Haemophagocytic lymphohistiocytosis (HLH) is a rare condition of uncontrolled immune activation as a result of an inherited genetic defect or in response to malignancy, autoimmune disease, rheumatological disease, AIDS infection or post-transplant immunosuppression. Described here is the case of a 19-year-old Caucasian man who presented with complaints of worsening fever, new-onset jaundice and lethargy after failing treatment for suspected infectious mononucleosis. Physical examination was significant for fever and splenomegaly while laboratory results revealed transaminitis, cytopaenia, indirect hyperbilirubinaemia and elevated ferritin, raising the likelihood of both autoimmune haemolytic anaemia and HLH. He tested positive for Epstein-Barr virus (EBV), and bone marrow biopsy revealed hypercellular marrow with haemophagocytosis and no evidence of malignancy. High dose steroids were initiated with significant improvement in haemoglobin, resulting in a final diagnosis of HLH secondary to acute EBV infection. The patient was discharged on continued high-dose prednisone with planned taper and consideration of outpatient rituximab therapy for 4 weeks. High clinical suspicion and prompt evaluation were critical to early treatment and decreased morbidity.
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http://dx.doi.org/10.1136/bcr-2020-241348 | DOI Listing |
Endocr Metab Immune Disord Drug Targets
December 2024
Institute of Neurobiology, Bulgarian Academy of Sciences, Acad. G. Bonchev St., Block 23, Sofia1113, Bulgaria.
Multiple Sclerosis (MS), a debilitating inflammatory disorder of the central nervous system characterized by demyelination, is significantly influenced by polygenic variations. Although the precise cause of MS remains unclear, it is believed to arise from a complex interplay of genetic and environmental factors. Recent investigations have focused on the polygenic nature of genetic alterations linked to MS risk.
View Article and Find Full Text PDFTurk J Pediatr
November 2024
Division of Pediatric Immunology, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Türkiye.
Background: Griscelli syndrome (GS) is a rare genetic disorder characterized by oculocutaneous albinism and variable immune dysfunction. Among three distinct types of GS, occurring due to different genetic mutations; GS type 1 presents with neurological manifestations, hemophagocytic lymphohistiocytosis (HLH) generally develops in GS type 2, and GS type 3 primarily exhibits oculocutaneous albinism. HLH, a life-threatening condition with excessive immune activation, may occur secondary to various triggers, including infections, and develop in different tissues, as well as in the testis, similar to Erdheim-Chester disease.
View Article and Find Full Text PDFChin Clin Oncol
December 2024
Colorectal Cancer Center, Sichuan University West China Hospital, Chengdu, China; Department of Medical Oncology, Cancer Center, Sichuan University West China Hospital, Chengdu, China.
Background: Epstein-Barr virus-associated gastric cancer (EBVaGC) is characterized by higher lymphocytic infiltration, which predicts sensitivity to immunotherapy. However, there are few studies investigating the mechanisms of acquired resistance to programmed cell death protein 1 (PD-1) blockade and its subsequent treatment strategies for EBVaGC.
Case Description: We describe the case of a patient with EBVaGC who was initially treated with first-line chemotherapy plus Sintilimab, a fully humanized anti-PD-1 monoclonal antibody, resulting in a near-complete response.
Turk Arch Pediatr
January 2025
Division of Allergy and Immunology, Department of Pediatrics, Marmara University Faculty of Medicine, İstanbul, Türkiye.
Objective: Prolidase deficiency is a metabolic and immunological disorder that is inherited in an autosomal recessive manner. In prolidase deficiency, a broad spectrum of differences is observed in patients, ranging from asymptomatic to multisystem involvement. There is scarce information in the literature on the atypical features and immunophenotypes of this disease.
View Article and Find Full Text PDFAm J Surg Pathol
January 2025
Department of Pathology, Health Research Institute-Fundación Jímenez Diaz University Hospital. Universidad Autónoma de Madrid (IIS-FJD, UAM).
Angioimmunoblastic T-cell lymphoma (AITL) is an aggressive malignancy that frequently presents with extranodal involvement. Cutaneous tropism is clinically and histopathologically variable, which may pose a diagnostic challenge. We conducted a retrospective analysis of 40 samples of 20 cases of cutaneous AITL, focusing on the clinicopathologic and molecular correlations between skin and lymph node (LN) samples.
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