: 10.1007/s10875-021-01067-7. Epub 2021 Jun 16. J Clin Immunol. 2021. PMID: 34131834 Free PMC article. No abstract available.
102 results