Kühnle, Ingrid

[["dc.bibliographiccitation.firstpage","851"],["dc.bibliographiccitation.issue","6"],["dc.bibliographiccitation.journal","Blood"],["dc.bibliographiccitation.lastpage","860"],["dc.bibliographiccitation.volume","124"],["dc.contributor.author","Rensing-Ehl, Anne"],["dc.contributor.author","Voelkl, Simon"],["dc.contributor.author","Speckmann, Carsten"],["dc.contributor.author","Lorenz, Myriam Ricarda"],["dc.contributor.author","Ritter, Julia"],["dc.contributor.author","Janda, Ales"],["dc.contributor.author","Abinun, Mario"],["dc.contributor.author","Pircher, Hanspeter"],["dc.contributor.author","Bengsch, Bertram"],["dc.contributor.author","Thimme, Robert"],["dc.contributor.author","Fuchs, Ilka"],["dc.contributor.author","Ammann, Sandra"],["dc.contributor.author","Allgaeuer, Andrea"],["dc.contributor.author","Kentouche, Karim"],["dc.contributor.author","Cant, Andrew"],["dc.contributor.author","Hambleton, Sophie"],["dc.contributor.author","da Cunha, Claudia Bettoni"],["dc.contributor.author","Huetker, Sebastian"],["dc.contributor.author","Kuehnle, Ingrid"],["dc.contributor.author","Pekrun, Arnulf"],["dc.contributor.author","Seidel, Markus G."],["dc.contributor.author","Hummel, Michael"],["dc.contributor.author","Mackensen, Andreas"],["dc.contributor.author","Schwarz, Klaus"],["dc.contributor.author","Ehl, Stephan"],["dc.date.accessioned","2018-11-07T09:36:42Z"],["dc.date.available","2018-11-07T09:36:42Z"],["dc.date.issued","2014"],["dc.description.abstract","Accumulation of CD3(+) T-cell receptor (TCR)alpha beta(+)CD4(-)CD8(-) double-negative T cells(DNT) is a hallmark of autoimmune lymphoproliferative syndrome (ALPS). DNT origin and differentiation pathways remain controversial. Here we show that human ALPS DNT have features of terminally differentiated effector memory T cells reexpressing CD45RA(+) (TEMRA), but are CD27(+)CD28(+)KLRG1(-) and do not express the transcription factor T-bet. This unique phenotype was also detected among CD4(+) or CD8(+) ALPS TEMRA cells. T-cell receptor beta deep sequencing revealed a significant fraction of shared CDR3 sequences between ALPS DNT and both CD4(+) and CD8(+) TEMRA cells. Moreover, in ALPS patients with a germ line FAS mutation and somatic loss of heterozygosity, in whom biallelic mutant cells can be tracked by absent Fas expression, Fas-negative T cells accumulated not only among DNT, but also among CD4(+) and CD8(+)TEMRA cells. These data indicate that in human Fas deficiency DNT cannot only derive from CD8(+), but also from CD4(+) T cells. Furthermore, defective Fas signaling leads to aberrant transcriptional programs and differentiation of subsets of CD4(+) and CD8(+) T cells. Accumulation of these cells before their double-negative state appears to be an important early event in the pathogenesis of lymphoproliferation in ALPS patients."],["dc.identifier.doi","10.1182/blood-2014-03-564286"],["dc.identifier.isi","000342620400012"],["dc.identifier.pmid","24894771"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/32677"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","Amer Soc Hematology"],["dc.relation.issn","1528-0020"],["dc.relation.issn","0006-4971"],["dc.title","Abnormally differentiated CD4(+) or CD8(+) T cells with phenotypic and genetic features of double negative T cells in human Fas deficiency"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.status","published"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.journal","Journal of Clinical Immunology"],["dc.bibliographiccitation.volume","34"],["dc.contributor.author","Rensing-Ehl, Anne"],["dc.contributor.author","Voelkl, Simon"],["dc.contributor.author","Speckmann, Carsten"],["dc.contributor.author","Lorenz, Myriam Ricarda"],["dc.contributor.author","Ritter, J."],["dc.contributor.author","Janda, Ales"],["dc.contributor.author","Abinun, Mario"],["dc.contributor.author","Pircher, Hanspeter"],["dc.contributor.author","Bengsch, B."],["dc.contributor.author","Thimme, Robert"],["dc.contributor.author","Fuchs, Ilka"],["dc.contributor.author","Ammann, Sandra"],["dc.contributor.author","Allgaeuer, Andrea"],["dc.contributor.author","Kentouche, Karim"],["dc.contributor.author","Cant, A."],["dc.contributor.author","Hambleton, Sophie"],["dc.contributor.author","da