@article{TonyBurmesterSchulzeKoopsetal.2011,
  author    = {Tony, Hans-Peter and Burmester, Gerd and Schulze-Koops, Hendrik and Grunke, Mathias and Henes, Joerg and K{\"o}tter, Ina and Haas, Judith and Unger, Leonore and Lovric, Svjetlana and Haubitz, Marion and Fischer-Betz, Rebecca and Chehab, Gamal and Rubbert-Roth, Andrea and Specker, Christof and Weinerth, Jutta and Holle, Julia and M{\"u}ller-Ladner, Ulf and K{\"o}nig, Ramona and Fiehn, Christoph and Burgwinkel, Philip and Budde, Klemens and S{\"o}rensen, Helmut and Meurer, Michael and Aringer, Martin and Kieseier, Bernd and Erfurt-Berge, Cornelia and Sticherling, Michael and Veelken, Roland and Ziemann, Ulf and Strutz, Frank and von Wussow, Praxis and Meier, Florian MP and Hunzelmann, Nico and Schmidt, Enno and Bergner, Raoul and Schwarting, Andreas and Eming, R{\"u}diger and Schwarz-Eywill, Michael and Wassenberg, Siegfried and Fleck, Martin and Metzler, Claudia and Zettl, Uwe and Westphal, Jens and Heitmann, Stefan and Herzog, Anna L. and Wiendl, Heinz and Jakob, Waltraud and Schmidt, Elvira and Freivogel, Klaus and D{\"o}rner, Thomas and Hertl, Michael and Stadler, Rudolf},
  title     = {Safety and clinical outcomes of rituximab therapy in patients with different autoimmune diseases: experience from a national registry (GRAID)},
  series = {Arthritis Research \& Therapy},
  volume    = {13},
  journal   = {Arthritis Research \& Therapy},
  number    = {R75},
  doi       = {10.1186/ar3337},
  url       = {http://nbn-resolving.de/urn:nbn:de:bvb:20-opus-142856},
  pages     = {1-14},
  year      = {2011},
  abstract  = {Introduction: Evidence from a number of open-label, uncontrolled studies has suggested that rituximab may benefit patients with autoimmune diseases who are refractory to standard-of-care. The objective of this study was to evaluate the safety and clinical outcomes of rituximab in several standard-of-care-refractory autoimmune diseases (within rheumatology, nephrology, dermatology and neurology) other than rheumatoid arthritis or non-Hodgkin's lymphoma in a real-life clinical setting. Methods: Patients who received rituximab having shown an inadequate response to standard-of-care had their safety and clinical outcomes data retrospectively analysed as part of the German Registry of Autoimmune Diseases. The main outcome measures were safety and clinical response, as judged at the discretion of the investigators. Results: A total of 370 patients (299 patient-years) with various autoimmune diseases (23.0\% with systemic lupus erythematosus, 15.7\% antineutrophil cytoplasmic antibody-associated granulomatous vasculitides, 15.1\% multiple sclerosis and 10.0\% pemphigus) from 42 centres received a mean dose of 2,440 mg of rituximab over a median (range) of 194 (180 to 1,407) days. The overall rate of serious infections was 5.3 per 100 patient-years during rituximab therapy. Opportunistic infections were infrequent across the whole study population, and mostly occurred in patients with systemic lupus erythematosus. There were 11 deaths (3.0\% of patients) after rituximab treatment (mean 11.6 months after first infusion, range 0.8 to 31.3 months), with most of the deaths caused by infections. Overall (n = 293), 13.3\% of patients showed no response, 45.1\% showed a partial response and 41.6\% showed a complete response. Responses were also reflected by reduced use of glucocorticoids and various immunosuppressives during rituximab therapy and follow-up compared with before rituximab. Rituximab generally had a positive effect on patient well-being (physician's visual analogue scale; mean improvement from baseline of 12.1 mm)},
  language  = {en}
}
@article{ElHelouBiegnerBodeetal.2019,
