Latest news with #immuneSystem
The Independent
5 days ago
- Health
- The Independent
‘Life-changing' drug for teenager who lost mother, aunt and uncle to condition
A teenager who lost her mother, aunt and uncle to a genetic condition has become the first person in Europe to receive a 'life-changing' drug after it was approved for use on the NHS. Mary Catchpole, 19, suffers from activated PI3-Kinase delta syndrome (APDS), a rare inherited disorder that leaves people with a significantly weakened immune system. Patients with APDS are vulnerable to repeated infections and face a lifetime of antibiotics and invasive procedures to try and keep them well. Miss Catchpole's mother's side of the family has been badly affected by APDS – her mother Sarah died aged 43 in 2018, while her aunt Helen died aged 12, her uncle Edward when he was 39 and her grandmother Mary when she was 48. Now, thanks to researchers in Cambridge who identified APDS, Miss Catchpole has received a new drug to treat it at Addenbrooke's Hospital in Cambridge. The medicine, called leniolisib (Joenja), is the first ever targeted treatment for APDS and is a simple tablet taken twice a day. Miss Catchpole is a teaching assistant who lives in Great Yarmouth with her father Jimmy, 64, and brother Joe, 20, who does not have the condition. She told the PA news agency: 'I was diagnosed with APDS aged seven and it's had a big effect on my life. 'I had lots of cannulas when I was younger and lots of hospital trips. 'I had a permanent line in the side of my body when I was younger which they put medicine in regularly at the hospital. 'I wasn't allowed to do very much physical activity so I had to sit out a lot in PE at school. 'I used to be called an attention-seeker because obviously it was hidden, so no-one really believed me. 'It also stopped me from doing a lot of my dancing, which I've always loved to do. So it has been hard.' Miss Catchpole said taking the new drug is 'life-changing' as it means she can leave behind huge amounts of medication. She added: 'I feel really blessed because it's so simple to do and it doesn't take up very much time, whereas for the medication, it just takes such a long time to do. 'So it's really a blessing, but it's also obviously bittersweet because my late family members never got the chance to have it.' APDS was identified by Cambridge researchers in 2013, with Miss Catchpole's family playing a key role in its discovery. Her mother and uncle were Addenbrooke's patients and were offered DNA sequencing to see if there was a genetic cause for their immunodeficiency. Researchers identified a change in their genes that increased activity of an enzyme called PI3-Kinase delta – meaning this enzyme is effectively 'switched on' all the time. This prevents immune cells from fighting infection and leads to an abnormal immune function. The new drug works by inhibiting the enzyme, effectively normalising the immune system. Now, Miss Catchpole says she can look to the future with optimism and is excited to lead a normal life. 'I really want to become a dance teacher,' she said. 'I absolutely love my current job as a teaching assistant but I'd also like to go on some adventures as well. 'I've always felt different so it will be nice to feel like I belong. 'When I had sleepovers when I was younger and had to take all my medication with me, I didn't feel like a normal child. 'To be able to feel normal going about my day-to-day life is going to be really nice.' Until now, the only treatments for APDS patients were antibiotics for infections, immunoglobulin replacement therapy to prevent infections and organ damage, and a bone marrow or stem cell transplant. Dr Anita Chandra, consultant immunologist at Addenbrooke's and affiliated assistant professor at the University of Cambridge, said: 'It is incredible to go from the discovery of a new disease in Cambridge to a treatment being approved and offered on the NHS within the space of 12 years. 'This new drug will make a huge difference to people living with APDS.' Professor Sergey Nejentsev, from the University of Cambridge who led the research that discovered APDS, said: 'As soon as we understood the cause of APDS, we immediately realised that certain drugs could be used to inhibit the enzyme that is activated in these patients. 'Leniolisib does precisely that. I am delighted that we finally have a treatment which will change the lives of APDS patients.' Professor James Palmer, NHS England's medical director for specialised commissioning, said: 'We're delighted to see Mary become the first patient in Europe to receive this first ever targeted and approved therapy for a rare condition identified just over a decade ago – in Cambridge no less. 'This treatment could be life-changing for those affected by this debilitating genetic disorder, and this important step forward is another example of the NHS's commitment to offering access to innovative medicines for those living with rare conditions.' Experts believe the drug will work long-term in patients as long as they keep taking the tablets. Researchers are now looking at the potential for leniolisib to work on other, more common immune conditions. Patients eligible for leniolisib can be referred to Addenbrooke's for specialist review and care. Between 40 to 50 people in England are known to have APDS. The list price for leniolisib is £352,000 per person per year but the company Pharming has agreed a discount for the NHS. The team that discovered APDS included researchers from the University of Cambridge, Babraham Institute, Medical Research Council (MRC) Laboratory for Molecular Biology, and Addenbrooke's, with funding from Wellcome and the National Institute for Health and Care Research (NIHR).
