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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.
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.
Deficiency of innate and acquired immunity caused by an IKBKB mutation.
Pannicke U, Baumann B, Fuchs S, Henneke P, Rensing-Ehl A, Rizzi M, Janda A, Hese K, Schlesier M, Holzmann K, Borte S, Laux C, Rump EM, Rosenberg A, Zelinski T, Schrezenmeier H, Wirth T, Ehl S, Schroeder ML, Schwarz K. Pannicke U, et al. Among authors: rizzi m. N Engl J Med. 2013 Dec 26;369(26):2504-14. doi: 10.1056/NEJMoa1309199. N Engl J Med. 2013. PMID: 24369075 Free article.
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.
Early-onset inflammatory bowel disease and common variable immunodeficiency-like disease caused by IL-21 deficiency.
Salzer E, Kansu A, Sic H, Májek P, Ikincioğullari A, Dogu FE, Prengemann NK, Santos-Valente E, Pickl WF, Bilic I, Ban SA, Kuloğlu Z, Demir AM, Ensari A, Colinge J, Rizzi M, Eibel H, Boztug K. Salzer E, et al. Among authors: rizzi m. J Allergy Clin Immunol. 2014 Jun;133(6):1651-9.e12. doi: 10.1016/j.jaci.2014.02.034. Epub 2014 Apr 17. J Allergy Clin Immunol. 2014. PMID: 24746753
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
DCLRE1C (ARTEMIS) mutations causing phenotypes ranging from atypical severe combined immunodeficiency to mere antibody deficiency.
Volk T, Pannicke U, Reisli I, Bulashevska A, Ritter J, Björkman A, Schäffer AA, Fliegauf M, Sayar EH, Salzer U, Fisch P, Pfeifer D, Di Virgilio M, Cao H, Yang F, Zimmermann K, Keles S, Caliskaner Z, Güner SÜ, Schindler D, Hammarström L, Rizzi M, Hummel M, Pan-Hammarström Q, Schwarz K, Grimbacher B. Volk T, et al. Among authors: rizzi m. Hum Mol Genet. 2015 Dec 20;24(25):7361-72. doi: 10.1093/hmg/ddv437. Epub 2015 Oct 16. Hum Mol Genet. 2015. PMID: 26476407 Free PMC article.
866 results