When a common illness can land you in the intensive care unit

Lying in intensive care in an induced coma earlier this year at Canberra Hospital, Gabbie Links was close to death.

For most people in their early 30s, a bout of pneumonia would not be life threatening.

Canberran Gabbie Links has lupus and is hopeful new research will lead to better treatments. Picture: Jamila Toderas

Canberran Gabbie Links has lupus and is hopeful new research will lead to better treatments. Picture: Jamila Toderas

But Ms Links has a serious form of the autoimmune disease lupus which means even an everyday illness can turn deadly.

Her treating doctor, Simon Jiang, is leading research out of the Australian National University that for the first time has identified that rare genetic mutations are a major cause of lupus.

He is hopeful of being able to give her - and others - more effective and targeted treatments for lupus - a disease that targets the body's healthy tissue, causing inflammation, damage and pain.

Ms Links was diagnosed with the disease as a 14-year-old but it became more serious as she entered her 20s. Late last year, Ms Links contacted Dr Jiang when she was sitting at home and noticed she had a fever. She didn't think much of it, but she credits his advice - to immediately go to emergency - with saving her life.

Later finding out she had pneumonia, she was placed in two induced comas for seven days each.

On a number of occasions, doctors did not think she was going to make it. She has now recovered, but the uncertainty of not knowing when her life will be turned upside-down takes a heavy mental toll.

Some of the worst daily symptoms of the disease are actually caused by the treatments, with drugs like steroids causing inflammation around the face and nausea.

"It's hard to explain to people that I can't come out because I can't get out of bed, literally," she said.

"I feel guilt most - the amount of flights I've cancelled and lost money because I'm too sick to go or weddings I've missed."

But she's excited about the prospect of new treatments that cut out debilitating side effects and could improve her condition.

The genetic breakthrough was made by ANU researchers Dr Simon Jiang, Dr Vicki Athanasopoulos and Professor Carola Vinuesa.

"We have shown for the first time how rare gene variants that occur in less than one per cent of the population cause lupus and how these variants drive the disease in the body," Dr Jiang said.

"We've shown how most lupus patients harbour those so-called rare gene variants and how these rare gene variants cause immune cells to no longer work properly.

"When the cells no longer work, your immune system struggles to distinguish viruses and bacteria from self, leading to lupus."

Dr Jiang said there was a huge potential for targeted treatment, with Ms Links an ideal candidate for a medication being trialed in America.

"I've seen patients in the past die from a lack of treatment options," he said.

"To have one of my own patients like Gabbie and know these discoveries are actually offering her new treatment options that might prevent her going through what she did earlier this year ... is a dream of any doctor."

The paper is published in Nature Communications.