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180 results

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Page 1
Next-generation-sequencing-spectratyping reveals public T-cell receptor repertoires in pediatric very severe aplastic anemia and identifies a β chain CDR3 sequence associated with hepatitis-induced pathogenesis.
Krell PF, Reuther S, Fischer U, Keller T, Weber S, Gombert M, Schuster FR, Asang C, Stepensky P, Strahm B, Meisel R, Stoye J, Borkhardt A. Krell PF, et al. Among authors: stepensky p. Haematologica. 2013 Sep;98(9):1388-96. doi: 10.3324/haematol.2012.069708. Epub 2013 May 28. Haematologica. 2013. PMID: 23716544 Free PMC article.
Loss-of-function mutations within the IL-2 inducible kinase ITK in patients with EBV-associated lymphoproliferative diseases.
Linka RM, Risse SL, Bienemann K, Werner M, Linka Y, Krux F, Synaeve C, Deenen R, Ginzel S, Dvorsky R, Gombert M, Halenius A, Hartig R, Helminen M, Fischer A, Stepensky P, Vettenranta K, Köhrer K, Ahmadian MR, Laws HJ, Fleckenstein B, Jumaa H, Latour S, Schraven B, Borkhardt A. Linka RM, et al. Among authors: stepensky p. Leukemia. 2012 May;26(5):963-71. doi: 10.1038/leu.2011.371. Epub 2012 Jan 6. Leukemia. 2012. PMID: 22289921
The Thr224Asn mutation in the VPS45 gene is associated with the congenital neutropenia and primary myelofibrosis of infancy.
Stepensky P, Saada A, Cowan M, Tabib A, Fischer U, Berkun Y, Saleh H, Simanovsky N, Kogot-Levin A, Weintraub M, Ganaiem H, Shaag A, Zenvirt S, Borkhardt A, Elpeleg O, Bryant NJ, Mevorach D. Stepensky P, et al. Blood. 2013 Jun 20;121(25):5078-87. doi: 10.1182/blood-2012-12-475566. Epub 2013 Apr 18. Blood. 2013. PMID: 23599270 Free article.
Inherited susceptibility to pre B-ALL caused by germline transmission of PAX5 c.547G>A.
Auer F, Rüschendorf F, Gombert M, Husemann P, Ginzel S, Izraeli S, Harit M, Weintraub M, Weinstein OY, Lerer I, Stepensky P, Borkhardt A, Hauer J. Auer F, et al. Among authors: stepensky p. Leukemia. 2014 May;28(5):1136-8. doi: 10.1038/leu.2013.363. Epub 2013 Nov 29. Leukemia. 2014. PMID: 24287434 No abstract available.
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.
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. Among authors: stepensky p. 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
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.
Specific antibody deficiency and autoinflammatory disease extend the clinical and immunological spectrum of heterozygous NFKB1 loss-of-function mutations in humans.
Schipp C, Nabhani S, Bienemann K, Simanovsky N, Kfir-Erenfeld S, Assayag-Asherie N, Oommen PT, Revel-Vilk S, Hönscheid A, Gombert M, Ginzel S, Schäfer D, Laws HJ, Yefenof E, Fleckenstein B, Borkhardt A, Stepensky P, Fischer U. Schipp C, et al. Among authors: stepensky p. Haematologica. 2016 Oct;101(10):e392-e396. doi: 10.3324/haematol.2016.145136. Epub 2016 Jun 30. Haematologica. 2016. PMID: 27365489 Free PMC article. No abstract available.
180 results