BBC News, James
Gallagher, Health editor, 8 Feb 2015
One of the symptoms is uncontrolled warts |
A woman
with a rare disease has been spontaneously cured in an event so improbable
doctors say it is the medical equivalent of a lottery win.
The woman
in her 50s, who is not being named, was plagued by warts and infections as part
of "WHIM syndrome" - caused by a defective immune system.
But US
doctors say a fluke DNA mutation, reported in the journal Cell, effectively
cured her in her 30s.
One doctor
said the odds of it happening were "astronomically low".
'Pupils
dilated'
Patients
with WHIM syndrome have a defect in a single section of their DNA.
They are
still able to make the cells that form the immune system, but these get stuck
in the bone marrow where they are produced.
The
patients are left incredibly vulnerable to infection, particularly the human
papillomavirus that leads to warts and an increased risk of cancer.
The woman,
who has asked doctors not to reveal her name, was the first identified case of
WHIM syndrome more than 50 years ago.
But at the
age of 58, she 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, but Dr Philip Murphy who was
doing the testing was in for a shock.
"My
pupils dilated when she said her warts had disappeared 20 years ago," he
told the BBC News website.
The team
then tried to figure out how this "miracle case" occurred.
'Remarkable'
The cure
was traced back to a mutation in a single cell in her bone marrow.
An event
called "chromosomal shattering" in which a part of the DNA is
rearranged led to 164 genes being lopped out of her DNA.
Crucially
this included the mutated one that was causing the problem.
If this had
happened in a muscle cell it would have made no difference to her. But it took
place in a stem cell that manufactures immune cells.
That cell
was able to gradually take over the bone marrow and was the starting point for
a new immune system that could get into the bloodstream.
Dr Murphy
told the BBC News website: "It is really kind of remarkable, she started
out as this very unlucky girl and ended up winning the lottery by having this
incredibly rare event, the only one reported in the world to date that
basically.
"She
no longer has warts, is no longer [more] susceptible to infections and no
longer has blood abnormalities.
"The
odds are astronomically low."
He hopes a
deeper understanding of the disease could lead to a treatment or even better
ways of carrying out bone marrow transplants.
Prof Andrew
Jackson, from the MRC Human Genetics Unit in Edinburgh, told the BBC:
"This is an interesting tale.
"I see
patients with genetic disorders all the time and it's often 'what you're born
with is what you're left with' so spontaneous resolution is something we
wouldn't expect or hope for."
He said
there had been "similar tales" in other conditions but this was
coupled with excellent science "giving biological insight" into the
syndrome.
He also said
it was important to find out what role the other 163 genes that were affected
by the mutation had.
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