Kate Pulling, now aged 23 was found to be suffering from an unknown disease in which her immune system's signaling processes fails to function properly leading her to fall sick frequently. She has gone through hospital care for more than a decade as a result of the condition.

This was the first time a case with this disorder reported by the Queensland Institute of Medical Research (QIMR) and was published in the journal Clinical Infectious Diseases.

Dr Maher Gandhi, head of QIMR's Immunohaemotology Laboratory explains that they haven't got a name for the condition other than T-cell signaling defect.

He said that there are no recorded cases of this condition in the literature which puts Kate Pulling's case as a unique one.

The doctors have successfully treated Ms Pulling with an experimental bone marrow transplant using stem cells donated by her sister. The QIMR had worked on Ms Pulling's case for more than three years, and the experimental bone marrow transplant was undertaken at the Royal Brisbane and Women's Hospital.

The transplant is conventionally used to treat people with leukaemia, as it was known to reboot a patient's immune system.

Doctors opted for the radical move when Ms Pulling fell seriously ill from contracting the virus that typically causes glandular fever.

It was her development of full-blown fulminant infectious mononucleosis, after years in which she suffered the worse possible complications from otherwise routine infections that pointed doctors to her immune system and, ultimately, its signaling problems.

Dr Gandhi said that although the transplant was dangerous but it produces an amazing result.

Ms Pulling lives in northeastern NSW and she is now able to go back to her study. She is now completing her Bachelor of Business.

jm

Medicine Australia