  author    = {El-Helou, Sabine M. and Biegner, Anika-Kerstin and Bode, Sebastian and Ehl, Stephan R. and Heeg, Maximilian and Maccari, Maria E. and Ritterbusch, Henrike and Speckmann, Carsten and Rusch, Stephan and Scheible, Raphael and Warnatz, Klaus and Atschekzei, Faranaz and Beider, Renata and Ernst, Diana and Gerschmann, Stev and Jablonka, Alexandra and Mielke, Gudrun and Schmidt, Reinhold E. and Sch{\"u}rmann, Gesine and Sogkas, Georgios and Baumann, Ulrich H. and Klemann, Christian and Viemann, Dorothee and Bernuth, Horst von and Kr{\"u}ger, Renate and Hanitsch, Leif G. and Scheibenbogen, Carmen M. and Wittke, Kirsten and Albert, Michael H. and Eichinger, Anna and Hauck, Fabian and Klein, Christoph and Rack-Hoch, Anita and Sollinger, Franz M. and Avila, Anne and Borte, Michael and Borte, Stephan and Fasshauer, Maria and Hauenherm, Anja and Kellner, Nils and M{\"u}ller, Anna H. and {\"U}lzen, Anett and Bader, Peter and Bakhtiar, Shahrzad and Lee, Jae-Yun and Heß, Ursula and Schubert, Ralf and W{\"o}lke, Sandra and Zielen, Stefan and Ghosh, Sujal and Laws, Hans-Juergen and Neubert, Jennifer and Oommen, Prasad T. and H{\"o}nig, Manfred and Schulz, Ansgar and Steinmann, Sandra and Klaus, Schwarz and D{\"u}ckers, Gregor and Lamers, Beate and Langemeyer, Vanessa and Niehues, Tim and Shai, Sonu and Graf, Dagmar and M{\"u}glich, Carmen and Schmalzing, Marc T. and Schwaneck, Eva C. and Tony, Hans-Peter and Dirks, Johannes and Haase, Gabriele and Liese, Johannes G. and Morbach, Henner and Foell, Dirk and Hellige, Antje and Wittkowski, Helmut and Masjosthusmann, Katja and Mohr, Michael and Geberzahn, Linda and Hedrich, Christian M. and M{\"u}ller, Christiane and R{\"o}sen-Wolff, Angela and Roesler, Joachim and Zimmermann, Antje and Behrends, Uta and Rieber, Nikolaus and Schauer, Uwe and Handgretinger, Rupert and Holzer, Ursula and Henes, J{\"o}rg and Kanz, Lothar and Boesecke, Christoph and Rockstroh, J{\"u}rgen K. and Schwarze-Zander, Carolynne and Wasmuth, Jan-Christian and Dilloo, Dagmar and H{\"u}lsmann, Brigitte and Sch{\"o}nberger, Stefan and Schreiber, Stefan and Zeuner, Rainald and Ankermann, Tobias and Bismarck, Philipp von and Huppertz, Hans-Iko and Kaiser-Labusch, Petra and Greil, Johann and Jakoby, Donate and Kulozik, Andreas E. and Metzler, Markus and Naumann-Bartsch, Nora and Sobik, Bettina and Graf, Norbert and Heine, Sabine and Kobbe, Robin and Lehmberg, Kai and M{\"u}ller, Ingo and Herrmann, Friedrich and Horneff, Gerd and Klein, Ariane and Peitz, Joachim and Schmidt, Nadine and Bielack, Stefan and Groß-Wieltsch, Ute and Classen, Carl F. and Klasen, Jessica and Deutz, Peter and Kamitz, Dirk and Lassy, Lisa and Tenbrock, Klaus and Wagner, Norbert and Bernbeck, Benedikt and Brummel, Bastian and Lara-Villacanas, Eusebia and M{\"u}nstermann, Esther and Schneider, Dominik T. and Tietsch, Nadine and Westkemper, Marco and Weiß, Michael and Kramm, Christof and K{\"u}hnle, Ingrid and Kullmann, Silke and Girschick, Hermann and Specker, Christof and Vinnemeier-Laubenthal, Elisabeth and Haenicke, Henriette and Schulz, Claudia and Schweigerer, Lothar and M{\"u}ller, Thomas G. and Stiefel, Martina and Belohradsky, Bernd H. and Soetedjo, Veronika and Kindle, Gerhard and Grimbacher, Bodo},
  title     = {The German national registry of primary immunodeficiencies (2012-2017)},
  series = {Frontiers in Immunology},
  volume    = {10},
  journal   = {Frontiers in Immunology},
  doi       = {10.3389/fimmu.2019.01272},
  url       = {http://nbn-resolving.de/urn:nbn:de:bvb:20-opus-226629},
  year      = {2019},
