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Page 1
B-cell activating factor receptor deficiency is associated with an adult-onset antibody deficiency syndrome in humans.
Warnatz K, Salzer U, Rizzi M, Fischer B, Gutenberger S, Böhm J, Kienzler AK, Pan-Hammarström Q, Hammarström L, Rakhmanov M, Schlesier M, Grimbacher B, Peter HH, Eibel H. Warnatz K, et al. Among authors: rizzi m. Proc Natl Acad Sci U S A. 2009 Aug 18;106(33):13945-50. doi: 10.1073/pnas.0903543106. Epub 2009 Aug 6. Proc Natl Acad Sci U S A. 2009. PMID: 19666484 Free PMC article.
T and B lymphocyte abnormalities in bone marrow biopsies of common variable immunodeficiency.
Ochtrop ML, Goldacker S, May AM, Rizzi M, Draeger R, Hauschke D, Stehfest C, Warnatz K, Goebel H, Technau-Ihling K, Werner M, Salzer U, Eibel H, Schlesier M, Peter HH. Ochtrop ML, et al. Among authors: rizzi m. Blood. 2011 Jul 14;118(2):309-18. doi: 10.1182/blood-2010-11-321695. Epub 2011 May 16. Blood. 2011. PMID: 21576700 Free article.
Genetic CD21 deficiency is associated with hypogammaglobulinemia.
Thiel J, Kimmig L, Salzer U, Grudzien M, Lebrecht D, Hagena T, Draeger R, Voelxen N, Bergbreiter A, Jennings S, Gutenberger S, Aichem A, Illges H, Hannan JP, Kienzler AK, Rizzi M, Eibel H, Peter HH, Warnatz K, Grimbacher B, Rump JA, Schlesier M. Thiel J, et al. Among authors: rizzi m. J Allergy Clin Immunol. 2012 Mar;129(3):801-810.e6. doi: 10.1016/j.jaci.2011.09.027. Epub 2011 Oct 27. J Allergy Clin Immunol. 2012. PMID: 22035880
A common single nucleotide polymorphism impairs B-cell activating factor receptor's multimerization, contributing to common variable immunodeficiency.
Pieper K, Rizzi M, Speletas M, Smulski CR, Sic H, Kraus H, Salzer U, Fiala GJ, Schamel WW, Lougaris V, Plebani A, Hammarstrom L, Recher M, Germenis AE, Grimbacher B, Warnatz K, Rolink AG, Schneider P, Notarangelo LD, Eibel H. Pieper K, et al. Among authors: rizzi m. J Allergy Clin Immunol. 2014 Apr;133(4):1222-5. doi: 10.1016/j.jaci.2013.11.021. Epub 2014 Jan 7. J Allergy Clin Immunol. 2014. PMID: 24406071 No abstract available.
High levels of SOX5 decrease proliferative capacity of human B cells, but permit plasmablast differentiation.
Rakhmanov M, Sic H, Kienzler AK, Fischer B, Rizzi M, Seidl M, Melkaoui K, Unger S, Moehle L, Schmit NE, Deshmukh SD, Ayata CK, Schuh W, Zhang Z, Cosset FL, Verhoeyen E, Peter HH, Voll RE, Salzer U, Eibel H, Warnatz K. Rakhmanov M, et al. Among authors: rizzi m. PLoS One. 2014 Jun 19;9(6):e100328. doi: 10.1371/journal.pone.0100328. eCollection 2014. PLoS One. 2014. PMID: 24945754 Free PMC 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: rizzi m. 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.
Multicenter experience in hematopoietic stem cell transplantation for serious complications of common variable immunodeficiency.
Wehr C, Gennery AR, Lindemans C, Schulz A, Hoenig M, Marks R, Recher M, Gruhn B, Holbro A, Heijnen I, Meyer D, Grigoleit G, Einsele H, Baumann U, Witte T, Sykora KW, Goldacker S, Regairaz L, Aksoylar S, Ardeniz Ö, Zecca M, Zdziarski P, Meyts I, Matthes-Martin S, Imai K, Kamae C, Fielding A, Seneviratne S, Mahlaoui N, Slatter MA, Güngör T, Arkwright PD, van Montfrans J, Sullivan KE, Grimbacher B, Cant A, Peter HH, Finke J, Gaspar HB, Warnatz K, Rizzi M; Inborn Errors Working Party of the European Society for Blood and Marrow Transplantation and the European Society for Immunodeficiency. Wehr C, et al. Among authors: rizzi m. J Allergy Clin Immunol. 2015 Apr;135(4):988-997.e6. doi: 10.1016/j.jaci.2014.11.029. Epub 2015 Jan 14. J Allergy Clin Immunol. 2015. PMID: 25595268
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: rizzi m. 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.
878 results