Cunha, Claudia Bettoni"],["dc.contributor.author","Huetker, Sebastian"],["dc.contributor.author","Kuehnle, Ingrid"],["dc.contributor.author","Pekrun, Arnulf"],["dc.contributor.author","Seidel, Markus G."],["dc.contributor.author","Hummel, Michael"],["dc.contributor.author","Mackensen, Andreas"],["dc.contributor.author","Schwarz, K."],["dc.contributor.author","Ehl, Stephan"],["dc.date.accessioned","2018-11-07T09:33:54Z"],["dc.date.available","2018-11-07T09:33:54Z"],["dc.date.issued","2014"],["dc.format.extent","S165"],["dc.identifier.isi","000347389100046"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/32064"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","Springer"],["dc.publisher.place","New york"],["dc.relation.conference","16th Biennial Meeting of the European-Society-for-Immunodeficiencies"],["dc.relation.eventlocation","Prague, CZECH REPUBLIC"],["dc.relation.issn","1573-2592"],["dc.relation.issn","0271-9142"],["dc.title","Abnormally Differentiated CD4+OR CD8+T-Cells with Phenotypic and Genetic Features of Double Negative T-Cells in Human FAS Deficiency"],["dc.type","conference_abstract"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.status","published"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","73"],["dc.bibliographiccitation.journal","Journal of Clinical Immunology"],["dc.bibliographiccitation.lastpage","74"],["dc.bibliographiccitation.volume","32"],["dc.contributor.author","Rensing-Ehl, Anne"],["dc.contributor.author","Janda, Ales"],["dc.contributor.author","Vach, Werner"],["dc.contributor.author","Gladstone, Beryl P."],["dc.contributor.author","Abinun, Mario"],["dc.contributor.author","Albert, M. H."],["dc.contributor.author","Butler, Karina"],["dc.contributor.author","Cant, A."],["dc.contributor.author","Cseh, Anna-Maria"],["dc.contributor.author","Ebinger, Martin"],["dc.contributor.author","Goldacker, Sigune"],["dc.contributor.author","Hambleton, Sophie"],["dc.contributor.author","Hebart, Holger F."],["dc.contributor.author","Houet, Leonora"],["dc.contributor.author","Kentouche, Karim"],["dc.contributor.author","Kuehnle, Ingrid"],["dc.contributor.author","Lehmberg, Kai"],["dc.contributor.author","Mejstrikova, Ester"],["dc.contributor.author","Niemeyer, C."],["dc.contributor.author","Minkov, Milen"],["dc.contributor.author","Neth, O."],["dc.contributor.author","Dueckers, Gregor"],["dc.contributor.author","Owens, S."],["dc.contributor.author","Richards, M."],["dc.contributor.author","Roesler, J."],["dc.contributor.author","Schilling, Freimut H."],["dc.contributor.author","Schuster, Volker"],["dc.contributor.author","Seidel, Markus G."],["dc.contributor.author","Smisek, Petr"],["dc.contributor.author","Sukova, Martina"],["dc.contributor.author","Svec, Peter"],["dc.contributor.author","Wiesel, Thomas"],["dc.contributor.author","Lorenz, M."],["dc.contributor.author","Schwarz, K."],["dc.contributor.author","Ehl, Stephan"],["dc.contributor.author","Speckmann, Carsten"],["dc.date.accessioned","2018-11-07T09:06:30Z"],["dc.date.available","2018-11-07T09:06:30Z"],["dc.date.issued","2012"],["dc.identifier.isi","000308728900140"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/25578"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","Springer"],["dc.publisher.place","New york"],["dc.relation.conference","15th Biennial Meeting European-Society-for-Immunodeficiency (ESID)"],["dc.relation.eventlocation","Florence, ITALY"],["dc.relation.issn","0271-9142"],["dc.title","WHEN SHOULD THE FAS GENE BE SEQUENCED IN PATIENTS WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY"],["dc.type","conference_abstract"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.status","published"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","1948"],["dc.bibliographiccitation.issue","12"],["dc.bibliographiccitation.journal","Haematologica"],["dc.bibliographiccitation.lastpage","1955"],["dc.bibliographiccitation.volume","98"],["dc.contributor.author","Rensing-Ehl, Anne"],["dc.contributor.author","Janda, Ales"],["dc.contributor.author","Lorenz, Myriam