BackgroundBullous Pemphigoid (BP) is caused by a predominantly Th2-mediated attack on the basement membrane by the production of anti-BP180 and anti-BP230 antibodies. Malignant tumors can exacerbate immune disorders through a variety of potential pathw…
WHIM syndrome is typically caused by C-terminal gain-of-function variants in CXCR4, yet clinical heterogeneity suggests additional genetic modifiers. We investigated a family in which the 22-year-old proband harbored two heterozygous variants: a novel …
Systemic lupus erythematosus (SLE) is a multisystem autoimmune disease that can affect the ocular system, with retinal vasculitis and optic neuritis being rare but serious manifestations. We present a case of a 26-year-old female with newly diagnosed S…
Gastrointestinal defects and immunodeficiency syndrome (GIDID) is a rare and complex disorder characterized by concurrent dysfunction of the digestive and immune systems. Typically manifesting in infancy or early childhood, GIDID carries a severe progn…
BackgroundAntineutrophil cytoplasmic antibody (ANCA)-associated vasculitis (AAV) is a systemic autoimmune disease characterized by necrotizing small-vessel inflammation, frequently complicated by severe anemia and progressive renal injury. Anemia, affe…
X-linked agammaglobulinemia (XLA) is a rare primary immunodeficiency disorder caused by mutations in the Bruton tyrosine kinase (BTK) gene. This article presents a fatal case of a 20-year-old male with XLA complicated by septic shock due to Pseudomonas…
BackgroundNK-large granular lymphocytic leukemia (NK-LGLL) is a rare clonal lymphoproliferative disease of natural killer (NK) cells. In refractory cases, traditional chemotherapy regimens and immunosuppressive drugs often prove ineffective. Hematopoie…
BackgroundIntrahepatic cholangiocarcinoma (ICC) typically exhibits poor responsiveness to immune checkpoint inhibitors (ICIs) due to its microsatellite-stable (MSS) status and low tumor mutational burden (TMB). Conventional biomarkers like PD-L1 expres…
IntroductionWith the increasing challenge of antibiotic resistance, polymyxin E is considered a last-line treatment option for infections caused by highly resistant bacteria. However, its use may lead to various adverse reactions, such as nephrotoxicit…
Autoimmune encephalitis (AE) is a heterogeneous disorder mediated by autoantibodies targeting neuronal or glial antigens, with anti-NMDAR encephalitis being the most common subtype, while cases with dual antibody positivity remain exceedingly rare. Sta…