  abstract  = {Introduction: The German PID-NET registry was founded in 2009, serving as the first national registry of patients with primary immunodeficiencies (PID) in Germany. It is part of the European Society for Immunodeficiencies (ESID) registry. The primary purpose of the registry is to gather data on the epidemiology, diagnostic delay, diagnosis, and treatment of PIDs. Methods: Clinical and laboratory data was collected from 2,453 patients from 36 German PID centres in an online registry. Data was analysed with the software Stata® and Excel. Results: The minimum prevalence of PID in Germany is 2.72 per 100,000 inhabitants. Among patients aged 1-25, there was a clear predominance of males. The median age of living patients ranged between 7 and 40 years, depending on the respective PID. Predominantly antibody disorders were the most prevalent group with 57\% of all 2,453 PID patients (including 728 CVID patients). A gene defect was identified in 36\% of patients. Familial cases were observed in 21\% of patients. The age of onset for presenting symptoms ranged from birth to late adulthood (range 0-88 years). Presenting symptoms comprised infections (74\%) and immune dysregulation (22\%). Ninety-three patients were diagnosed without prior clinical symptoms. Regarding the general and clinical diagnostic delay, no PID had undergone a slight decrease within the last decade. However, both, SCID and hyper IgE-syndrome showed a substantial improvement in shortening the time between onset of symptoms and genetic diagnosis. Regarding treatment, 49\% of all patients received immunoglobulin G (IgG) substitution (70\%-subcutaneous; 29\%-intravenous; 1\%-unknown). Three-hundred patients underwent at least one hematopoietic stem cell transplantation (HSCT). Five patients had gene therapy. Conclusion: The German PID-NET registry is a precious tool for physicians, researchers, the pharmaceutical industry, politicians, and ultimately the patients, for whom the outcomes will eventually lead to a more timely diagnosis and better treatment.},
  language  = {en}
}
@article{ReckeKonitzerLemckeetal.2018,
  author    = {Recke, Andreas and Konitzer, Sarah and Lemcke, Susanne and Freitag, Miriam and Sommer, Nele Maxi and Abdelhady, Mohammad and Amoli, Mahsa M. and Benoit, Sandrine and El-Chennawy, Farha and Eldarouti, Mohammad and Eming, R{\"u}diger and Gl{\"a}ser, Regine and G{\"u}nther, Claudia and Hadaschik, Eva and Homey, Bernhard and Lieb, Wolfgang and Peitsch, Wiebke K. and Pf{\"o}hler, Claudia and Robati, Reza M. and Saeedi, Marjan and S{\´a}rdy, Mikl{\´o}s and Sticherling, Michael and Uzun, Soner and Worm, Margitta and Zillikens, Detlef and Ibrahim, Saleh and Vidarsson, Gestur and Schmidt, Enno},
  title     = {The p.Arg435His Variation of IgG3 With High Affinity to FcRn Is Associated With Susceptibility for Pemphigus Vulgaris-Analysis of Four Different Ethnic Cohorts},
  series = {frontiers in Immunology},
  volume    = {9},
  journal   = {frontiers in Immunology},
  doi       = {10.3389/fimmu.2018.01788},
  url       = {http://nbn-resolving.de/urn:nbn:de:bvb:20-opus-225073},
  pages     = {1788, 1-8},
  year      = {2018},
  abstract  = {IgG3 is the IgG subclass with the strongest effector functions among all four IgG subclasses and the highest degree of allelic variability among all constant immunoglobulin genes. Due to its genetic position, IgG3 is often the first isotype an antibody switches to before IgG1 or IgG4. Compared with the other IgG subclasses, it has a reduced half-life which is probably connected to a decreased affinity to the neonatal Fc receptor (FcRn). However, a few allelic variants harbor an amino acid replacement of His435 to Arg that reverts the half-life of the resulting IgG3 to the same level as the other IgG subclasses. Because of its functional impact, we hypothesized that the p.Arg435His variation could be associated with susceptibility to autoantibody-mediated diseases like pemphigus vulgaris (PV) and bullous pemphigoid (BP). Using a set of samples from German, Turkish, Egyptian, and Iranian patients and controls, we were able to demonstrate a genetic association of the p.Arg435His variation with PV risk, but not with BP risk. Our results suggest a hitherto unknown role for the function of IgG3 in the pathogenesis of PV.},
