A primary immunodeficiency report, published in the journal Clinical and Experimental Immunology, examines medical care for primary immunodeficiency patients in the UK. The publication of the report coincides with the 10^thanniversary of the United Kingdom Primary Immunodeficiency (UKPID) Registry, which collects information on patients with the condition. The full article can be found here, at the British Society for Immunology.

Primary immunodeficiency disease (PID) is a term that refers to a group of rare diseases that involve the immune system. The prevalence of these conditions in the UK is estimated to range between approximately 1 in 16,000 to 1 in 50,000. Often, the cause of PID is an alteration of one or more particular genes. Although the effects of the conditions vary between individuals, most find that they are more susceptible to infections.

The UKPID registry collects anonymous long-term data on UK patients with PID to further research and improve patient care. The registry has grown to over 4,700 patients, which is approximately twice the number since the first report on UKPID published in 2013. Patients from 97% of the immunology centres in the UK are on the register. The registry is used to inform researchers, clinicians, and others involved in the medical industry about PID.

One issue that the report highlighted is the period before diagnosis. The rare nature of PID conditions means that they are often left undiagnosed for long periods. This is a significant problem because longer periods before a diagnosis can be linked to poorer patient outcomes. Those with severe combined immunodeficiency (SCID) were found to have an average waiting period of 60 days before diagnosis, whereas this was, on average, four years for patients with common variable immunodeficiency.

UKPID hopes to reduce this delay period by providing medical professionals with more information about the conditions. The report states that almost one-quarter of patients showed symptoms other than recurrent infections, including inflammatory bowel disease and malignancy, amongst others. By raising awareness of this, UKPID may help doctors to recognise symptoms of PID sooner.

The report also highlights the importance of genetic screening for newborns related to people with PID. Since many forms of PID have been found to have a genetic basis, and approximately one-quarter of patients on the registry have been found to have a genetic cause for their condition, this is likely to provide an effective and early diagnostic tool. The UK is planning to begin a pilot blood spot program this year to screen newborns for SCID.

The authors of the report write that, during the next five to ten years, they hope to continue patient recruitment to the registry. They also would like to add more data, such as infection incidence, vaccinations, measures of lung function, and quality of life, as well as therapeutic data about the use of therapies.

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