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Page 1
The syndrome of hemophagocytic lymphohistiocytosis in primary immunodeficiencies: implications for differential diagnosis and pathogenesis.
Bode SF, Ammann S, Al-Herz W, Bataneant M, Dvorak CC, Gehring S, Gennery A, Gilmour KC, Gonzalez-Granado LI, Groß-Wieltsch U, Ifversen M, Lingman-Framme J, Matthes-Martin S, Mesters R, Meyts I, van Montfrans JM, Pachlopnik Schmid J, Pai SY, Soler-Palacin P, Schuermann U, Schuster V, Seidel MG, Speckmann C, Stepensky P, Sykora KW, Tesi B, Vraetz T, Waruiru C, Bryceson YT, Moshous D, Lehmberg K, Jordan MB, Ehl S; Inborn Errors Working Party of the EBMT. Bode SF, et al. Among authors: stepensky p. Haematologica. 2015 Jul;100(7):978-88. doi: 10.3324/haematol.2014.121608. Epub 2015 May 28. Haematologica. 2015. PMID: 26022711 Free PMC article.
Persistent defective membrane trafficking in epithelial cells of patients with familial hemophagocytic lymphohistiocytosis type 5 due to STXBP2/MUNC18-2 mutations.
Stepensky P, Bartram J, Barth TF, Lehmberg K, Walther P, Amann K, Philips AD, Beringer O, Zur Stadt U, Schulz A, Amrolia P, Weintraub M, Debatin KM, Hoenig M, Posovszky C. Stepensky P, et al. Pediatr Blood Cancer. 2013 Jul;60(7):1215-22. doi: 10.1002/pbc.24475. Epub 2013 Feb 4. Pediatr Blood Cancer. 2013. PMID: 23382066
Reduced-intensity conditioning and HLA-matched haemopoietic stem-cell transplantation in patients with chronic granulomatous disease: a prospective multicentre study.
Güngör T, Teira P, Slatter M, Stussi G, Stepensky P, Moshous D, Vermont C, Ahmad I, Shaw PJ, Telles da Cunha JM, Schlegel PG, Hough R, Fasth A, Kentouche K, Gruhn B, Fernandes JF, Lachance S, Bredius R, Resnick IB, Belohradsky BH, Gennery A, Fischer A, Gaspar HB, Schanz U, Seger R, Rentsch K, Veys P, Haddad E, Albert MH, Hassan M; Inborn Errors Working Party of the European Society for Blood and Marrow Transplantation. Güngör T, et al. Among authors: stepensky p. Lancet. 2014 Feb 1;383(9915):436-48. doi: 10.1016/S0140-6736(13)62069-3. Epub 2013 Oct 23. Lancet. 2014. PMID: 24161820 Clinical Trial.
Early-onset Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency.
Stepensky P, Rensing-Ehl A, Gather R, Revel-Vilk S, Fischer U, Nabhani S, Beier F, Brümmendorf TH, Fuchs S, Zenke S, Firat E, Pessach VM, Borkhardt A, Rakhmanov M, Keller B, Warnatz K, Eibel H, Niedermann G, Elpeleg O, Ehl S. Stepensky P, et al. Blood. 2015 Jan 29;125(5):753-61. doi: 10.1182/blood-2014-08-593202. Epub 2014 Nov 20. Blood. 2015. PMID: 25414442 Free PMC article.
Deregulation of Fas ligand expression as a novel cause of autoimmune lymphoproliferative syndrome-like disease.
Nabhani S, Ginzel S, Miskin H, Revel-Vilk S, Harlev D, Fleckenstein B, Hönscheid A, Oommen PT, Kuhlen M, Thiele R, Laws HJ, Borkhardt A, Stepensky P, Fischer U. Nabhani S, et al. Among authors: stepensky p. Haematologica. 2015 Sep;100(9):1189-98. doi: 10.3324/haematol.2014.114967. Epub 2015 Jun 25. Haematologica. 2015. PMID: 26113417 Free PMC article. Clinical Trial.
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. Among authors: stepensky p. 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
A prospective study on the natural history of patients with profound combined immunodeficiency: An interim analysis.
Speckmann C, Doerken S, Aiuti A, Albert MH, Al-Herz W, Allende LM, Scarselli A, Avcin T, Perez-Becker R, Cancrini C, Cant A, Di Cesare S, Finocchi A, Fischer A, Gaspar HB, Ghosh S, Gennery A, Gilmour K, González-Granado LI, Martinez-Gallo M, Hambleton S, Hauck F, Hoenig M, Moshous D, Neven B, Niehues T, Notarangelo L, Picard C, Rieber N, Schulz A, Schwarz K, Seidel MG, Soler-Palacin P, Stepensky P, Strahm B, Vraetz T, Warnatz K, Winterhalter C, Worth A, Fuchs S, Uhlmann A, Ehl S; P-CID study of the Inborn Errors Working Party of the EBMT. Speckmann C, et al. Among authors: stepensky p. J Allergy Clin Immunol. 2017 Apr;139(4):1302-1310.e4. doi: 10.1016/j.jaci.2016.07.040. Epub 2016 Sep 19. J Allergy Clin Immunol. 2017. PMID: 27658761 Free PMC article.
Reticular dysgenesis: international survey on clinical presentation, transplantation, and outcome.
Hoenig M, Lagresle-Peyrou C, Pannicke U, Notarangelo LD, Porta F, Gennery AR, Slatter M, Cowan MJ, Stepensky P, Al-Mousa H, Al-Zahrani D, Pai SY, Al Herz W, Gaspar HB, Veys P, Oshima K, Imai K, Yabe H, Noroski LM, Wulffraat NM, Sykora KW, Soler-Palacin P, Muramatsu H, Al Hilali M, Moshous D, Debatin KM, Schuetz C, Jacobsen EM, Schulz AS, Schwarz K, Fischer A, Friedrich W, Cavazzana M; European Society for Blood and Marrow Transplantation (EBMT) Inborn Errors Working Party. Hoenig M, et al. Among authors: stepensky p. Blood. 2017 May 25;129(21):2928-2938. doi: 10.1182/blood-2016-11-745638. Epub 2017 Mar 22. Blood. 2017. PMID: 28331055 Free PMC article. Clinical Trial.
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. Among authors: stepensky p. 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.
174 results