  subject      = {Diagnose},
  language  = {en}
}
@phdthesis{Schmidt2019,
  author    = {Schmidt, Claudia},
  title     = {Ausbildung von oraler Motor Fluency unter Manipulation der Zunge und der sensiblen Nervenbahn mittels Elektrostimulation und Leitungsan{\"a}sthesie},
  doi       = {10.25972/OPUS-17914},
  url       = {http://nbn-resolving.de/urn:nbn:de:bvb:20-opus-179146},
  school      = {Universit{\"a}t W{\"u}rzburg},
  year      = {2019},
  abstract  = {Diese Dissertation untersucht die Ausbildung motorischer Verarbeitungsfl{\"u}ssigkeit bei verbalen Stimuli, welche als Ursache f{\"u}r die Entstehung des Mere-Exposure Effekts angesehen wird. Ziel war es herauszufinden, ob eine Bewegung der Zunge, die external mittels Elektrostimulation verursacht wurde, Einfluss auf den Mere-Exposure Effekt aus{\"u}bt. Des Weiteren wurde untersucht, ob der Effekt unter Elektrostimulation und gleichzeitiger St{\"o}rung der Afferenz mittels Lokalan{\"a}sthesie auftritt. Ergebnis dieser Studie war, dass der Mere-Exposure Effekt in der Gesamtstichprobe mit N = 68 Probanden nachzuweisen war. Eine bloße Motorinterferenz der Zunge ist demnach nicht der entscheidende Faktor f{\"u}r die Ausbildung von Fluency. Auch eine Ausschaltung der Afferenz mittels An{\"a}sthesie bei N = 37 Probanden konnte den Effekt nicht eliminieren und scheint somit keinen maßgeblichen Einfluss auf Fluency f{\"u}r verbale Stimuli zu haben.},
  subject      = {Mere-Exposure-Effekt},
  language  = {de}
}
@article{SonnenscheinvanderVoortArendsdeJongsteetal.2014,
  author    = {Sonnenschein-van der Voort, Agnes M. M. and Arends, Lidia R. and de Jongste, Johan C. and Annesi-Maesano, Isabella and Arshad, S. Hasan and Barros, Henrique and Basterrechea, Mikel and Bisgaard, Hans and Chatzi, Leda and Corpeleijn, Eva and Correia, Sofia and Craig, Leone C. and Devereux, Graham and Dogaru, Cristian and Dostal, Miroslav and Duchen, Karel and Eggesb{\o}, Merete and van der Ent, C. Kors and Fantini, Maria P. and Forastiere, Francesco and Frey, Urs and Gehring, Ulrike and Gori, Davide and van der Gugten, Anne C. and Hanke, Wojciech and Henderson, A. John and Heude, Barbara and I{\~n}iguez, Carmen and Inskip, Hazel M. and Keil, Thomas and Kelleher, Cecily C. and Kogevinas, Manolis and Kreiner-M{\o}ller, Eskil and Kuehni, Claudia E. and K{\"u}pers, Leanne K. and Lancz, Kinga and Larsen, Pernille S. and Lau, Susanne and Ludvigsson, Johnny and Mommers, Monique and Andersen, Anne-Marie Nybo and Palkovicova, Lubica and Pike, Katherine C. and Pizzi, Constanza and Polanska, Kinga and Porta, Daniela and Richiardi, Lorenzo and Roberts, Graham and Schmidt, Anne and Sram, Radim J. and Sunyer, Jordi and Thijs, Carel and Torrent, Maties and Viljoen, Karien and Wijga, Alet H. and Vrijheid, Martine and Jaddoe, Vincent W. V. and Duijts, Liesbeth},
  title     = {Preterm birth, infant weight gain, and childhood asthma risk: A meta-analysis of 147,000 European children},
  series = {The Journal of Allergy and Clinical Immunology},
  volume    = {133},
  journal   = {The Journal of Allergy and Clinical Immunology},
  number    = {5},
  doi       = {10.1016/j.jaci.2013.12.1082},
  url       = {http://nbn-resolving.de/urn:nbn:de:bvb:20-opus-120714},
