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Long-term remission after allogeneic hematopoietic stem cell transplantation in LPS-responsive beige-like anchor (LRBA) deficiency.
Seidel MG, Hirschmugl T, Gamez-Diaz L, Schwinger W, Serwas N, Deutschmann A, Gorkiewicz G, Zenz W, Windpassinger C, Grimbacher B, Urban C, Boztug K. Seidel MG, et al. J Allergy Clin Immunol. 2015 May;135(5):1384-90.e1-8. doi: 10.1016/j.jaci.2014.10.048. Epub 2014 Dec 22. J Allergy Clin Immunol. 2015. PMID: 25539626 Free PMC article. No abstract available.
Autoimmune lymphoproliferative syndrome-like disease in patients with LRBA mutation.
Revel-Vilk S, Fischer U, Keller B, Nabhani S, Gámez-Díaz L, Rensing-Ehl A, Gombert M, Hönscheid A, Saleh H, Shaag A, Borkhardt A, Grimbacher B, Warnatz K, Elpeleg O, Stepensky P. Revel-Vilk S, et al. Clin Immunol. 2015 Jul;159(1):84-92. doi: 10.1016/j.clim.2015.04.007. Epub 2015 Apr 27. Clin Immunol. 2015. PMID: 25931386
The extended phenotype of LPS-responsive beige-like anchor protein (LRBA) deficiency.
Gámez-Díaz L, August D, Stepensky P, Revel-Vilk S, Seidel MG, Noriko M, Morio T, Worth AJJ, Blessing J, Van de Veerdonk F, Feuchtinger T, Kanariou M, Schmitt-Graeff A, Jung S, Seneviratne S, Burns S, Belohradsky BH, Rezaei N, Bakhtiar S, Speckmann C, Jordan M, Grimbacher B. Gámez-Díaz L, et al. J Allergy Clin Immunol. 2016 Jan;137(1):223-230. doi: 10.1016/j.jaci.2015.09.025. J Allergy Clin Immunol. 2016. PMID: 26768763
Treatment of Infantile Inflammatory Bowel Disease and Autoimmunity by Allogeneic Stem Cell Transplantation in LPS-Responsive Beige-Like Anchor Deficiency.
Bakhtiar S, Gámez-Díaz L, Jarisch A, Soerensen J, Grimbacher B, Belohradsky B, Keller KM, Rietschel C, Klingebiel T, Koletzko S, Albert MH, Bader P. Bakhtiar S, et al. Front Immunol. 2017 Jan 31;8:52. doi: 10.3389/fimmu.2017.00052. eCollection 2017. Front Immunol. 2017. PMID: 28197149 Free PMC article.
Treatment of severe forms of LPS-responsive beige-like anchor protein deficiency with allogeneic hematopoietic stem cell transplantation.
Seidel MG, Böhm K, Dogu F, Worth A, Thrasher A, Florkin B, İkincioğulları A, Peters A, Bakhtiar S, Meeths M, Stepensky P, Meyts I, Sharapova SO, Gámez-Díaz L, Hammarström L, Ehl S, Grimbacher B, Gennery AR; Inborn Errors Working Party of the European Group for Blood and Marrow Transplantation. Seidel MG, et al. J Allergy Clin Immunol. 2018 Feb;141(2):770-775.e1. doi: 10.1016/j.jaci.2017.04.023. Epub 2017 May 10. J Allergy Clin Immunol. 2018. PMID: 28502825 Clinical Trial. No abstract available.
Immunological phenotype of the murine Lrba knockout.
Gámez-Díaz L, Neumann J, Jäger F, Proietti M, Felber F, Soulas-Sprauel P, Perruzza L, Grassi F, Kögl T, Aichele P, Kilimann M, Grimbacher B, Jung S. Gámez-Díaz L, et al. Immunol Cell Biol. 2017 Oct;95(9):789-802. doi: 10.1038/icb.2017.52. Epub 2017 Jul 25. Immunol Cell Biol. 2017. PMID: 28652580
Novel LRBA Mutation and Possible Germinal Mosaicism in a Slavic Family.
Sharapova SO, Haapaniemi E, Sakovich IS, Rojas J, Gámez-Díaz L, Mareika YE, Guryanova IE, Migas AA, Mikhaleuskaya TM, Grimbacher B, Aleinikova OV. Sharapova SO, et al. J Clin Immunol. 2018 May;38(4):471-474. doi: 10.1007/s10875-018-0515-x. Epub 2018 May 26. J Clin Immunol. 2018. PMID: 29804237 No abstract available.
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