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Page 1
X-linked inhibitor of apoptosis (XIAP) deficiency: the spectrum of presenting manifestations beyond hemophagocytic lymphohistiocytosis.
Speckmann C, Lehmberg K, Albert MH, Damgaard RB, Fritsch M, Gyrd-Hansen M, Rensing-Ehl A, Vraetz T, Grimbacher B, Salzer U, Fuchs I, Ufheil H, Belohradsky BH, Hassan A, Cale CM, Elawad M, Strahm B, Schibli S, Lauten M, Kohl M, Meerpohl JJ, Rodeck B, Kolb R, Eberl W, Soerensen J, von Bernuth H, Lorenz M, Schwarz K, Zur Stadt U, Ehl S. Speckmann C, et al. Clin Immunol. 2013 Oct;149(1):133-41. doi: 10.1016/j.clim.2013.07.004. Epub 2013 Jul 31. Clin Immunol. 2013. PMID: 23973892
Abnormally differentiated CD4+ or CD8+ T cells with phenotypic and genetic features of double negative T cells in human Fas deficiency.
Rensing-Ehl A, Völkl S, Speckmann C, Lorenz MR, Ritter J, Janda A, Abinun M, Pircher H, Bengsch B, Thimme R, Fuchs I, Ammann S, Allgäuer A, Kentouche K, Cant A, Hambleton S, Bettoni da Cunha C, Huetker S, Kühnle I, Pekrun A, Seidel MG, Hummel M, Mackensen A, Schwarz K, Ehl S. Rensing-Ehl A, et al. Among authors: lorenz mr. Blood. 2014 Aug 7;124(6):851-60. doi: 10.1182/blood-2014-03-564286. Epub 2014 Jun 3. Blood. 2014. PMID: 24894771 Free article.
Patients with T⁺/low NK⁺ IL-2 receptor γ chain deficiency have differentially-impaired cytokine signaling resulting in severe combined immunodeficiency.
Fuchs S, Rensing-Ehl A, Erlacher M, Vraetz T, Hartjes L, Janda A, Rizzi M, Lorenz MR, Gilmour K, de Saint-Basile G, Roifman CM, Cheuk S, Gennery A, Thrasher AJ, Fuchs I, Schwarz K, Speckmann C, Ehl S. Fuchs S, et al. Among authors: lorenz mr. Eur J Immunol. 2014 Oct;44(10):3129-40. doi: 10.1002/eji.201444689. Epub 2014 Aug 28. Eur J Immunol. 2014. PMID: 25042067 Free 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.
Disturbed B-lymphocyte selection in autoimmune lymphoproliferative syndrome.
Janda A, Schwarz K, van der Burg M, Vach W, Ijspeert H, Lorenz MR, Elgizouli M, Pieper K, Fisch P, Hagel J, Lorenzetti R, Seidl M, Roesler J, Hauck F, Traggiai E, Speckmann C, Rensing-Ehl A, Ehl S, Eibel H, Rizzi M. Janda A, et al. Among authors: lorenz mr. Blood. 2016 May 5;127(18):2193-202. doi: 10.1182/blood-2015-04-642488. Epub 2016 Feb 23. Blood. 2016. PMID: 26907631 Free article.
Hyperactive mTOR pathway promotes lymphoproliferation and abnormal differentiation in autoimmune lymphoproliferative syndrome.
Völkl S, Rensing-Ehl A, Allgäuer A, Schreiner E, Lorenz MR, Rohr J, Klemann C, Fuchs I, Schuster V, von Bueren AO, Naumann-Bartsch N, Gambineri E, Siepermann K, Kobbe R, Nathrath M, Arkwright PD, Miano M, Stachel KD, Metzler M, Schwarz K, Kremer AN, Speckmann C, Ehl S, Mackensen A. Völkl S, et al. Among authors: lorenz mr. Blood. 2016 Jul 14;128(2):227-38. doi: 10.1182/blood-2015-11-685024. Epub 2016 Apr 20. Blood. 2016. PMID: 27099149 Free article. Clinical Trial.
55 results