E&E News
5 days ago
- Health
- E&E News
Wildfire smoke alters human immune system — study
Exposure to wildfire smoke can affect the human immune system, according to a new study that adds to mounting evidence of the potential health risks posed by increasingly larger and prolonged blazes. The study, published Thursday in the journal Nature Medicine, is billed as the first to examine the specific cellular changes stemming from smoke inhalation. In looking at two roughly equal groups of people, researchers at Harvard University's T.H. Chan School of Public Health found that those exposed to wildfire smoke registered an increase in a type of immune cells tied to long-term protection against disease-causing pathogens. They also showed changes in 133 genes related to allergies and asthma, according to a news release summarizing the results. Advertisement 'Our findings demonstrate that the immune system is extremely sensitive to environmental exposures like fire smoke, even in healthy individuals,' said Mary Johnson, principal research scientist in the school's Department of Environmental Health and the study's lead author, in the release.
Health Line
6 days ago
- Health
- Health Line
Is Hidradenitis Suppurativa An Autoimmune Disease?
If you have hidradenitis suppurativa (HS), you may have heard people call it an autoimmune disease. But research from the past few years shows that's not quite accurate. Experts now say HS is better understood as an autoinflammatory condition. Autoimmune diseases happen when your body's immune system attacks healthy tissue by mistake, usually involving specific antibodies. But with autoinflammatory conditions, your body's built-in immune defenses overreact without any clear reason, causing inflammation, pain, and swelling. A 2023 study looked at a part of the immune system called the AIM2 inflammasome and found that it plays a key role in triggering HS. This supports the idea that HS is caused by an overactive immune response, not by the body attacking itself like it does in autoimmune diseases. In 2024, researchers placed HS in a group of conditions called autoinflammatory keratinization diseases. These involve skin inflammation and blocked hair follicles, not the kind of immune system behavior seen in classic autoimmune illnesses. More recent research from 2025 focused on a specific immune protein called IL-17, which drives inflammation in HS. Treatments that block IL-17 are showing promise, which aligns with the idea that HS is rooted in inflammation, not autoimmunity.
RNZ News
23-06-2025
- Health
- RNZ News
Our Changing World New Insights from an Old Vaccine
The story of tuberculosis goes back to the start of recorded human history, and since the 1800s it’s estimated it has been responsible for over 1 billion deaths. In New Zealand today we don’t have get many cases of the disease, but worldwide it is the leading infectious disease killer. In the early 1900s a vaccine was developed â€" the BCG vaccine â€" and it is still in use around the world. While it is still the best vaccine there we have at the moment, it is not great at its job of preventing TB infection, only providing some protection for the youngest of patients. However, scientists have discovered that the vaccine is able to boost people’s immune systems in other ways and gives them protection against some respiratory viruses, and sepsis. Now researchers at the Malaghan Institute in Wellington are further investigating these findings to figure out how we can better prepare our immune systems to help us fight disease. To embed this content on your own webpage, cut and paste the following: See terms of use.
