Heterozygous pathogenic variants in ADAR have been associated with dyschromatosis symmetrica hereditaria, while biallelic pathogenic variants have been associated with Aicardi-Goutières syndrome 6 (AGS6). However, the heterozygous variant c.3019G>A, (p…
Secukinumab, a monoclonal antibody targeting interleukin-17A, is effective for treating moderate-to-severe plaque psoriasis but may induce paradoxical inflammatory bowel disease, particularly Crohn’s disease. We describe a 41-year-old male with a histo…
Autoimmune glial fibrillary acidic protein astrocytosis (GFAP-A), a novel inflammatory autoimmune disorder of the central nervous system, manifests with insidious onset and demonstrates protean clinical manifestations, which frequently leads to diagnos…
BackgroundErdheim-Chester disease (ECD) is an exceedingly rare non-Langerhans histiocytosis. While often affecting the skeleton, cardiovascular system, and kidneys, pancreatic involvement remains uncommon and can mimic more prevalent conditions such as…
Therapeutic strategies for neuropsychiatric systemic lupus erythematosus (NPSLE) primarily target underlying pathogenic mechanisms and typically include corticosteroids, immunosuppressants, anticoagulation, and adjunctive treatments. B-cell–targeted bi…
We report a rare hematological immune-related adverse event (irAE) induced by durvalumab, an immune checkpoint inhibitor, after conversion surgery in a patient with intrahepatic cholangiocarcinoma (ICC). A 72-year-old male was admitted for recurrent IC…
BackgroundWhile consolidation immunotherapy after chemoradiotherapy (CRT) improves survival in limited-stage small cell lung cancer (LS-SCLC), some patients develop out-of-field progression during consolidation. Optimal management in such cases remains…
Synovitis, acne, pustulosis, hyperostosis, and osteitis (SAPHO) syndrome is a rare chronic inflammatory disease mainly manifested as skin and osteoarticular lesions. We describe a male patient with SAPHO syndrome who exhibited primary palmoplantar pust…
IntroductionNeuromyelitis optica spectrum disorder (NMOSD) is an immune-mediated, typically relapsing central nervous system demyelinating disorder characterized by optic neuritis (ON) and transverse myelitis (TM). While systemic or organ-specific auto…
A history of susceptibility to infections and a family history of death because of unexplained infections during infancy are helpful in diagnosing inborn errors of immunity (IEIs). However, infections can occur because of various reasons, and determini…
