Trained immunity in autoinflammatory diseases: Cellular reprogramming across the monogenic-polygenic spectrum.
Trained immunity, an innate immunological memory induced by epigenetic and metabolic reprogramming, has changed the paradigm of host defense and pathogenesis of chronic inflammatory disease. Unlike adaptive immunological memory, trained immunity is characterized by the ability of innate immune cells…
Adult-onset Still's Disease Presenting with Prolonged Fever, Polyarthralgia, and Hyperferritinemia: A Case Report.
Adult-onset still's disease (AOSD) is a rare systemic inflammatory disorder characterized by quotidian fever, inflammatory arthritis, rash, and markedly elevated serum ferritin levels. Due to its nonspecific presentation and the need to exclude infectious, autoimmune, and malignant etiologies, diagn…
Association of elevated serum active IL-18 levels with cytokine profiles and clinical features in adult-onset still's disease.
Inflammasome-mediated activation of interleukin (IL)-1β and IL-18 plays a key role in the pathogenesis of adult-onset Still's disease (AOSD), a systemic autoinflammatory disorder. The cleaved free active form of IL-18 may more accurately reflect inflammasome activity than total IL-18, which includes…
Clinical, genetic, and functional characterization of novel NFKB1 variants in Chinese patients with primary immunodeficiency.
The nuclear factor κB (NF-κB)-related disorders encompassed not only common variable immunodeficiency but also manifestations of autoinflammation, autoimmunity, and malignancies. While most cases have been reported in European populations, reports in the Chinese population are sparse. Clinical data…
A Rare Differential for Myalgia and Fever Associated With Cervical and Axillary Lymphadenopathy Presenting via Same Day Emergency Care.
Kikuchi-Fujimoto disease (KFD) is a rare, self-limiting necrotising lymphadenitis, mainly affecting young adults, and commonly presenting with fevers and lymphadenopathy. Diagnosis is confirmed by histopathological examination via lymph node biopsy, and management is primarily supportive with non-st…
Nasal septal perforation in adult Still's disease.
Adult-onset Still's disease (AOSD) is a rare systemic inflammatory disorder characterized by fever, rash, arthritis, and pharyngitis. Ear, nose, and throat (ENT) complications beyond pharyngitis are uncommon. A 31-year-old female presented with fever, sore throat, maculopapular rash, and arthritis.…
Contribution to the debate on the origin of autoimmune joint diseases in Europe through an archaeological case of still's disease.
The objective of this study is twofold: (i) to evaluate the bony changes of an early medieval skeleton (UF2) from Barcelona, which presents lesions suggestive of Still's disease and (ii) to contribute to the debate concerning the existence of autoimmune joint diseases in Europe prior to Columbus's v…
[A rare differential diagnosis of fever of unknown origin].
A 22-year-old male patient with a clinical picture similar to that of sepsis was diagnosed with macrophage activation syndrome in adult Still's disease on the basis of clinical and laboratory criteria. The diagnostic work-up included the differentiated clarification of a persistent fever syndrome an…