http://www.bbc.co.uk/news/health-31145601
This story concerns a woman (currently in her 50s) who has such improbable luck that, most seriously, she should be a billionaire due to lottery winnings.
The woman did not want to be named, so we shall call her “Ms Whim”. She was the first identified case of WHIM syndrome more than 50 years ago.
W – warts
H – hypogammaglobulinemia (a state of immunological deficiency)
I – infections
M – myelokathexis (retention of neutrophils in the bone marrow) (a type of white blood cell)
Patients with Whim syndrome have a defect in a single section of their DNA, and that affects good functioning of their immune system. Typically, their bone marrow does actually create the white blood cells that are a key part of everyone’s immune system, but those cells are retained in the marrow & do not get out into the blood. Thus, Ms Whim was incredibly vulnerable to infection, particularly the human papillomavirus that leads to warts (see above, yuck) and an increased risk of cancer.
We are now already in rare territory:-
At the age of 58, Ms Whim sought out a team of researchers at the US National Institute of Allergy and Infectious Diseases to get her daughters tested (she had passed the condition down to two of her daughters). Dr Philip Murphy was doing the testing; he noticed that Ms Whim did not show any warts & asked her about that. Her reply caused his pupils to dilate: her warts had disappeared 20 years ago.
We are now beyond the stratosphere:-
Dr Murphy & the team worked to try to discover how that had happened; they traced it back to a mutation in a single cell in her bone marrow:
An event called “chromosomal shattering” occurred, in which a part of the DNA is rearranged, and which led to 164 genes being snipped out of her DNA. Crucially, one of those genes was the mutation causing her syndrome. Further, it took place in a stem cell that manufactures immune cells. Across time, that cell took over her entire bone marrow until Ms Whim had a new immune system that now could get it’s cells into her bloodstream. And lo! she was cured.
Ms Whim no longer has warts, is no longer susceptible to infections, and no longer has blood abnormalities.
There is one, lingering question: what role(s) did the other 163 genes have?
--------- Alex Kemp