  pages     = {1317-29},
  year      = {2014},
  abstract  = {Background Preterm birth, low birth weight, and infant catch-up growth seem associated with an increased risk of respiratory diseases in later life, but individual studies showed conflicting results. Objectives We performed an individual participant data meta-analysis for 147,252 children of 31 birth cohort studies to determine the associations of birth and infant growth characteristics with the risks of preschool wheezing (1-4 years) and school-age asthma (5-10 years). Methods First, we performed an adjusted 1-stage random-effect meta-analysis to assess the combined associations of gestational age, birth weight, and infant weight gain with childhood asthma. Second, we performed an adjusted 2-stage random-effect meta-analysis to assess the associations of preterm birth (gestational age <37 weeks) and low birth weight (<2500 g) with childhood asthma outcomes. Results Younger gestational age at birth and higher infant weight gain were independently associated with higher risks of preschool wheezing and school-age asthma (P < .05). The inverse associations of birth weight with childhood asthma were explained by gestational age at birth. Compared with term-born children with normal infant weight gain, we observed the highest risks of school-age asthma in children born preterm with high infant weight gain (odds ratio [OR], 4.47; 95\% CI, 2.58-7.76). Preterm birth was positively associated with an increased risk of preschool wheezing (pooled odds ratio [pOR], 1.34; 95\% CI, 1.25-1.43) and school-age asthma (pOR, 1.40; 95\% CI, 1.18-1.67) independent of birth weight. Weaker effect estimates were observed for the associations of low birth weight adjusted for gestational age at birth with preschool wheezing (pOR, 1.10; 95\% CI, 1.00-1.21) and school-age asthma (pOR, 1.13; 95\% CI, 1.01-1.27). Conclusion Younger gestational age at birth and higher infant weight gain were associated with childhood asthma outcomes. The associations of lower birth weight with childhood asthma were largely explained by gestational age at birth."},
  language  = {en}
}
@article{HohenauerBerkingSchmidtetal.2013,
  author    = {Hohenauer, Tobias and Berking, Carola and Schmidt, Andreas and Haferkamp, Sebastian and Senft, Daniela and Kammerbauer, Claudia and Fraschka, Sabine and Graf, Saskia Anna and Irmler, Martin and Beckers, Johannes and Flaig, Michael and Aigner, Achim and H{\"o}bel, Sabrina and Hoffmann, Franziska and Hermeking, Heiko and Rothenfusser, Simon and Endres, Stefan and Ruzicka, Thomas and Besch, Robert},
  title     = {The neural crest transcription factor Brn3a is expressed in melanoma and required for cell cycle progression and survival},
  series = {EMBO Molecular Medicine},
  volume    = {5},
  journal   = {EMBO Molecular Medicine},
  issn      = {1757-4676},
  doi       = {10.1002/emmm.201201862},
  url       = {http://nbn-resolving.de/urn:nbn:de:bvb:20-opus-122193},
  pages     = {919-934},
  year      = {2013},
  abstract  = {Pigment cells and neuronal cells both are derived from the neural crest. Here, we describe the Pit-Oct-Unc (POU) domain transcription factor Brn3a, normally involved in neuronal development, to be frequently expressed in melanoma, but not in melanocytes and nevi. RNAi-mediated silencing of Brn3a strongly reduced the viability of melanoma cell lines and decreased tumour growth in vivo. In melanoma cell lines, inhibition of Brn3a caused DNA double-strand breaks as evidenced by Mre11/Rad50-containing nuclear foci. Activated DNA damage signalling caused stabilization of the tumour suppressor p53, which resulted in cell cycle arrest and apoptosis. When Brn3a was ectopically expressed in primary melanocytes and fibroblasts, anchorage-independent growth was increased. In tumourigenic melanocytes and fibroblasts, Brn3a accelerated tumour growth in vivo. Furthermore, Brn3a cooperated with proliferation pathways such as oncogenic BRAF, by reducing oncogene-induced senescence in non-malignant melanocytes. Together, these results identify Brn3a as a new factor in melanoma that is essential for melanoma cell survival and that promotes melanocytic transformation and tumourigenesis.},
