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 periorbital erythematous rash and progressive interstitial lung disease.
A man in his 80s with chronic obstructive pulmonary disease presented with fever, arthralgia and periorbital erythema resembling a heliotrope rash, accompanied by progressive interstitial lung disease (ILD). Laboratory investigations revealed neutrophilic leucocytosis and markedly elevated C-reactiv…
Comparative analysis of inflammation and fever of unknown origin: Diagnostic processes and etiological spectrum.
We aimed to evaluate the diagnostic process and etiological spectrum of inflammation of unknown origin (IUO) and fever of unknown origin (FUO). Retrospectively, 8821 patients were evaluated between 2010 and 2024. 168 patients with IUO and 88 with FUO were included in the study. The demographic, clin…
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. Cl…
Causal Associations Between Nine Autoimmune Diseases and Idiopathic Thrombocytopenic Purpura: A Mendelian Randomization Study.
Clinical evidence suggests the presence of comorbidity between Autoimmune diseases (ADs) and secondary Idiopathic thrombocytopenic purpura (ITP), whereas the underlying causal relationship remains to be established. This study employed Mendelian Randomization (MR) analysis to investigate potential c…
A Case of Glucocorticoid-Resistant VEXAS Syndrome Successfully Treated with Baricitinib.
VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome, caused by somatic mutations in UBA1, can mimic adult-onset Still's disease (AOSD) and is often refractory to glucocorticoids. We report a case of VEXAS syndrome in a man in his seventies who had initially been treated as AOSD…
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.…