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Pediatric CNS-isolated hemophagocytic lymphohistiocytosis with brain hemorrhages: a case report.
BMC Neurol
October 2024
Division of Pediatric Hematology, Oncology, and Cellular Therapy, Nemours Children's Hospital, Wilmington, Delaware, USA.
Article Synopsis
- Hemophagocytic lymphohistiocytosis (HLH) is a rare immune disorder, and this case presents a unique instance of it affecting the central nervous system (CNS) in a pediatric patient.
- A 15-year-old boy exhibited symptoms like ataxia and MRI findings of multiple brain hemorrhages, which led to a confirmed diagnosis of familial CNS-HLH through genetic testing.
- After failing initial treatments, he underwent stem cell transplantation and showed significant improvement, underlining the importance of considering CNS-HLH in similar cases to avoid delays in diagnosis and treatment.
Role of DOCK8 in cytokine storm syndromes.
J Allergy Clin Immunol
October 2024
University of Alabama at Birmingham, Birmingham, Ala. Electronic address:
Background: Cytokine storm syndromes (CSSs), including hemophagocytic lymphohistiocytosis (HLH), are increasingly recognized as hyperinflammatory states leading to multiorgan failure and death. Familial HLH in infancy results from homozygous genetic defects in perforin-mediated cytolysis by CD8 T lymphocytes and natural killer (NK) cells. Later-onset CSSs are often associated with heterozygous defects in familial HLH genes, but genetic etiologies for most are unknown.
View Article and Find Full Text PDFThe Potential Role of Cell-Death Mechanisms in the Pathogenesis of Familial Mediterranean Fever Attacks: Granzyme A and Beyond.
Diagnostics (Basel)
September 2024
Department of Pediatric Rheumatology, Hacettepe University, 06230 Ankara, Turkey.
Article Synopsis
- - The study focuses on Familial Mediterranean Fever (FMF), an autoinflammatory disease characterized by the activation of the pyrin inflammasome, potentially leading to a specific type of cell death called pyroptosis.
- - Researchers analyzed plasma samples from 25 FMF patients, alongside 10 patients with PFAPA and 10 healthy controls, to investigate the cell-death mechanisms during FMF attacks and the attack-free period.
- - Findings revealed that levels of specific proteins (sFasL and granzyme A) were significantly elevated during FMF attacks but returned to normal when the patient was attack-free, indicating a distinct inflammatory response not seen in the PFAPA group.
Murine Models of Familial Cytokine Storm Syndromes.
Adv Exp Med Biol
August 2024
Division of Immunology, University Children's Hospital Zurich, Zurich, Switzerland.
Hemophagocytic lymphohistiocytosis (HLH) is a hyperinflammatory disease caused by mutations in effectors and regulators of cytotoxicity in cytotoxic T cells (CTL) and natural killer (NK) cells. The complexity of the immune system means that in vivo models are needed to efficiently study diseases like HLH. Mice with defects in the genes known to cause primary HLH (pHLH) are available.
View Article and Find Full Text PDFCD8 T Cell Biology in Cytokine Storm Syndromes.
Adv Exp Med Biol
August 2024
Center for Hematology and Regenerative Medicine, Department of Medicine, Karolinska Institutet, Stockholm, Sweden.
Familial forms of hemophagocytic lymphohistiocytosis (HLH) are caused by loss-of-function mutations in genes encoding perforin as well as those required for release of perforin-containing cytotoxic granule constituent. Perforin is expressed by subsets of CD8 T cells and NK cells, representing lymphocytes that share mechanism of target cell killing yet display distinct modes of target cell recognition. Here, we highlight recent findings concerning the genetics of familial HLH that implicate CD8 T cells in the pathogenesis of HLH and discuss mechanistic insights from animal models as well as patients that reveal how CD8 T cells may contribute to or drive disease, at least in part through release of IFN-γ.
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