Revolutions in Practice: Update on Current Research at the Immunodeficiency Centre for Wales

In 1952 Colonel Ogden Bruton described the first case of X-linked Agammaglobulinaemia (XLA), recognising an inability to produce antibodies in a young boy with history of severe and recurrent infections. Using this clue, he started subcutaneous replacement human serum immunoglobulin replacement, and was struck by the resolution in his symptoms. Lacking modern syringe pumps however, deep intramuscular injection became the dominant mode of replacement, later replaced by intravenous infusion. The advent of portable syringe drivers in the 1980s allowed a return to Bruton’s original subcutaneous route, but was still limited by the volume per site. We are pleased to lead the way with the first UK use of Hyqvia, a novel means of overcoming this block thanks to the recombinant human hyaluronidase enzyme. Patients can now receive monthly instead of weekly replacement in the comfort of their home environment.

For those who prefer intravenous or regular subcutaneous therapy, we continue to explore and optimise treatments. We are participating in trials of different immunoglobulin replacement strength (5%, 10% and recently 20%) and using computer modelling to help understand how levels fluctuate in the body. This has already helped change practice with regard to planning replacement regimes around holidays and to respond safely to missed doses.

Research into the field of immunodeficiency is a rapidly growing field. Thanks to the contribution of patients and families, researchers have been able to gain remarkable insights into the signalling pathways that underlie immunity. We are pleased to have enrolled as contributors to the NHS Genomics Project, which aims to sequence 100, 000 genomes by 2017. Using this light, and a lot of computer power, we hope to help answer how and why immune deficiencies arise.

Optimising treatment to allow patients and family to lead normal lives is the goal of our service. In the near future we will start projects to document, in new detail, the true effect of primary immune deficiency on patients’ quality of life. Similarly, a screening project to detect and identify infection frequency and the bugs responsible is planned to start in 2015. We have been fortunate to recruit a research nurse, Colin Price, to help with this project which may help guide novel treatment strategies, such as providing immunoglobulin directly to the sinuses. If you are interested in taking part we would be keen to hear from you!

We have come full circle from Colonel Bruton’s original treatment – perhaps the future is outside the box.

Dr Mark Ponsford

Academic Core Trainee, attached to Clinical Immunology

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