Experience in hematopoietic stem cell transplant (HSCT) as a long-term curative treatment for sickle-cell anemia (SCA) has been gathered over the last 30 years. Sustained engraftment to restore normal erythropoiesis remains the primary aim of HSCT in t…
Recessive dystrophic epidermolysis bullosa (RDEB) results from biallelic COL7A1 variants and causes trauma-induced blistering, scarring, and progressive extracutaneous complications. Severe pruritus may intensify skin injury through an itch-scratch cyc…
Current systemic treatments for advanced hepatocellular carcinoma (HCC) such as antiangiogenic targeted therapies, immune checkpoint inhibitors (ICIs), and their combinations have shown benefit, but widespread drug resistance severely limits patient ou…
SLE may occur simultaneously with or subsequently to other autoimmune diseases; such cases are called overlap syndromes. Cases of SLE overlapping with three or more autoimmune diseases are extremely rare, and there is no unified standard or consensus f…
IntroductionPrimary aldosteronism (PA) and autoimmune polyglandular syndrome type 2 (APS-2) represent opposing ends of adrenal pathology—hyperfunction versus hypofunction. Their coexistence is exceptionally rare and diagnostically challenging.Case pres…
Neuromyelitis optica spectrum disorder (NMOSD) predominantly affects women and has a median age at onset of 40 years, meaning that many patients are of childbearing age. However, management of pregnant women with NMOSD remains extremely challenging. We…
BackgroundHemophagocytic lymphohistiocytosis (HLH) is a life-threatening hyperinflammatory disorder often driven by primary immunodeficiencies like X-linked lymphoproliferative syndrome (XLP) in infants.Case descriptionWe report a 2-month-old male with…
IntroductionSplit liver transplantation (SLT) and controlled donation after circulatory death (cDCD) are two strategies used to expand the liver graft pool, but cDCD livers have traditionally been considered unsuitable for splitting because of warm isc…
Bullous pemphigoid (BP) is a common autoimmune subepidermal blistering disorder that mainly affects elderly individuals aged ≥70 years. Systemic glucocorticoids serve as first-line treatment, and immunosuppressants or biological agents such as dupiluma…
BackgroundTumor mutational burden (TMB) is widely utilized as a predictive biomarker for response to immune checkpoint inhibitors (ICIs). However, a subset of hypermutated tumors exhibits primary resistance to immunotherapy, indicating that additional …
