A PIONEERIING genetic test has resulted in a Bridport boy receiving treatment for a rare immune deficiency he has been fighting his entire life.

Three weeks after Mathew Knight, 10, gave blood samples for DNA analysis, he was receiving injections to boost his immunity against a group of bacteria known as mycobacteria.

Mathew was admitted to Southampton Children's Hospital with a hip infection when his family agreed for the blood samples to be taken.

Mycobacteria can commonly cause lung symptoms, fever and weight loss. Mathew’s problems began at just three months old, when he reacted badly to a BCG vaccination and was admitted to hospital. He suffered multiple infections and hospital admissions from then on, but the cause remained a mystery.

The test also highlighted that Mathew’s mother, Wendy, who has been unwell with infections in the past, also has the condition.

Mathew’s father, Rees, said: “We know Mathew has a problem with his immune system and we want to find out as much as we can about it.

“Also, if it does help someone else in the future, all well and good, because there might be another child with the same problem as him and their family doesn’t know about it or the options available to treat it.”

The research was part of a project led by University Hospital Southampton NHS Foundation Trust, the Wessex Investigational Sciences Hub Laboratory and the NIHR/Wellcome Trust Southampton Clinical Research Facility.

Dr William Rae, a fellow in clinical immunology, said: “The problem with Mathew’s immune system was due to a deletion in the gene Interferon Gamma Receptor 1 (IFNGR1), which is critical in mounting immune responses to certain types of bacteria, such as the mycobacterial infections.

"Due to an inability to respond to interferon gamma correctly, his immune system couldn’t function properly, which is why he has been so susceptible.”

He added: “This diagnosis means he can receive the best possible treatment, directly targeting the problem with regular injections to boost his immunity against mycobacteria, so enabling his body to fight infections.”

Professor Saul Faust, director of the NIHR/Wellcome Trust Southampton, added: “Mathew’s case is incredible. To go from a sample to molecular genetic diagnosis in three weeks was sci-fi-like dreaming even just a year ago.

“We are now in a really exciting time for medical and scientific breakthroughs, with initiatives such as the 100,000 Genomes Project meaning tests like this could become a routine part of healthcare in the future.”

The 100,000 Genomes Project is a groundbreaking UK-wide programme to introduce genomics testing for patients with rare diseases and cancer into the NHS.

Anyone interested in finding out more about the project and how to get involved can visit genomicsengland.co.uk