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Single amino acid charge switch defines clinically distinct proline-serine-threonine phosphatase-interacting protein 1 (PSTPIP1)-associated inflammatory diseases.
Holzinger D, Fassl SK, de Jager W, Lohse P, Röhrig UF, Gattorno M, Omenetti A, Chiesa S, Schena F, Austermann J, Vogl T, Kuhns DB, Holland SM, Rodríguez-Gallego C, López-Almaraz R, Arostegui JI, Colino E, Roldan R, Fessatou S, Isidor B, Poignant S, Ito K, Epple HJ, Bernstein JA, Jeng M, Frankovich J, Lionetti G, Church JA, Ong PY, LaPlant M, Abinun M, Skinner R, Bigley V, Sachs UJ, Hinze C, Hoppenreijs E, Ehrchen J, Foell D, Chae JJ, Ombrello A, Aksentijevich I, Sunderkoetter C, Roth J. Holzinger D, et al. Among authors: sachs uj. J Allergy Clin Immunol. 2015 Nov;136(5):1337-45. doi: 10.1016/j.jaci.2015.04.016. Epub 2015 May 27. J Allergy Clin Immunol. 2015. PMID: 26025129 Free PMC article.
Incidental diagnosis of leukocyte adhesion deficiency type II following ABO typing.
Cooper N, Li YT, Möller A, Schulz-Weidner N, Sachs UJ, Wagner F, Hackstein H, Wienzek-Lischka S, Grüneberg M, Wild MK, Bein G, Marquardt T. Cooper N, et al. Among authors: sachs uj. Clin Immunol. 2020 Dec;221:108599. doi: 10.1016/j.clim.2020.108599. Epub 2020 Sep 28. Clin Immunol. 2020. PMID: 32992000
156 results