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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.
The verb ‘rise’ can be used both with property-denoting nouns like ‘temperature’ but also with NPs like ‘a Titan’ or ‘China’. Whereas in the former case the change triggered by a rising event is directly related to the subject (its current value increases), this does not hold for ‘a titan’ or ‘China’. In this case it is a property of these objects, say their height or their political power, which increases in value. Furthermore, ‘rise’ does not target a particular property as the examples above show. This data has led Cooper (2010) to the conclusion that it is presumably not possible (i) “to extract a single general meaning of words which covers all the particular meanings of the word in context”, and (ii) “to determine once and for all the set of particular contextually determined meanings of a word”. In this article we present a solution to the two problems raised by ‘rise’ in a frame theory. ‘Rise’ is analyzed as a scalar verb which does not lexicalize a complete scale in its meaning. Rather, it shows underspecification relative to the dimension (property) parameter of a scale. The set of admissible properties is determined by a constraint on the value ranges of properties. If the property is not uniquely determined by the subject, the comprehender uses probabilistic reasoning based on world knowledge and discourse information to defeasibly infer the most likely candidates from this set (2nd problem).
The first problem is solved not by simply introducing objects into the representation of a discourse but instead by pairs consisting of an object and an associated frame component which collects the object information contributed by the discourse. Changes triggered by events like the one denoted by ‘rise’ are modelled as update operations on the frame component while the object component is left unchanged.