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Št. zadetkov: 3
Evidence of B cell clonality and investigation into properties of the IgM in patients with Schnitzler syndrome
Shelly Pathak, Dorota Rowczenio, Samuel Lara-Reyna, Mark Kačar, Roger Owen, Gina Doody, Karoline Krause, Helen J Lachmann, Rainer Doffinger, Darren Newton, Sinisa Savic
Izvirni znanstveni članek
Oznake: autoinflammatory diseases;IgM;
The Schnitzler Syndrome (SchS) is an acquired, autoinflammatory condition successfully treated with IL-1 inhibition. The two main defining features of this late-onset condition are neutrophilic urticarial dermatoses (NUD) and the presence of an IgM monoclonal component. While the former aspect has b ...
Leto: 2020 Vir: Digitalni repozitorij raziskovalnih organizacij Slovenije
Current transition practice for primary immunodefciencies and autoinfammatory diseases in Europe
Israni Muskan, Bethany Nicholson, Nizar Mahlaoui, Laura Obici, Linda Rossi-Semerano, Helen J Lachmann, Georgia Hayward, Mojca Zajc Avramovič, Aurelien Gufroy, Virgil Dalm
Izvirni znanstveni članek
Oznake: sindrom akutne dihalne stiske;Transition;primary immunodefciencies;autoinfammatory diseases;network;
Background: Due to the absence of curative treatments for inborn errors of immunity (IEI), children born with IEI require long-term follow-up for disease manifestations and related complications that occur over the lifespan. Effective transition from pediatric to adult services is known to significa ...
Leto: 2023 Vir: Digitalni repozitorij raziskovalnih organizacij Slovenije
Mevalonate kinase deficiency
Lilla Lengvári, Kata Takács, Anna Lengyel, Annamária Pálinkás, Carine Wouters, Isabelle Kone-Paut, Jasmin B Kuemmerle-Deschner, Jerold Jeyaratnam, Jordi Anton, Helen J Lachmann, Nataša Toplak
Pregledni znanstveni članek
Oznake: mevalonate kinase deficiency;diagnosis;genetics;treatment;guidelines;
Mevalonate kinase deficiency (MKD), a rare auto-inflammatory disorder, arises from mutations in the MVK gene, disrupting isoprenoid biosynthesis, and affecting cellular processes. This comprehensive review provides an updated perspective on MKD, including its aetiology, pathogenesis, diagnostic moda ...
Leto: 2024 Vir: Digitalni repozitorij raziskovalnih organizacij Slovenije
Št. zadetkov: 3
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