Ricarda"],["dc.contributor.author","Gladstone, Beryl P."],["dc.contributor.author","Fuchs, Ilka"],["dc.contributor.author","Abinun, Mario"],["dc.contributor.author","Albert, Michael"],["dc.contributor.author","Butler, Karina"],["dc.contributor.author","Cant, Andrew"],["dc.contributor.author","Cseh, Anna-Maria"],["dc.contributor.author","Ebinger, Martin"],["dc.contributor.author","Goldacker, Sigune"],["dc.contributor.author","Hambleton, Sophie"],["dc.contributor.author","Hebart, Holger F."],["dc.contributor.author","Houet, Leonora"],["dc.contributor.author","Kentouche, Karim"],["dc.contributor.author","Kuehnle, Ingrid"],["dc.contributor.author","Lehmberg, Kai"],["dc.contributor.author","Mejstrikova, Ester"],["dc.contributor.author","Niemeyer, Charlotte"],["dc.contributor.author","Minkov, Milen"],["dc.contributor.author","Neth, Olaf"],["dc.contributor.author","Dueckers, Gregor"],["dc.contributor.author","Owens, Stephan"],["dc.contributor.author","Roesler, Joachim"],["dc.contributor.author","Schilling, Freimut H."],["dc.contributor.author","Schuster, Volker"],["dc.contributor.author","Seidel, Markus G."],["dc.contributor.author","Smisek, Petr"],["dc.contributor.author","Sukova, Martina"],["dc.contributor.author","Svec, Peter"],["dc.contributor.author","Wiesel, Thomas"],["dc.contributor.author","Gathmann, Benjamin"],["dc.contributor.author","Schwarz, Klaus"],["dc.contributor.author","Vach, Werner"],["dc.contributor.author","Ehl, Stephan"],["dc.contributor.author","Speckmann, Carsten"],["dc.date.accessioned","2018-11-07T09:16:59Z"],["dc.date.available","2018-11-07T09:16:59Z"],["dc.date.issued","2013"],["dc.description.abstract","Clinical and genetic heterogeneity renders confirmation or exclusion of autoimmune lymphoproliferative syndrome difficult. To re-evaluate and improve the currently suggested diagnostic approach to patients with suspected FAS mutation, the most frequent cause of autoimmune lymphoproliferative syndrome, we prospectively determined 11 biomarkers in 163 patients with splenomegaly or lymphadenopathy and presumed or proven autoimmune cytopenia(s). Among 98 patients sequenced for FAS mutations in CD3(+)TCR alpha/CD4(-)CD8(-) \"double negative\" T cells, 32 had germline and six had somatic FAS mutations. The best a priori predictor of FAS mutations was the combination of vitamin B12 and soluble FAS ligand (cut-offs 1255 pg/mL and 559 pg/mL, respectively), which had a positive predictive value of 92% and a negative predictive value of 97%. We used these data to develop a web-based probability calculator for FAS mutations using the three most discriminatory biomarkers (vitamin B12, soluble FAS ligand, interleukin-10) of the 11 tested. Since more than 60% of patients with lymphoproliferation and autoimmune cytopenia(s) in our cohort did not harbor FAS mutations, 15% had somatic FAS mutations, and the predictive value of double-negative T-cell values was rather low (positive and negative predictive values of 61% and 77%, respectively), we argue that the previously suggested diagnostic algorithm based on determination of double-negative T cells and germline FAS sequencing, followed by biomarker analysis, is not efficient. We propose vitamin B12 and soluble FAS ligand assessment as the initial diagnostic step with subsequent decision on FAS sequencing supported by a probability-calculating tool."],["dc.identifier.doi","10.3324/haematol.2012.081901"],["dc.identifier.isi","000328545500024"],["dc.identifier.pmid","23850805"],["dc.identifier.purl","https://resolver.sub.uni-goettingen.de/purl?gs-1/10939"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/28059"],["dc.notes.intern","Merged from goescholar"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","Ferrata Storti Foundation"],["dc.relation.issn","0390-6078"],["dc.rights","CC BY 3.0"],["dc.rights.uri","https://creativecommons.org/licenses/by/3.0"],["dc.title","Sequential decisions on FAS sequencing guided by biomarkers in patients with lymphoproliferation and autoimmune cytopenia"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.status","published"],["dc.type.version","published_version"],["dspace.entity.type","Publication"]]