Catherine Lord, Traolach S Brugha, Tony Charman, James Cusack, Guillaume Dumas, Thomas Frazier, Emily J H Jones, Rebecca M Jones, Andrew Pickles, Matthew W State, Julie Lounds Taylor, Jeremy Veenstra-VanderWeele
{"title":"Author Correction: Autism spectrum disorder.","authors":"Catherine Lord, Traolach S Brugha, Tony Charman, James Cusack, Guillaume Dumas, Thomas Frazier, Emily J H Jones, Rebecca M Jones, Andrew Pickles, Matthew W State, Julie Lounds Taylor, Jeremy Veenstra-VanderWeele","doi":"10.1038/s41572-026-00706-w","DOIUrl":"https://doi.org/10.1038/s41572-026-00706-w","url":null,"abstract":"","PeriodicalId":18910,"journal":{"name":"Nature Reviews Disease Primers","volume":"12 1","pages":""},"PeriodicalIF":76.9,"publicationDate":"2026-04-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147777106","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
David B Beck, Sophie Georgin-Lavialle, Yohei Kirino, Bhavisha A Patel, Samuele Ferrari
{"title":"VEXAS syndrome.","authors":"David B Beck, Sophie Georgin-Lavialle, Yohei Kirino, Bhavisha A Patel, Samuele Ferrari","doi":"10.1038/s41572-026-00695-w","DOIUrl":"10.1038/s41572-026-00695-w","url":null,"abstract":"<p><p>VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome is a disorder discovered in 2020 that bridges haematology, immunology and genetics. VEXAS syndrome arises from somatic mutations in UBA1, which encodes an E1 ubiquitin-activating enzyme, acquired in haematopoietic stem cells. These mutations disrupt ubiquitin-dependent protein homeostasis, triggering proteotoxic and inflammatory stress that drives systemic inflammation, cytopenias and clonal haematopoiesis. Clinically, VEXAS syndrome presents predominantly in older men with glucocorticoid-dependent inflammation, neutrophilic dermatoses, chondritis and myelodysplastic features. Diagnosis relies on characteristic clinical features and confirmation of UBA1 mutations. Prognosis is dismal in many patients, and treatment remains largely empirical. Glucocorticoids and cytokine blockade are used to provide transient control over inflammation, and hypomethylating agents aim to eradicate the mutant clone and induce disease remission. Allogeneic stem cell transplantation offers a potential cure. VEXAS syndrome exemplifies a new paradigm linking somatic genetics, inflammation and clonal haematopoiesis, reshaping our understanding of adult-onset inflammatory disease.</p>","PeriodicalId":18910,"journal":{"name":"Nature Reviews Disease Primers","volume":"12 1","pages":""},"PeriodicalIF":79.8,"publicationDate":"2026-04-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147699176","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Kai Spiegelhalder, Chiara Baglioni, Charles M Morin, Christoph Nissen, Laura Palagini, Michael L Perlis, Hannah Scott, Dieter Riemann
{"title":"Insomnia disorder.","authors":"Kai Spiegelhalder, Chiara Baglioni, Charles M Morin, Christoph Nissen, Laura Palagini, Michael L Perlis, Hannah Scott, Dieter Riemann","doi":"10.1038/s41572-026-00693-y","DOIUrl":"10.1038/s41572-026-00693-y","url":null,"abstract":"<p><p>Insomnia disorder (ID) causes both night-time and daytime symptoms. Night-time symptoms include subjective difficulties initiating and maintaining sleep and early morning awakenings, whereas fatigue, perceived impairments in cognitive functioning, and mood disturbances are common daytime symptoms. The prevalence of ID in adults is high (10-16%) and the condition represents a substantial burden for both patients and society. ID is also an independent risk factor for other mental disorders and physical diseases. Diagnosis relies on self-report, as a biomarker for the disorder has not yet been established. The aetiological and pathophysiological understanding of ID spans from epigenetic and genetic research to cognitive behavioural and psychophysiological approaches. Clinical guidelines recommend cognitive behavioural therapy for insomnia (CBT-I) as the first-line treatment. However, CBT-I still requires widespread implementation, with digital CBT-I offering a scalable solution to improve treatment accessibility. Most available hypnotic agents are recommended solely for short-term use, owing to their limited efficacy and potential adverse effects. Given the considerable proportion of patients who respond insufficiently to medications and the need for further research on CBT-I, the development of novel interventions and the refinement of existing treatments is urgently required.</p>","PeriodicalId":18910,"journal":{"name":"Nature Reviews Disease Primers","volume":"12 1","pages":""},"PeriodicalIF":79.8,"publicationDate":"2026-04-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147645690","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Franc Strle, Klemen Strle, Adriana Marques, Anna J Henningsson, Randi Eikeland, Jacob E Lemieux, Jean I Tsao, Paul S Mead, Gary P Wormser