  language  = {en}
}
@article{SchofferSchueleinArandetal.2016,
  author    = {Schoffer, Olaf and Sch{\"u}lein, Stefanie and Arand, Gerlinde and Arnholdt, Hans and Baaske, Dieter and Bargou, Ralf C. and Becker, Nikolaus and Beckmann, Matthias W. and Bodack, Yves and B{\"o}hme, Beatrix and Bozkurt, Tayfun and Breitsprecher, Regine and Buchali, Andre and Burger, Elke and Burger, Ulrike and Dommisch, Klaus and Elsner, Gudrun and Fernschild, Karin and Flintzer, Ulrike and Funke, Uwe and Gerken, Michael and G{\"o}bel, Hubert and Grobe, Norbert and Gumpp, Vera and Heinzerling, Lucie and Kempfer, Lana Raffaela and Kiani, Alexander and Klinkhammer-Schalke, Monika and Kl{\"o}cking, Sabine and Kreibich, Ute and Knabner, Katrin and Kuhn, Peter and Lutze, Stine and M{\"a}der, Uwe and Maisel, Tanja and Maschke, Jan and Middeke, Martin and Neubauer, Andreas and Niedostatek, Antje and Opazo-Saez, Anabelle and Peters, Christoph and Schell, Beatrice and Schenkirsch, Gerhard and Schmalenberg, Harald and Schmidt, Peter and Schneider, Constanze and Schubotz, Birgit and Seide, Anika and Strecker, Paul and Taubenheim, Sabine and Wackes, Matthias and Weiß, Steffen and Welke, Claudia and Werner, Carmen and Wittekind, Christian and Wulff, J{\"o}rg and Zettl, Heike and Klug, Stefanie J.},
  title     = {Tumour stage distribution and survival of malignant melanoma in Germany 2002-2011},
  series = {BMC Cancer},
  volume    = {16},
  journal   = {BMC Cancer},
  number    = {936},
  doi       = {10.1186/s12885-016-2963-0},
  url       = {http://nbn-resolving.de/urn:nbn:de:bvb:20-opus-164544},
  year      = {2016},
  abstract  = {Background Over the past two decades, there has been a rising trend in malignant melanoma incidence worldwide. In 2008, Germany introduced a nationwide skin cancer screening program starting at age 35. The aims of this study were to analyse the distribution of malignant melanoma tumour stages over time, as well as demographic and regional differences in stage distribution and survival of melanoma patients. Methods Pooled data from 61 895 malignant melanoma patients diagnosed between 2002 and 2011 and documented in 28 German population-based and hospital-based clinical cancer registries were analysed using descriptive methods, joinpoint regression, logistic regression and relative survival. Results The number of annually documented cases increased by 53.2\% between 2002 (N = 4 779) and 2011 (N = 7 320). There was a statistically significant continuous positive trend in the proportion of stage UICC I cases diagnosed between 2002 and 2011, compared to a negative trend for stage UICC II. No trends were found for stages UICC III and IV respectively. Age (OR 0.97, 95\% CI 0.97-0.97), sex (OR 1.18, 95\% CI 1.11-1.25), date of diagnosis (OR 1.05, 95\% CI 1.04-1.06), 'diagnosis during screening' (OR 3.24, 95\% CI 2.50-4.19) and place of residence (OR 1.23, 95\% CI 1.16-1.30) had a statistically significant influence on the tumour stage at diagnosis. The overall 5-year relative survival for invasive cases was 83.4\% (95\% CI 82.8-83.9\%). Conclusions No distinct changes in the distribution of malignant melanoma tumour stages among those aged 35 and older were seen that could be directly attributed to the introduction of skin cancer screening in 2008. "},
