Immune system disorders

Four-year-old Nina was born with severe combined immunodeficiency, a condition caused by a genetic defect that meant she did not have an immune system.

Some forms of rare immune system disorders, like juvenile idiopathic arthritis (JIA) and juvenile dermatomyositis (JDM), are caused by the immune system going into overdrive so it attacks and inflames the body. Other disorders cause the exact opposite – an underactive immune system or one that’s missing altogether. For these children, even a common cold can be life-threatening. Right now, GOSH is leading global advances to change the future for children with both types of conditions.

GOSH and the ICH is leading the world in treating children born with an inability to fight infections by using novel gene therapy approaches. The conventional treatment is a bone marrow transplant, but this does not work for every child. Just over 10 years ago, GOSH became one of the few centres in the world to begin trials of gene therapy to treat children, such as Nina, born with rare genetic disorders.

We’ll support the discovery of a new era of kinder and more effective personalised treatments for children with inflammatory disorders like JIA and JDM. We’ll drive progress for children who can’t fight infections by funding the next steps in revolutionary gene therapy – replacing faulty genes in the body’s cells to reboot and restore the immune system. Our researchers have already developed clinical trials to treat – and potentially cure – five rare immune system disorders. We want to help them double that number.

Our researchers have already developed clinical trials to treat – and potentially cure – five rare immune system disorders. Now we want to help them double that number.

For Nina and her family, the gene therapy has been a miracle. “Nina is so full of life and mischief – she’s at preschool and runs around the garden sticking things in her mouth just like any other child!” says her dad, Graeme.