Life-threatening multiorgan immune-related toxicities complicated by sepsis after anti-PD-1 therapy with complete tumor regression: a case report and literature review

BackgroundImmune checkpoint inhibitors (ICIs) enhance antitumor immunity but can disrupt immune tolerance, leading to immune-related adverse events (irAEs) affecting multiple organs. Simultaneous life-threatening multiorgan irAEs remain rare and poorly…

Management of persistent soft tissue residuals exhibiting an imaging paradox (^123I-MIBG-negative/^68Ga-DOTA-NOC-positive) in high-risk neuroblastoma following immunotherapy: a case report

Managing persistent soft tissue residual disease in high-risk neuroblastoma (HR-NB) remains a clinical challenge, particularly when conventional response assessments suggest remission but residual lesions persist. Determining whether such lesions repre…

Pagetoid reticulosis (Woringer–Kolopp disease) mimicking eczema: a case report with immunophenotypic analysis and literature review

Pagetoid reticulosis (PR), also known as Woringer–Kolopp disease (WKD), is a rare subtype of cutaneous T-cell lymphoma. Due to its low incidence and non-specific clinical presentation, it is frequently prone to misdiagnosis. We report the case of a 53-…

Case Report: Epidermodysplasia verruciformis misdiagnosed as pityriasis alba in a child: a diagnostic pitfall in facial hypopigmented lesions

ObjectiveEpidermodysplasia verruciformis (EV) is a rare genodermatosis with susceptibility to specific HPVs and risk of malignant transformation. Atypical EV presenting as isolated facial hypopigmented macules closely mimicking pityriasis alba can lead…

Case Report: Functional characterization of lymphocyte populations in a pediatric patient with WHIM syndrome

WHIM syndrome is a rare primary immunodeficiency disorder caused by gain-of-function mutations of the chemokine receptor CXCR4, leading to abnormal and exacerbated leukocyte trafficking. It is associated with severe neutropenia and lymphopenia, and rec…

Anti-IgLON5 disease presenting with myokymia and favourable response to FcRN-antagonist combined with oral glucocorticoids: case report

Anti-IgLON5 disease is a rare autoimmune neurological disorder characterized by anti- neuronal surface autoantibodies targeting the Immunoglobulin-Like Cell Adhesion Molecule 5 (IgLON5) protein. We report a 53-year-old male patient diagnosed with anti-…

Refractory mastoiditis as the initial manifestation of granulomatosis with polyangiitis:a case report and literature review

BackgroundGranulomatosis with Polyangiitis (GPA) is an antineutrophil cytoplasmic antibody (ANCA)-associated vasculitis that predominantly affects the upper or lower respiratory tracts and the kidney. While otologic involvement is relatively common in …

Case Report: A novel homozygous splice-site variant in the C3 gene causing complete complement C3 deficiency in two unrelated Moroccan patients

Complement component 3 (C3) plays a central role in innate immunity as a convergence point of the classical, alternative, and lectin pathways. Complete C3 deficiency is an extremely rare inborn error of immunity, typically associated with recurrent sev…

Systemic lupus erythematosus associated with paroxysmal nocturnal hemoglobinuria: a case report and literature review highlighting the clinical significance of small PNH clones

Systemic lupus erythematosus (SLE) and paroxysmal nocturnal hemoglobinuria (PNH) represent distinct disorders linked by complement pathway dysregulation, yet their co-occurrence remains poorly characterized. We present a 42-year-old woman with newly di…

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