THE work of Southampton doctors has led to the discovery of a rare condition in a 10-year-old boy.

A genetic test being trialled in Southampton has led to Mathew Knight receiving a diagnosis three weeks after his family agreed to give blood samples for DNA analysis.

He is now receiving injections to boost his immune system against mycobacteria, a rare bacterial condition that commonly causes lung symptoms, fever and weight loss.

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

Dr William Rae, a specialist in clinical immunology said: “The diagnosis means he can receive the best possible treatment, directly targeting the problem with regular injections to boost his immunity against mycobacteria.

"The problem with Mathew’s immune system was due to a deletion in the gene Interferon Gamma Receptor 1, which is critical in mounting immune responses to certain types of bacteria, such as the mycobacterial infections.

“His immune system couldn’t function properly, which is why he has been so susceptible.”

Mathew’s father Rees, from Bridport, has now said that the family want to discover as much about the condition as possible.

Rees, 51, said: “If it helps 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.

“We know Mathew has a problem with his immune system and we want to find out as much as we can about it.”

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

A genome is a set of chromosomes found in a cell or organism.

Professor Anthony Williams, honorary consultant immunologist at UHS said: “A precision diagnosis allows better targeted treatments and a more personalised approach to management of each individual and their family.”

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

“We are now in a really exciting time for medical and scientific breakthroughs with initiative such as this project meaning tests like this could become a routine part of healthcare in the future.”