نتایج جستجو برای: perforin gene

تعداد نتایج: 1142550  

Ali Naderi Behnaz Andashti Ebrahim Mohammadi, Hamid Galehdari Mohammad Ali Molavi

Perforin gene (PRF1) mutations have been reported in 20-30% of patients with familial hemophagocytic lymphohistiocytosis (FHL), an immune disorder of infancy and early childhood. Cytotoxic T and natural killer (NK) cell activities are remarkably reduced or ab-sent in FHL patients. We report the first cases of familial hemophagocytic lymphohistiocy-tosis in an Iranian family with two siblings. E...

Journal: :iranian journal of immunology 0
hamid galehdari department of genetics, school of science, shahid chamran university of ahwaz, iran ebrahim mohammadi department of pharmacology and toxicology, school of pharmacy, ahwaz jondishapour university of medical sciences, iran behnaz andashti department of genetics, school of science, shahid chamran university of ahwaz, iran ali naderi research center for thalassemia and hemoglobinopathy of ahwaz mohammad ali molavi research center for thalassemia and hemoglobinopathy of ahwaz

perforin gene (prf1) mutations have been reported in 20-30% of patients with familial hemophagocytic lymphohistiocytosis (fhl), an immune disorder of infancy and early childhood. cytotoxic t and natural killer (nk) cell activities are remarkably reduced or ab-sent in fhl patients. we report the first cases of familial hemophagocytic lymphohistiocy-tosis in an iranian family with two siblings. e...

Objective(s): Human T cell leukaemia virus type 1 (HTLV-1) is associated with adult T cell leukaemia (ATL), a malignant lymphoproliferative disease that infects CD4 T cells. It is not clear why the majority of HTLV-1-infected individuals remain asymptomatic carries (ACs) and a minority develop ATL. Cellular immune response has a critical role in ATL and destroys malign...

Journal: :Scandinavian Journal of Immunology 2021

Abstract Perforin, a pore‐forming glycoprotein, has been demonstrated to play key roles in clearing virus‐infected cells and tumour due its ability of forming ‘pores’ on the cell membranes. Additionally, perforin is also found be associated with human diseases such as tumours, virus infections, immune rejection some autoimmune diseases. Until now, plenty genes have identified vertebrates, espec...

Journal: :Blood 2005
Rita Clementi Franco Locatelli Loïc Dupré Alberto Garaventa Lorenzo Emmi Marco Bregni Graziella Cefalo Antonia Moretta Cesare Danesino Margherita Comis Andrea Pession Ugo Ramenghi Rita Maccario Maurizio Aricò Maria Grazia Roncarolo

Perforin mutations have been demonstrated in a proportion of patients diagnosed with the familial form of hemophagocytic lymphohistiocytosis (HLH). In the present study, we evaluated whether some patients with lymphoma sharing clinical characteristics with HLH might harbor mutations of the perforin gene. We analyzed 29 patients and found that 4 patients, who developed either Hodgkin or non-Hodg...

Journal: :Journal of immunology 1999
C R Yu J R Ortaldo R E Curiel H A Young S K Anderson P Gosselin

The pore-forming protein perforin is preferentially expressed in NK and cytotoxic T cells. To investigate the molecular regulation of human perforin gene transcription, the activity of the human perforin promoter was analyzed in human NK and T cell lines using various promoter fragments linked to a luciferase reporter gene. A core promoter was identified within 55 bp upstream of the transcripti...

Journal: :Infection and immunity 2016
Ryan McCormack Wael Bahnan Niraj Shrestha Justin Boucher Marcella Barreto Carlos M Barrera Edward A Dauer Nancy E Freitag Wasif N Khan Eckhard R Podack Kurt Schesser

The host-encoded Perforin-2 (encoded by the macrophage-expressed gene 1, Mpeg1), which possesses a pore-forming MACPF domain, reduces the viability of bacterial pathogens that reside within membrane-bound compartments. Here, it is shown that Perforin-2 also restricts the proliferation of the intracytosolic pathogen Listeria monocytogenes Within a few hours of systemic infection, the massive pro...

Journal: :Journal of immunology 2004
Mariana J Kaplan Qianjin Lu Ailing Wu John Attwood Bruce Richardson

Inhibiting DNA methylation in CD4+ T cells causes aberrant gene expression and autoreactive monocyte/macrophage killing in vitro, and the hypomethylated cells cause a lupus-like disease in animal models. Similar decreases in T cell DNA methylation occur in idiopathic lupus, potentially contributing to disease pathogenesis. The genes affected by DNA hypomethylation are largely unknown. Using DNA...

Journal: :Blood 2002
Kazuhiro Kogawa Susan M Lee Joyce Villanueva Daniel Marmer Janos Sumegi Alexandra H Filipovich

Mutations in the perforin gene have been described in some patients with hemophagocytic lymphohistiocytosis (HLH), but the role of perforin defects in the pathogenesis of HLH remains unclear. Four-color flow cytometric analysis was used to establish normal patterns of perforin expression for control subjects of all ages, and patterns of perforin staining in cytotoxic lymphocytes (natural killer...

2015
Marlene Carmo Kimberly A Risma Paritha Arumugam Swati Tiwari Adrianne E Hontz Claudia A Montiel-Equihua Maria E Alonso-Ferrero Michael P Blundell Axel Schambach Christopher Baum Punam Malik Adrian J Thrasher Michael B Jordan H Bobby Gaspar

Defects in perforin lead to the failure of T and NK cell cytotoxicity, hypercytokinemia, and the immune dysregulatory condition known as familial hemophagocytic lymphohistiocytosis (FHL). The only curative treatment is allogeneic hematopoietic stem cell transplantation which carries substantial risks. We used lentiviral vectors (LV) expressing the human perforin gene, under the transcriptional ...

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