Case Report: Primary hemophagocytic lymphohistiocytosis with a homozygous PRF1 variant: a case suggesting early immunoporosis and an expanded phenotypic spectrum

Familial HLH is an autosomal recessive condition characterized by mutations in genes responsible for the secretory lysosome-dependent exocytosis pathway. Its diagnosis is often challenging to complex clinical presentation, and prompt treatment is essen…

Case report: Pediatric vascular Behçet’s disease with prominent arterial involvement: a case series of five patients

BackgroundVascular Behçet’s disease (VBD) rare and severe subtype of Behçet disease characterized by vascular inflammation. Its prevalence in the pediatric population is extremely low. This case series aims to delineate the clinical features and long-t…

Disseminated Mycobacterium kansasii infection with osseous involvement in anti-interferon-γ autoantibody-associated adult-onset immunodeficiency: a case report and literature review

BackgroundAnti–interferon-γ autoantibody-associated adult-onset immunodeficiency is a rare acquired immunodeficiency that predisposes patients to recurrent or disseminated opportunistic infections, particularly nontuberculous mycobacterial (NTM) infect…

FcRn antagonist and C5 complement inhibitor as early rescue strategies in severe Myasthenia Gravis: a two-case report

BackgroundMyasthenia gravis (MG) is an autoimmune neuromuscular disorder in which approximately 10–15% of patients with generalized AChR antibody–positive MG develop refractoriness to standard immunosuppressive therapies. Advanced therapeutic strategie…

Case Report: Safety and efficacy of blinatumomab in combination with donor lymphocyte infusion for the prophylaxis of relapse following allogeneic hematopoietic stem cell transplantation in a pediatric patient with acute lymphoblastic leukemia

BackgroundAcute lymphoblastic leukemia (ALL) is the most common malignant hematological disease in children. Patients with high-risk ALL have a poor prognosis, and allogeneic hematopoietic stem cell transplantation (HSCT) is one of the important treatm…

Conversion-oriented multimodal therapy enabling definitive surgery in a patient with FIGO stage IVA cervical cancer at high risk of fistula formation: a case report

BackgroundFIGO stage IVA cervical cancer is frequently associated with extensive pelvic organ invasion and high treatment complexity. In selected patients with severe hemorrhage, renal dysfunction, or poor baseline condition, delivery of standard thera…

Case report: Recurrence of anti-myeloperoxidase pauci-immune crescentic glomerulonephritis in a kidney transplant recipient; potential association with HLA antigens and seropositivity?

Anti-myeloperoxidase (anti-MPO) antineutrophil cytoplasmic antibodies-associated vasculitis (AAV) manifests histologically as pauci-immune crescentic glomerulonephritis. Recurrent anti-MPO AAV after transplantation is rare and poorly understood. In thi…

Autoimmune GFAP astrocytopathy with eosinophils on cerebrospinal fluid cytology and isolated spinal cord lesions on MRI: a case report

BackgroundAutoimmune glial fibrillary acidic protein (GFAP) astrocytopathy is an autoimmune inflammatory disorder of the central nervous system associated with GFAP-IgG. It most commonly presents as meningoencephalitis, myelitis, or meningoencephalomye…

Case Report: Integrated genomic and immunological assays identify non-coding CFB variants in pneumococcal meningoencephalitis

Inborn defects of the alternative pathway (AP) of the complement system have revealed its essential role in host defense against invasive infections caused by encapsulated bacteria. Biallelic pathogenic variants in the CFB gene cause complement factor …

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