{"title":"Lyme borreliosis.","authors":"Franc Strle, Klemen Strle, Adriana Marques, Anna J Henningsson, Randi Eikeland, Jacob E Lemieux, Jean I Tsao, Paul S Mead, Gary P Wormser","doi":"10.1038/s41572-026-00691-0","DOIUrl":"10.1038/s41572-026-00691-0","url":null,"abstract":"<p><p>Lyme borreliosis is the most common tick-borne disease in the northern hemisphere. It is a zoonosis caused by several species of Borrelia burgdorferi sensu lato and transmitted by the bite of infected ticks of the Ixodes ricinus complex. Lyme borreliosis in North America and Europe differs in certain respects, likely reflecting the different Borrelia species that cause human disease in these locations. The earliest manifestation of Lyme borreliosis is the skin lesion erythema migrans, which develops at the tick bite site, typically 7-14 days after the bite. Some untreated patients will then (within the first few weeks or months after onset of the infection) develop additional erythema migrans skin lesions or other clinical manifestations such as borrelial lymphocytoma, nervous system involvement or carditis. Several months or even years after infection onset, Lyme arthritis or acrodermatitis chronica atrophicans may develop. The diagnosis of typical erythema migrans is clinical, whereas for all other manifestations the diagnosis is supported via serological testing. Treatment with an appropriate antibiotic will result in resolution of clinical symptoms in most patients; however, some patients experience prolonged subjective symptoms, which usually improve over time. Repeated courses of antimicrobials are not beneficial except in rare cases when there is objective evidence of treatment failure.</p>","PeriodicalId":18910,"journal":{"name":"Nature Reviews Disease Primers","volume":"12 1","pages":""},"PeriodicalIF":79.8,"publicationDate":"2026-03-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147521410","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Melanie J Davies, Soo Lim, Tommy Slater, Jonathan Goldney, Athena Philis-Tsimikas, Denise R Franco, Roberta Lamptey, Thomas Yates, Tsvetalina Tankova, Ildiko Lingvay
{"title":"Type 2 diabetes mellitus.","authors":"Melanie J Davies, Soo Lim, Tommy Slater, Jonathan Goldney, Athena Philis-Tsimikas, Denise R Franco, Roberta Lamptey, Thomas Yates, Tsvetalina Tankova, Ildiko Lingvay","doi":"10.1038/s41572-026-00687-w","DOIUrl":"10.1038/s41572-026-00687-w","url":null,"abstract":"<p><p>Type 2 diabetes mellitus (T2DM) is a chronic, progressive disease driven by a complex interplay of genetic, biological, behavioural and social factors. The epidemiology of T2DM has shifted considerably, largely attributable to increasing obesity rates. Furthermore, T2DM prevalence is increasing in younger people (diagnosis <40 years of age; early-onset T2DM), which is associated with more aggressive disease progression, higher risk factor burden, earlier and more severe complications, and greater lifetime morbidity than later-onset T2DM. T2DM is traditionally associated with a high risk of microvascular and macrovascular complications, although rates of cardiovascular complications have reduced in some high-income countries. Currently, emerging and non-traditional diabetes complications, such as those related to mental health and cognitive function, are being recognized, and people with T2DM increasingly experience multimorbidity and reduced quality of life. Additionally, a growing prevalence of obesity has resulted in high rates of obesity-related complications. Novel therapies and technologies may offer considerable benefit, although socioeconomic disparities may exacerbate barriers to effective prevention and equitable access. The complex nature of T2DM and its comorbidities underscores the urgent need for a person-centred, holistic approach that integrates glucose and weight management with broader attention to comorbidities, 24-h physical behaviours, psychosocial well-being and social determinants of health.</p>","PeriodicalId":18910,"journal":{"name":"Nature Reviews Disease Primers","volume":"12 1","pages":""},"PeriodicalIF":79.8,"publicationDate":"2026-03-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147486522","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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