Australian doctors identify new disease and devise its cure

A team of Australian doctors have identified a new disease and its cure. In their report published in the journal Clinical Infectious Diseases the doctors from The Queensland Institute of Medical Research (QIMR) report a case of a young NSW woman ill for almost a decade with repeated hospitalizations. She is now said to be suffering from a diseases that disabled the signaling processes of her immune system. The diseases is not named yet. Dr Maher Gandhi, head of QIMR's Immunohemotology Laboratory believes there are more cases of this disease. He said this Monday, “I haven't got a name for it other than T-cell signaling defect of which I assume there are quite a few different types… There are no recorded cases of this in the literature. Katie is unique ... I think we're at the tip of the iceberg here.”

About the case he said, “Katie presented with a range of symptoms when she was eleven. No one could identify her condition and no treatment had been successful. She did not respond to regular treatments and she continued to get sick, often complicated by life-threatening infections.”

The patient Katie Pulling aged 23 was treated successfully with a experimental bone marrow transplant using stem cells donated by her sister undertaken at the Royal Brisbane and Women's Hospital. Ms Pulling had fallen severely ill after she contracted virus for glandular fever or infectious mononucleosis. Usually these cases resolve without complications. However she developed problems with her immune system that led the doctors to finally diagnose the signaling problems of her immune system. Dr. Gandhi said, “The transplant was dangerous but the results were amazing…The defect in Katie's immune cells has been fixed and, to our knowledge, this is the first time this disorder has been reported….We hope this will help anyone who has presented with the same symptoms and has had no success with treatments.”

For the experimental bone marrow transplant Dr. Glen Kennedy was brought in. “We contacted Dr Glen Kennedy, an expert in bone marrow stem cell transplantation at the Royal Brisbane Hospital, to see if this might offer a cure,” said Dr. Gandhi.

Ms Pulling is a student of a Bachelor of Business degree. She is delighted with the results. She said, “I am now back to full time study and loving it…Now I don't get sick. I am really not used to it and keep waiting to get sick…I would like to thank the researchers for letting me know I was not completely alone in this fight and for shedding light on the reason for my illness. They devoted so much time and energy so I can live a normal life.”

QIMR’s Clinical Immunohaematology Laboratory is funded by the NHMRC, the Leukemia Foundation of Queensland, Cancer Council of Queensland and the Queensland Smart State initiative.

Dr. Ananya Mandal

Written by

Dr. Ananya Mandal

Dr. Ananya Mandal is a doctor by profession, lecturer by vocation and a medical writer by passion. She specialized in Clinical Pharmacology after her bachelor's (MBBS). For her, health communication is not just writing complicated reviews for professionals but making medical knowledge understandable and available to the general public as well.


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