Forbes
21-06-2025
- Health
- Forbes
2 Ways That ‘Childhood Trauma' Rewires The Brain — By A Psychologist
Research reveals how childhood trauma restructures the brain and immune system in ways that can last ... More well into adulthood. Most well-informed people are aware of how often traumatic childhood experiences are associated with serious mental health conditions later in life. What few people know, however, is how exactly trauma gives rise to these disorders. Some attribute it to emotional scarring, or psychological wounds that live only in the mind. But according to 2022 research from Brain, Behavior, & Immunity - Health, these wounds are in no way metaphorical. To the brain, trauma can be as real and physical as a cut, a burn or a broken bone. Here are two major ways that childhood trauma physically reshapes the brain, essentially rewiring individuals biologically. 1. Trauma Trains The Body And Brain To Stay On High Alert When a child is exposed to repeated threats, their body and brain have no choice but to adapt. And one of the first systems to respond, in such cases, is the immune system. As you may already know, the immune system's primary purpose is to protect us in situations it perceives to be risky. In most cases, this pertains to illness, injury, infections, viruses, bacteria and so on — but also to stressful situations. Should it sense a threat of any of these kinds, it readies itself to respond. But when abuse, neglect or instability are the norm in a child's life, their immune system remains ready and activated. The body cannot afford to respond to these environmental stressors in the way it would to a specific, localized or short-lived threat; constant threats necessitate constant vigilance. As such, since the immune system believes it's permanently at risk, it operates accordingly at all times. It produces chemical messengers — specifically, inflammatory molecules — to protect the body from infection or injury, but in extreme excess. However, without any physical wounds to tend to, this overproduction gives rise to chronic inflammation. Astoundingly, the 2022 study discovered elevated levels of these inflammatory markers years, even decades, after the participants' trauma. Typically, these inflammatory molecules are transmitted via the bloodstream to whichever site they're needed; in healthy individuals, the blood-brain barrier (BBB) usually prevents them from entering the brain. But, with enough exposure to trauma, this barrier can become much easier to bypass. As a result, these molecules begin crossing into the brain, where they're not usually meant to go. Once they cross the barrier, they begin to interfere with key neurological functions. This, in turn, can significantly impact a child's mood, memory or attention. Notably, if the body never gets the message that it's safe — that is, if a child is constantly exposed to trauma without any breaks — this state of hypervigilance can eventually give rise to serious mental health challenges. And, in severe cases, the brain's physical architecture begins to shift in response to the ongoing sense of danger. 2. Trauma Can Cause White Matter To Fray To understand what this chronic inflammation can do, it helps to think of the brain in the same way you would a town, rather than just an arbitrary collection of parts or lobes. This town is built with two primary materials: white and gray matter. In the simplest of terms, white matter is what keeps your brain running smoothly. It comprises billions of long, fibrous threads that allow your most important brain regions (your gray matter) to communicate with one another. In this case, gray matter would be the neighborhoods of the town, where your thoughts and feelings 'live.' White matter, on the other hand, is the highway system they use to travel. According to the 2022 study, individuals with bipolar disorder who had experienced adverse childhood experiences showed clear signs of white matter disruption. Specifically, their brain scans revealed lower levels of fractional anisotropy, which is a measure used to assess how coherent and structured these white matter tracts are. In essence, the aforementioned inflammation can result in lasting damage to an individual's white matter. In most cases, this means the brain's internal communication system will function less efficiently than that of a person without trauma. When white matter is intact and well-organized, it acts much like well-planned and well-looked after roads: information moves quickly and efficiently across the brain. But once white matter connections are lost, tangled or damaged, those signals slow down or get misrouted — much like cars do on a road with potholes, cracks or fading paint. This is exactly what the brain looks like when it's frequently exposed to trauma in early life: a collection of unkempt, interconnected roads, on which cars struggle significantly to travel. And this kind of 'unkemptness' in the brain's highway system has very real, functional consequences. The study notes that damage to the white matter's structural integrity can lead to miscommunication between some of the brain's most essential regions. In turn, it's considerably more challenging for the emotional centers of the brain to communicate with the areas responsible for logic and regulation. This can lead to dysfunction in: As a result, an individual might feel perpetually on edge without ever really knowing why. Even in situations where they have every logical reason to feel safe, they might struggle to calm themselves down. And despite immense exhaustion or tiredness, they might find themselves lying wide awake at night. Even the smallest, most inconsequential decisions can feel overwhelming, since the mental routes that once effortlessly facilitated those processes can feel as though they're punctuated with delays and detours. Unfortunately, these responses can persist well into adulthood, and well past their years of trauma. That said, this doesn't mean that the brain is 'broken,' nor that it has 'failed.' It just means that the brain has adapted to danger and inflammation in the only way it was designed to: by reinforcing defensive pathways to protect itself. When faced with trauma, the brain makes an executive decision to prioritize survival over flexibility — even if that means day-to-day functioning might be a bit more difficult later on in life. This is a sign of resilience, not failure. The effects of trauma can linger, but so can resilience. Take this science-backed test to find out how you respond to life's challenges: Brief Resilience Scale