  language  = {en}
}
@article{StengelVuralBrunderetal.2019,
  author    = {Stengel, Helena and Vural, Atay and Brunder, Anna-Michelle and Heinius, Annika and Appeltshauser, Luise and Fiebig, Bianca and Giese, Florian and Dresel, Christian and Papagianni, Aikaterini and Birklein, Frank and Weis, Joachim and Huchtemann, Tessa and Schmidt, Christian and K{\"o}rtvelyessy, Peter and Villmann, Carmen and Meinl, Edgar and Sommer, Claudia and Leypoldt, Frank and Doppler, Kathrin},
  title     = {Anti-pan-neurofascin IgG3 as a marker of fulminant autoimmune neuropathy},
  series = {Neurology: Neuroimmunology \& Neuroinflammation},
  volume    = {6},
  journal   = {Neurology: Neuroimmunology \& Neuroinflammation},
  number    = {5},
  doi       = {10.1212/NXI.0000000000000603},
  url       = {http://nbn-resolving.de/urn:nbn:de:bvb:20-opus-202462},
  year      = {2019},
  abstract  = {Objective To identify and characterize patients with autoantibodies against different neurofascin (NF) isoforms. Methods Screening of a large cohort of patient sera for anti-NF autoantibodies by ELISA and further characterization by cell-based assays, epitope mapping, and complement binding assays. Results Two different clinical phenotypes became apparent in this study: The well-known clinical picture of subacute-onset severe sensorimotor neuropathy with tremor that is known to be associated with IgG4 autoantibodies against the paranodal isoform NF-155 was found in 2 patients. The second phenotype with a dramatic course of disease with tetraplegia and almost locked-in syndrome was associated with IgG3 autoantibodies against nodal and paranodal isoforms of NF in 3 patients. The epitope against which these autoantibodies were directed in this second phenotype was the common Ig domain found in all 3 NF isoforms. In contrast, anti-NF-155 IgG4 were directed against the NF-155-specific Fn3Fn4 domain. The description of a second phenotype of anti-NF-associated neuropathy is in line with some case reports of similar patients that were published in the last year. Conclusions Our results indicate that anti-pan-NF-associated neuropathy differs from anti-NF-155-associated neuropathy, and epitope and subclass play a major role in the pathogenesis and severity of anti-NF-associated neuropathy and should be determined to correctly classify patients, also in respect to possible differences in therapeutic response.},
  language  = {en}
}
@article{BumillerBiniHochKohlerAugustoetal.2022,
  author    = {Bumiller-Bini Hoch, Val{\´e}ria and Kohler, Ana Fl{\´a}via and Augusto, Danillo G. and Lobo-Alves, Sara Cristina and Malheiros, Danielle and Cipolla, Gabriel Adelman and Winter Boldt, Angelica Beate and Braun-Prado, Karin and Wittig, Michael and Franke, Andre and Pf{\"o}hler, Claudia and Worm, Margitta and van Beek, Nina and Goebeler, Matthias and S{\´a}rdy, Mikl{\´o}s and Ibrahim, Saleh and Busch, Hauke and Schmidt, Enno and Hundt, Jennifer Elisabeth and Araujo-Souza, Patr{\´i}cia Savio de and Petzl-Erler, Maria Luiza},
  title     = {Genetic associations and differential mRNA expression levels of host genes suggest a viral trigger for endemic pemphigus foliaceus},
  series = {Viruses},
  volume    = {14},
  journal   = {Viruses},
  number    = {5},
  issn      = {1999-4915},
  doi       = {10.3390/v14050879},
  url       = {http://nbn-resolving.de/urn:nbn:de:bvb:20-opus-270572},
  year      = {2022},
