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Compound heterozygous variants in OTULIN are associated with fulminant atypical late-onset ORAS.
Zinngrebe J, Moepps B, Monecke T, Gierschik P, Schlichtig F, Barth TFE, Strauß G, Boldrin E, Posovszky C, Schulz A, Beringer O, Rieser E, Jacobsen EM, Lorenz MR, Schwarz K, Pannicke U, Walczak H, Niessing D, Schuetz C, Fischer-Posovszky P, Debatin KM. Zinngrebe J, et al. Among authors: lorenz mr. EMBO Mol Med. 2022 Mar 7;14(3):e14901. doi: 10.15252/emmm.202114901. Epub 2022 Feb 16. EMBO Mol Med. 2022. PMID: 35170849 Free PMC article.
Omenn syndrome associated with a functional reversion due to a somatic second-site mutation in CARD11 deficiency.
Fuchs S, Rensing-Ehl A, Pannicke U, Lorenz MR, Fisch P, Jeelall Y, Rohr J, Speckmann C, Vraetz T, Farmand S, Schmitt-Graeff A, Krüger M, Strahm B, Henneke P, Enders A, Horikawa K, Goodnow C, Schwarz K, Ehl S. Fuchs S, et al. Among authors: lorenz mr. Blood. 2015 Oct 1;126(14):1658-69. doi: 10.1182/blood-2015-03-631374. Epub 2015 Aug 19. Blood. 2015. PMID: 26289640 Free PMC article.
Gray platelet syndrome can mimic autoimmune lymphoproliferative syndrome.
Rensing-Ehl A, Pannicke U, Zimmermann SY, Lorenz MR, Neven B, Fuchs I, Salzer U, Speckmann C, Strauss A, Maaβ E, Collet B, Enders A, Favier R, Alessi MC, Rieux-Laucat F, Zieger B, Schwarz K, Ehl S. Rensing-Ehl A, et al. Among authors: lorenz mr. Blood. 2015 Oct 15;126(16):1967-9. doi: 10.1182/blood-2015-06-654145. Blood. 2015. PMID: 26472737 Free PMC article. Clinical Trial. No abstract available.
Bone marrow failure unresponsive to bone marrow transplant is caused by mutations in thrombopoietin.
Seo A, Ben-Harosh M, Sirin M, Stein J, Dgany O, Kaplelushnik J, Hoenig M, Pannicke U, Lorenz M, Schwarz K, Stockklausner C, Walsh T, Gulsuner S, Lee MK, Sendamarai A, Sanchez-Bonilla M, King MC, Cario H, Kulozik AE, Debatin KM, Schulz A, Tamary H, Shimamura A. Seo A, et al. Blood. 2017 Aug 17;130(7):875-880. doi: 10.1182/blood-2017-02-768036. Epub 2017 May 30. Blood. 2017. PMID: 28559357 Free PMC article.
Impaired polysaccharide responsiveness without agammaglobulinaemia in three patients with hypomorphic mutations in Bruton Tyrosine Kinase-No detection by newborn screening for primary immunodeficiencies.
Krüger R, Baumann U, Borte S, Kölsch U, Lorenz MR, Keller B, Harder I, Warnatz K, Ehl S, Schwarz K, Wahn V, von Bernuth H. Krüger R, et al. Among authors: lorenz mr. Scand J Immunol. 2020 Jan;91(1):e12811. doi: 10.1111/sji.12811. Epub 2019 Oct 30. Scand J Immunol. 2020. PMID: 31378960 Free article.
T Cell Impairment Is Predictive for a Severe Clinical Course in NEMO Deficiency.
Heller S, Kölsch U, Magg T, Krüger R, Scheuern A, Schneider H, Eichinger A, Wahn V, Unterwalder N, Lorenz M, Schwarz K, Meisel C, Schulz A, Hauck F, von Bernuth H. Heller S, et al. J Clin Immunol. 2020 Apr;40(3):421-434. doi: 10.1007/s10875-019-00728-y. Epub 2020 Jan 21. J Clin Immunol. 2020. PMID: 31965418
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