IntroductionX-linked lymphoproliferative disease type 1 (XLP1) is an inborn error of immunity (IEI) caused by pathogenic variants in the SH2D1A gene, leading to severe immune dysregulation, often triggered by Epstein-Barr virus (EBV) infection. Hemopha…
Recent advances in chimeric antigen receptors have provided an alternative approach for treating relapsed acute lymphocyte leukemia after allogeneic hematopoietic stem cell transplantation (allo-HSCT). However, relapsed patients who had undergone allog…
Ichthyoses, a group of skin cornification disorders caused by protein and lipid abnormalities that disrupt epidermal functions, are mainly characterized by generalized scaling. This study is the first to report the use of Vunakizumab, China’s first sel…
Two ATPase subunits, SMARCA4 (which encodes BRG1) and SMARCA2 (which encodes BRM), facilitate this process by hydrolyzing ATP to energize the activity of the mammalian switch/sucrose-non-fermenting (mSWI/SNF) complexes. Clinically, SMARCA4-deficient no…
Human brucellosis, caused by Brucella, is an infectious disease with specific endemic regions, especially in pastoral areas, and may affect multiple organ systems. Neurological involvement, namely neurobrucellosis, occurs in very few of these patients….
Anti-3-hydroxy-3-methylglutaryl-coenzyme A reductase (anti-HMGCR) myopathy is a rare idiopathic inflammatory myopathy characterized by severe muscle damage and minimal extra-muscular involvement. This report presents the first documented case of severe…
IgG4-related disease (IgG4-RD), an immune-mediated fibroinflammatory disorder, has few reports in combination with monoclonal gammopathy of undetermined significance (MGUS). Herein, we present a case of a 69-year-old woman with manifestations of left o…
BackgroundAnti-sulfatide antibodies are autoantibodies that are associated with various neurological disorders. They have been identified in several conditions including Guillain–Barré syndrome, multiple sclerosis, and chronic inflammatory demyelinatin…
Hyper IgM syndrome (HIGM) is a rare immunodeficiency caused by impaired immunoglobulin class switching, leading to recurrent infections. The present report describes the case of an 18-year-old man initially diagnosed with common variable immunodeficien…
There is currently no established standard treatment for patients with metastatic hepatocellular carcinoma after resistance to tyrosine kinase inhibitors. Given that radiotherapy can reprogram the tumor microenvironment and convert “cold” tumors into “…