  abstract  = {The long search for the environmental trigger of the endemic pemphigus foliaceus (EPF, fogo selvagem) has not yet resulted in any tangible findings. Here, we searched for genetic associations and the differential expression of host genes involved in early viral infections and innate antiviral defense. Genetic variants could alter the structure, expression sites, or levels of the gene products, impacting their functions. By analyzing 3063 variants of 166 candidate genes in 227 EPF patients and 194 controls, we found 12 variants within 11 genes associated with differential susceptibility (p < 0.005) to EPF. The products of genes TRIM5, TPCN2, EIF4E, EIF4E3, NUP37, NUP50, NUP88, TPR, USP15, IRF8, and JAK1 are involved in different mechanisms of viral control, for example, the regulation of viral entry into the host cell or recognition of viral nucleic acids and proteins. Only two of nine variants were also associated in an independent German cohort of sporadic PF (75 patients, 150 controls), aligning with our hypothesis that antiviral host genes play a major role in EPF due to a specific virus-human interaction in the endemic region. Moreover, CCL5, P4HB, and APOBEC3G mRNA levels were increased (p < 0.001) in CD4+ T lymphocytes of EPF patients. Because there is limited or no evidence that these genes are involved in autoimmunity, their crucial role in antiviral responses and the associations that we observed support the hypothesis of a viral trigger for EPF, presumably a still unnoticed flavivirus. This work opens new frontiers in searching for the trigger of EPF, with the potential to advance translational research that aims for disease prevention and treatment.},
  language  = {en}
}
@article{BuhlBeissertGaffaletal.2020,
  author    = {Buhl, Timo and Beissert, Stefan and Gaffal, Evelyn and Goebeler, Matthias and Hertl, Michael and Mauch, Cornelia and Reich, Kristian and Schmidt, Enno and Sch{\"o}n, Michael P. and Sticherling, Michael and Sunderk{\"o}tter, Cord and Traidl-Hoffmann, Claudia and Werfel, Thomas and Wilsman-Theis, Dagmar and Worm, Margitta},
  title     = {COVID-19 and implications for dermatological and allergological diseases},
  series = {JDDG: Journal der Deutschen Dermatologischen Gesellschaft},
  volume    = {18},
  journal   = {JDDG: Journal der Deutschen Dermatologischen Gesellschaft},
  number    = {8},
  doi       = {10.1111/ddg.14195},
  url       = {http://nbn-resolving.de/urn:nbn:de:bvb:20-opus-217860},
  pages     = {815 -- 824},
  year      = {2020},
  abstract  = {COVID-19, caused by the coronavirus SARS-CoV-2, has become pandemic. A further level of complexity opens up as soon as we look at diseases whose pathogenesis and therapy involve different immunological signaling pathways, which are potentially affected by COVID-19. Medical treatments must often be reassessed and questioned in connection with this infection. This article summarizes the current knowledge of COVID-19 in the light of major dermatological and allergological diseases. It identifies medical areas lacking sufficient data and draws conclusions for the management of our patients during the pandemic. We focus on common chronic inflammatory skin diseases with complex immunological pathogenesis: psoriasis, eczema including atopic dermatitis, type I allergies, autoimmune blistering and inflammatory connective tissue diseases, vasculitis, and skin cancers. Since several other inflammatory skin diseases display related or comparable immunological reactions, clustering of the various inflammatory dermatoses into different disease patterns may help with therapeutic decisions. Thus, following these patterns of skin inflammation, our review may supply treatment recommendations and thoughtful considerations for disease management even beyond the most frequent diseases discussed here.},
  language  = {en}
}