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UK Primary Immunodeficiency Registry will help doctors diagnose patients & offer best care

30 May 2018

On the tenth anniversary of the United Kingdom Primary Immunodeficiency (UKPID) Registry, the publication of their Primary Immunodeficiency (PID) report offers the most comprehensive view to date of this small but significant group of UK patients. This report, published in Clinical & Experimental Immunology, provides valuable information on PID in the UK, especially regarding delays to diagnosis. The longer it takes for a patient to be diagnosed, the less well the patient may do in the long-term, so this information is key in helping patients in the future.

Primary immunodeficiencies are rare diseases, affecting approx. one in 16,000 to one in 50,000 people.1 The small numbers of patients cared for by any one centre provides challenges to effective diagnosis and patient care. UKPID have overcome these barriers by coordinating a National PID Registry which encourages collaboration and provides valuable information to doctors, researchers and health policy makers. Doctors continually strive to diagnose patients as early as possible, and to offer the best treatment options, and this data will help them achieve this.

The report was produced with input from 29 Immunology Institutes in the UK, and led by Dr Ben Shillitoe from Newcastle’s Institute of Cellular Medicine and Dr Matthew Buckland from University College London’s Centre for Immunodeficiency. They analysed all ten years of registry data including information on how common the diseases were, how often they were diagnosed, age of onset, diagnostic delay and what treatments patients received.

The UKPID registry recruited 4,758 patients, encompassing 97% of immunology centres within the UK. This represents a doubling of recruitment compared with the first report in 2013, with data now available for the majority of PID patients.

The registry underlies the importance of early diagnosis to future patient health. Patients with severe combined immunodeficiency (SCID) wait on average 60 days for a diagnosis, whereas patients with common variable immunodeficiency (CVID) waiting for 4 years on average for a diagnosis.  Nearly a quarter of patients presented with symptoms other than recurrent infections, for example low blood count, inflammatory bowel disease and malignancy. Increased awareness of these facts should hopefully result in reductions in diagnostic delay for future patients.

Better recognition of PID and increased awareness of its genetic basis have led to a significant increase in the numbers of patients being diagnosed, with nearly 300 genes identified.2 Newborn siblings of affected patients are now screened for PID and this will also likely help reduce diagnostic delays. Screening for SCID on the newborn blood spot is due to start in the UK in 2018 under a pilot programme, which may offer significant long-term improvements for SCID patients.

New treatments are resulting in better outcomes for PID patients. Although the number of patients using these treatments is currently small, the registry data on these will provide essential information for doctors in planning the best future strategies for patients. For now, immunoglobulin therapy remains the mainstay of treatment in PID. The data show 59% of patients receive immunoglobulin at home rather than travel to the hospital. This highlights patient preference for receiving treatment at home and should continue to be actively offered to all patients wherever possible.

Author Dr Matthew Buckland from University College London said:

“Primary immunodeficiencies are rare diseases that affect only a small number of patients in the UK. The establishment of the UKPID registry has meant that we are now able to collect data on a sufficient number of patients to enable us to address key epidemiological and therapeutic issues for these diseases. This new report shows that the UKPID registry now covers 97% of immunology centres in the UK and is starting to provide us with detailed insight into patient experience and outcomes.  We now hope to continue to work with the data to improve care for people with primary immunodeficiencies.”

In the future, the registry will collect even more detailed information, covering topics such as how patients’ lives are affected by their conditions and in-depth reporting on new treatments. This extra detail will further help the assessment of diagnosis, treatment and outcomes with the aim ultimately to improve patient care, allowing people with primary immunodeficiency to lead longer healthier lives.


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Notes to editors

This paper appears in Clinical & Experimental Immunology, the official clinical journal of the British Society for Immunology. Follow Clinical & Experimental Immunology on Twitter: @CEIjournal. The paper reference is:

Shillitoe, B et al. 2018 The United Kingdom Primary Immune Deficiency (UKPID) registry 2012 to 2017. Clinical & Experimental Immunology

Please mention the journal Clinical & Experimental Immunology in any story

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1. Grimbacher B. Clin Exp Immunol 2014; 178(Suppl.1):18–20.
2. Picard C et al. 2015. J Clin Immunol 2015; 35(8):696–726.