Where can you find almost 10 years’ worth of data collection on primary immune deficiency (PID), representing 97 percent of immunology centers across the UK and nearly 4,800 patients? Answer: the UK Primary Immunodeficiency (UKPID) registry’s second report on the rare syndrome (1). The new report includes data from more than twice as many cases as their first publication in 2014 (2). “It was more than four years since our last report,” says Matthew Buckland from the University College London’s Centre for Immunodeficiency. “In that time, there has been a change of platform, re-validation of original data, and improved diagnostic criteria applied. With a significant increase in patient numbers approaching UK prevalence, we felt it was time to re-analyze the data.” PID affects only one in 16,000–50,000 people, and with more than 300 types of PID (3) – some of which have been diagnosed in fewer than 10 patients – the condition can be difficult to spot. Consequently, patients often experience significant delays in having symptoms recognized and receiving the correct treatment.
The national registry for structured data on PID syndromes aims to combat that diagnostic challenge by providing and collating trustworthy information for both doctors and patients. “It’s a unique data resource of patients with primary immune deficiency – a true collaborative effort from clinicians across the four nations,” said Buckland. “For rare diseases, this is the only way that we can collect reliable information that informs standard and novel approaches to treatment or cure.” As awareness of PID has increased, so has the number of patients diagnosed, which is why the UKPID team emphasize the importance of a valid authority on primary immunodeficiency. Thanks to our growing understanding of PIDs, screening for one type of the disorder (severe combined immunodeficiency, or SCID) on newborn blood spots will be trialed this year, hopefully allowing healthcare teams to support patients from a much earlier stage.
Data in the new report covers disease prevalence, delays in diagnosis, age of onset, and different treatments, such as hematopoietic stem cell transplantation (HSCT) and gene therapy, all of which can help doctors faced with unfamiliar symptoms or a rare diagnosis. “Contributing centers now have new tools for the self-interrogation of data, which helps feasibility assessment for specific studies on patient subpopulations,” says Buckland. “The next stage is to implement new ‘level 3’ projects – studies that answer questions on specific diseases or their traits, such as inflammatory lung disease in common variable immune deficiency.”
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References
- B Shillitoe et al., “The United Kingdom Primary Immune Deficiency (UKPID) registry 2012 to 2017”, Clin Exp Immunol, 192, 284–291 (2018). PMID: 29878323. JD Edgar et al., “The United Kingdom Primary Immune Deficiency (UKPID) Registry: report of the first 4 years’ activity 2008-2012”, Clin Exp Immunol, 175, 68–78 (2014). PMID: 23841717. PIDUK, “Types of PID” (2017). Available at: https://bit.ly/2zcxK8l. Accessed July 5, 2
