Mutations to the rescue: genetic mutations are usually the source of debilitating disease. But, for a number of rare inherited blood and skin disorders, spontaneous …
M May - Nature medicine, 2011 - go.gale.com
M May
Nature medicine, 2011•go.gale.comAs a child, John bruised easily. After playing in the neighborhood park, he would come
home with bruises on his arms and legs from injuries he never even noticed. And, as the
youngest of six siblings growing up in the northeastern US, injury-inducing horseplay would
seem inevitable around the house, too. But his parents had a strict rule:" Unbeknownst to
me, none of my siblings were permitted to touch me," John says.John (not his real name)
suffers from a rare disease called Wiskott-Aldrich syndrome (WAS), an X-linked recessive …
home with bruises on his arms and legs from injuries he never even noticed. And, as the
youngest of six siblings growing up in the northeastern US, injury-inducing horseplay would
seem inevitable around the house, too. But his parents had a strict rule:" Unbeknownst to
me, none of my siblings were permitted to touch me," John says.John (not his real name)
suffers from a rare disease called Wiskott-Aldrich syndrome (WAS), an X-linked recessive …
As a child, John bruised easily. After playing in the neighborhood park, he would come home with bruises on his arms and legs from injuries he never even noticed. And, as the youngest of six siblings growing up in the northeastern US, injury-inducing horseplay would seem inevitable around the house, too. But his parents had a strict rule:" Unbeknownst to me, none of my siblings were permitted to touch me," John says.
John (not his real name) suffers from a rare disease called Wiskott-Aldrich syndrome (WAS), an X-linked recessive disorder characterized by recurrent infections, low platelet counts and an increased risk of autoimmune disorders and cancer. Yet, unlike two of his older brothers, both of whom died from the disease when they were each just five years old, John has managed to cope with his illness well into his 40s thanks to a phenomenon known as' revertant mosaicism, in which genetic mutations spontaneously correct themselves.
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