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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: fleckenstein b. 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
A novel homozygous Fas ligand mutation leads to early protein truncation, abrogation of death receptor and reverse signaling and a severe form of the autoimmune lymphoproliferative syndrome.
Nabhani S, Hönscheid A, Oommen PT, Fleckenstein B, Schaper J, Kuhlen M, Laws HJ, Borkhardt A, Fischer U. Nabhani S, et al. Among authors: fleckenstein b. Clin Immunol. 2014 Dec;155(2):231-7. doi: 10.1016/j.clim.2014.10.006. Epub 2014 Oct 24. Clin Immunol. 2014. PMID: 25451160
EBV Negative Lymphoma and Autoimmune Lymphoproliferative Syndrome Like Phenotype Extend the Clinical Spectrum of Primary Immunodeficiency Caused by STK4 Deficiency.
Schipp C, Schlütermann D, Hönscheid A, Nabhani S, Höll J, Oommen PT, Ginzel S, Fleckenstein B, Stork B, Borkhardt A, Stepensky P, Fischer U. Schipp C, et al. Among authors: fleckenstein b. Front Immunol. 2018 Oct 16;9:2400. doi: 10.3389/fimmu.2018.02400. eCollection 2018. Front Immunol. 2018. PMID: 30386345 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: fleckenstein b. 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.
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: fleckenstein b. 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: fleckenstein b. 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.
Hypomorphic homozygous mutations in phosphoglucomutase 3 (PGM3) impair immunity and increase serum IgE levels.
Sassi A, Lazaroski S, Wu G, Haslam SM, Fliegauf M, Mellouli F, Patiroglu T, Unal E, Ozdemir MA, Jouhadi Z, Khadir K, Ben-Khemis L, Ben-Ali M, Ben-Mustapha I, Borchani L, Pfeifer D, Jakob T, Khemiri M, Asplund AC, Gustafsson MO, Lundin KE, Falk-Sörqvist E, Moens LN, Gungor HE, Engelhardt KR, Dziadzio M, Stauss H, Fleckenstein B, Meier R, Prayitno K, Maul-Pavicic A, Schaffer S, Rakhmanov M, Henneke P, Kraus H, Eibel H, Kölsch U, Nadifi S, Nilsson M, Bejaoui M, Schäffer AA, Smith CI, Dell A, Barbouche MR, Grimbacher B. Sassi A, et al. Among authors: fleckenstein b. J Allergy Clin Immunol. 2014 May;133(5):1410-9, 1419.e1-13. doi: 10.1016/j.jaci.2014.02.025. Epub 2014 Apr 1. J Allergy Clin Immunol. 2014. PMID: 24698316 Free PMC article. Clinical Trial.
A recessive form of hyper-IgE syndrome by disruption of ZNF341-dependent STAT3 transcription and activity.
Béziat V, Li J, Lin JX, Ma CS, Li P, Bousfiha A, Pellier I, Zoghi S, Baris S, Keles S, Gray P, Du N, Wang Y, Zerbib Y, Lévy R, Leclercq T, About F, Lim AI, Rao G, Payne K, Pelham SJ, Avery DT, Deenick EK, Pillay B, Chou J, Guery R, Belkadi A, Guérin A, Migaud M, Rattina V, Ailal F, Benhsaien I, Bouaziz M, Habib T, Chaussabel D, Marr N, El-Benna J, Grimbacher B, Wargon O, Bustamante J, Boisson B, Müller-Fleckenstein I, Fleckenstein B, Chandesris MO, Titeux M, Fraitag S, Alyanakian MA, Leruez-Ville M, Picard C, Meyts I, Di Santo JP, Hovnanian A, Somer A, Ozen A, Rezaei N, Chatila TA, Abel L, Leonard WJ, Tangye SG, Puel A, Casanova JL. Béziat V, et al. Among authors: fleckenstein b. Sci Immunol. 2018 Jun 15;3(24):eaat4956. doi: 10.1126/sciimmunol.aat4956. Sci Immunol. 2018. PMID: 29907691 Free PMC article.
302 results