@article{RoeslerSegererMorbachetal.2012, author = {Roesler, Joachim and Segerer, Florian and Morbach, Henner and Kleinert, Stefan and Thieme, Sebastian and R{\"o}sen-Wolff, Angela and Liese, Johannes G.}, title = {P67-phox (NCF2) Lacking Exons 11 and 12 Is Functionally Active and Leads to an Extremely Late Diagnosis of Chronic Granulomatous Disease (CGD)}, series = {PLoS One}, volume = {7}, journal = {PLoS One}, number = {4}, doi = {10.1371/journal.pone.0034296}, url = {http://nbn-resolving.de/urn:nbn:de:bvb:20-opus-134948}, pages = {e34296}, year = {2012}, abstract = {Two brothers in their fifties presented with a medical history of suspected fungal allergy, allergic bronchopulmonary aspergillosis, alveolitis, and invasive aspergillosis and pulmonary fistula, respectively. Eventually, after a delay of 50 years, chronic granulomatous disease (CGD) was diagnosed in the index patient. We found a new splice mutation in the NCF2 (p67-phox) gene, c.1000+2T -> G, that led to several splice products one of which lacked exons 11 and 12. This deletion was in frame and allowed for remarkable residual NADPH oxidase activity as determined by transduction experiments using a retroviral vector. We conclude that p67-phox which lacks the 34 amino acids encoded by the two exons can still exert considerable functional activity. This activity can partially explain the long-term survival of the patients without adequate diagnosis and treatment, but could not prevent progressing lung damage.}, language = {en} } @article{RoseDammGreineretal.2014, author = {Rose, Markus A. and Damm, Oliver and Greiner, Wolfgang and Knuf, Markus and Wutzler, Peter and Liese, Johannes G. and Kr{\"u}ger, Hagen and Wahn, Ulrich and Schaberg, Tom and Schwehm, Markus and Kochmann, Thomas F. and Eichner, Martin}, title = {The epidemiological impact of childhood influenza vaccination using live-attenuated influenza vaccine (LAIV) in Germany: predictions of a simulation study}, series = {BMC Infectious Diseases}, volume = {14}, journal = {BMC Infectious Diseases}, number = {40}, issn = {1471-2334}, doi = {10.1186/1471-2334-14-40}, url = {http://nbn-resolving.de/urn:nbn:de:bvb:20-opus-117563}, year = {2014}, abstract = {Background: Routine annual influenza vaccination is primarily recommended for all persons aged 60 and above and for people with underlying chronic conditions in Germany. Other countries have already adopted additional childhood influenza immunisation programmes. The objective of this study is to determine the potential epidemiological impact of implementing paediatric influenza vaccination using intranasally administered live-attenuated influenza vaccine (LAIV) in Germany. Methods: A deterministic age-structured model is used to simulate the population-level impact of different vaccination strategies on the transmission dynamics of seasonal influenza in Germany. In our base-case analysis, we estimate the effects of adding a LAIV-based immunisation programme targeting children 2 to 17 years of age to the existing influenza vaccination policy. The data used in the model is based on published evidence complemented by expert opinion. Results: In our model, additional vaccination of children 2 to 17 years of age with LAIV leads to the prevention of 23.9 million influenza infections and nearly 16 million symptomatic influenza cases within 10 years. This reduction in burden of disease is not restricted to children. About one third of all adult cases can indirectly be prevented by LAIV immunisation of children. Conclusions: Our results demonstrate that vaccinating children 2-17 years of age is likely associated with a significant reduction in the burden of paediatric influenza. Furthermore, annual routine childhood vaccination against seasonal influenza is expected to decrease the incidence of influenza among adults and older people due to indirect effects of herd protection. In summary, our model provides data supporting the introduction of a paediatric influenza immunisation programme in Germany.}, language = {en} }