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985 results

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A partial human LCK defect causes a T cell immunodeficiency with intestinal inflammation.
Lui VG, Hoenig M, Cabrera-Martinez B, Baxter RM, Garcia-Perez JE, Bailey O, Acharya A, Lundquist K, Capera J, Matusewicz P, Hartl FA, D'Abramo M, Alba J, Jacobsen EM, Niewolik D, Lorenz M, Pannicke U, Schulz AS, Debatin KM, Schamel WW, Minguet S, Gumbart JC, Dustin ML, Cambier JC, Schwarz K, Hsieh EWY. Lui VG, et al. Among authors: lorenz m. J Exp Med. 2024 Jan 1;221(1):e20230927. doi: 10.1084/jem.20230927. Epub 2023 Nov 14. J Exp Med. 2024. PMID: 37962568 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. 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. Among authors: lorenz m. 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. 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. Among authors: lorenz m. 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
985 results