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Page 1
Fatal Lymphoproliferative Disease in Two Siblings Lacking Functional FAAP24.
Daschkey S, Bienemann K, Schuster V, Kreth HW, Linka RM, Hönscheid A, Fritz G, Johannes C, Fleckenstein B, Kempkes B, Gombert M, Ginzel S, Borkhardt A. Daschkey S, et al. Among authors: gombert m. J Clin Immunol. 2016 Oct;36(7):684-92. doi: 10.1007/s10875-016-0317-y. Epub 2016 Jul 29. J Clin Immunol. 2016. PMID: 27473539
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: gombert m. 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
Combined immunodeficiency with life-threatening EBV-associated lymphoproliferative disorder in patients lacking functional CD27.
Salzer E, Daschkey S, Choo S, Gombert M, Santos-Valente E, Ginzel S, Schwendinger M, Haas OA, Fritsch G, Pickl WF, Förster-Waldl E, Borkhardt A, Boztug K, Bienemann K, Seidel MG. Salzer E, et al. Among authors: gombert m. Haematologica. 2013 Mar;98(3):473-8. doi: 10.3324/haematol.2012.068791. Epub 2012 Jul 16. Haematologica. 2013. PMID: 22801960 Free PMC article.
STAT3 gain-of-function mutations associated with autoimmune lymphoproliferative syndrome like disease deregulate lymphocyte apoptosis and can be targeted by BH3 mimetic compounds.
Nabhani S, Schipp C, Miskin H, Levin C, Postovsky S, Dujovny T, Koren A, Harlev D, Bis AM, Auer F, Keller B, Warnatz K, Gombert M, Ginzel S, Borkhardt A, Stepensky P, Fischer U. Nabhani S, et al. Among authors: gombert m. Clin Immunol. 2017 Aug;181:32-42. doi: 10.1016/j.clim.2017.05.021. Epub 2017 Jun 1. Clin Immunol. 2017. PMID: 28579554
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: gombert m. Leukemia. 2012 May;26(5):963-71. doi: 10.1038/leu.2011.371. Epub 2012 Jan 6. Leukemia. 2012. PMID: 22289921
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: gombert m. 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.
Human RAD52 - a novel player in DNA repair in cancer and immunodeficiency.
Ghosh S, Hönscheid A, Dückers G, Ginzel S, Gohlke H, Gombert M, Kempkes B, Klapper W, Kuhlen M, Laws HJ, Linka RM, Meisel R, Mielke C, Niehues T, Schindler D, Schneider D, Schuster FR, Speckmann C, Borkhardt A. Ghosh S, et al. Among authors: gombert m. Haematologica. 2017 Feb;102(2):e69-e72. doi: 10.3324/haematol.2016.155838. Epub 2016 Dec 15. Haematologica. 2017. PMID: 27979922 Free PMC article. No abstract available.
Next-generation-sequencing of recurrent childhood high hyperdiploid acute lymphoblastic leukemia reveals mutations typically associated with high risk patients.
Chen C, Bartenhagen C, Gombert M, Okpanyi V, Binder V, Röttgers S, Bradtke J, Teigler-Schlegel A, Harbott J, Ginzel S, Thiele R, Husemann P, Krell PF, Borkhardt A, Dugas M, Hu J, Fischer U. Chen C, et al. Among authors: gombert m. Leuk Res. 2015 Sep;39(9):990-1001. doi: 10.1016/j.leukres.2015.06.005. Epub 2015 Jun 14. Leuk Res. 2015. PMID: 26189108
106 results