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Grace Browne
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In Greenland, in January 2021, a child just under two years old was sick, very sick. And his doctors couldn’t understand why. I had a fever, vomiting, seizures. Meningitis is suspected to be the cause; A diagnosis of tuberculosis was also initiated. The boy was transferred to Copenhagen, to the Rigshospitalet, Denmark’s largest hospital, for further evaluation.
In March, the boy’s doctors were no closer to understanding why he wasn’t getting better. So they contacted Trine Mogensen, a professor of immunology at Aarhus University in Denmark. “We didn’t know what this infection was. And there was no evidence of bacterial infection or tuberculosis,” says Mogensen. Bewildered, she and her team sequenced the boy’s genome to see if it revealed any clues. “Surprisingly, it looked like there was a genetic mutation,” he says.
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What they discovered is a mutation in the gene encoding IFNAR2, a protein that binds to type I interferons. Interferons are a circle of protein relatives that play an essential role in the fight against viral infections. Without type I interferons working well, the child would not be able to develop any immune reactions to viruses such as Covid-19 and influenza.
However, it was not yet clear which virus the child was facing. Mogensen then contacted Christopher Duncan, a medical scientist studying viral immunity and interferons at Newcastle University in the UK. Duncan had been looking for the same genetic mutation for several years, first documenting it in a 2015 paper in the journal Science Translational Medicine. In this paper, he and his colleagues had discovered the genetic variant in an Irish family. A 13-month-old baby had suffered a severe case of encephalitis: Inflammation of the brain: after receiving the MMR vaccine, which includes living (but weakened) bureaucracy of the measles, mumps and rubella viruses. The child’s illness eventually proved fatal.
After the publication of this paper, Duncan and his colleagues were contacted through researchers in Alaska, who knew some young, unrelated people who had suffered primary disorders with several viruses and had the same genetic variant. He also warned about the presence of two young people in northern Canada with a similar condition.
Knowing this, Mogensen and Duncan saw the Greenland boy again and nevertheless found out the root of his condition. They found out that 3 weeks before he got sick, he had also been vaccinated with the live MMR vaccine. The child survived and is now healthy. ) Duncan and Mogensen published their findings in April in the Journal of Experimental Medicine.
But now the team was looking to find out if there were more people using this uncatalogued genetic mutation. They found that the Greenland child and alaskan children were all of Inuit or Alaska Native descent. They reviewed the genetic records of 5,000 Inuit and found that the variant is strangely common: in fact, 1 in 1500 people in the Inuit population carried it. “It’s incredibly amazing,” Duncan says.
The very prevalence of this variant in the Inuit population, and the fact that it has gone unnoticed for so many years, is the desirable component of the puzzle. The genetic variant likely arose from the “founder effect,” in which several other people end up carrying a mutation from a non-unusual ancestor. The effect has an end that is observed in populations that are distinguished from relatively small teams of other people and do not combine much with strangers. the mutation can spread further,” says Mogensen.
Most likely, many more young people died from using this genetic variant before it was discovered. “Only recently are we achieving genetic research,” says Mogensen. la sequencing becomes less expensive and more popular, especially in remote populations. “I think you’ll come up with a lot of explanations for this massive interindividual variation that we see in the way other people get sick. “(The effects also highlight the importance of cataloguing the genomes of people other than Europeans. )
Mogensen now needs to take a look at more samples from beyond to get a clearer picture of the frequency of this genetic mutation. If it were widespread enough, there would possibly be a justification for adding the genetic mutation to newborn screening in countries with Inuit populations. This would mean that children who carry the mutation will not receive the live MMR vaccine, for example. The team is in talks recently with Greenland’s chief medical officer, Mogensen said.
Much of the existing wisdom in immunology has been received through paintings on animal models, a reproduction less than the best of the subtleties of the human immune machinery. Cases like those documented by Duncan and Mogensen can uncover how immune proteins, such as interferons, paints and fight infections, and underscore how indispensable they are. When you can see what’s going on in humans who lack an immune system component, Duncan says, “that’s absolute and definitive evidence of what you’re doing. “
This notice is part of an expanding immunology box looking for a genetic basis for immune deficiencies, the so-called inborn errors of immunity. Scientists are just beginning to realize how many immunological mysteries can be explained through a genetic mutation. To date, more than 400 “inborn errors of immunity” have been documented, with no symptoms of curbing that number. “Every day we notice more,” says Ivan Zanoni, an immunologist at Harvard Medical School and Boston Children’s Hospital.
Jean-Laurent Casanova, director of the St. Giles Laboratory of Human Genetics of Infectious Diseases at Rockefeller University, one of the spearheads of the movement. At the same point in the journal that published Mogensen and Duncan’s findings, Casanova and his colleagues describe a similar genetic variant situation in seven young people from some other remote population: Western Polynesians. All the young men were of Western Polynesian origin. ” We think it may be a coincidence,” he says.
However, this time, the mutation referred to the gene encoding IFNAR1, some other protein that binds to type I interferons. They tested whether this genetic variant may simply be of Western Polynesian origin, through the decryption effect and thus analyzed populations around the world. Pacific, from Taiwan to eastern French Polynesia. “To our surprise, we found that the allele is really Polynesian,” Casanova says. “In Western Polynesia in particular, it is a common allele,” meaning it can be found in more than 1% of the population.
Not only that, they found that the seven young men had suffered adverse reactions to the MMR vaccine, as well as the yellow fever vaccine — some other vaccine containing a live virus — and were also seriously ill with a viral infection. Four of the seven young men died. But the main indicator of using the variant, the researchers agreed, was an adverse reaction to the MMR vaccine. Following the publication of the article, the Australian fitness government issued a warning to fitness service providers, stating that young people of Western Polynesian origin who are very ill in the weeks following the MMR vaccine will likely want to be evaluated for immunodeficiency.
The biggest surprise, Casanova says, is that even without type I interferons, Americans can still cope with many viruses. While it was true that those proteins were essential to fight all viral infections, those IFNAR1 or IFNAR2 mutations would not be so unusual in remote populations, he argues.
Zanoni takes a slightly different position. He believes that the remoteness of those populations protected them from exposure to all the viruses that the continent’s population could have encountered, allowing the variant to be passed down from generation to generation. in this population it suggests that it was decided negatively in the general population of the continent,” he says.
Mogensen has another theory. ” We think that since it has become so widespread, it would possibly have been a merit to have this mutation,” he says. The concept here is that it may also have opposed other infectious diseases, such as tuberculosis, but that’s still natural speculation, she says.
Either way, many other people around the world walk down the street without this immune protein, Casanova says. “It’s just mind-blowing. “
Updated on 05/18/2022 at 6:30 a. m. ET: This story has been corrected to imply that the seven young people described in the article through Casanova et al. they are all of Western Polynesian origin, all of Samoan origin.
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