Perforin deficiency characterized by markedly reduced cytotoxic T and natural killer cell activities is one type of familial hemophagocytic lymphohistiocytosis (FHL). FHL is a fatal inherited disease, and treatment with stem cell transplantation has resulted in a normal activity of killer cells. We herein report a case of FHL with perforin deficiency that was primarily treated by the administration of liposteroid to reduce hypercytokinemia. Thereafter, allogenic bone marrow transplantation with nonmyeloablative conditioning was successfully performed without any adverse effects on the patient's physical or developmental status. These observations suggest that this treatment strategy might thus be recommended in infants with FHL to reduce treatment-related complications, especially in patients with relatively mild clinical courses.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1097/MPH.0b013e3180335030 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Deficiencies of Inducible Costimulator (ICOS) During Chronic Infection with Upregulate the CD28-Dependent Cytotoxicity of CD8 T Cells and Their Effector Function Against Tissue Cysts of the Parasite.
Cells
December 2024
Department of Microbiology, Immunology and Molecular Genetics, University of Kentucky, Lexington, KY 40536, USA.
We recently identified that the cerebral mRNA expression of inducible costimulator (ICOS) and its ligand, ICOSL, both significantly increase during the elimination of cysts from the brains of infected mice by the perforin-mediated cytotoxic activity of CD8 T cells. In the present study, we examined the role of ICOS in activating the effector activity of CD8 T cells in response to the presence of cysts in infected mice. Following the adoptive transfer of splenic CD8 T cells from chronically infected ICOS-deficient (ICOS) and wild-type (WT) mice to infected SCID mice, fewer CD8 T cells were detected in the brains of the recipients of ICOS CD8 T cells than the recipients of WT CD8 T cells.
View Article and Find Full Text PDFThe Absence of CXCL10 Activity Does Not Affect the Capability of CD8 T Cells to Migrate and Eliminate the Tissue Cysts of from the Brains of Chronically Infected Mice.
Microorganisms
October 2024
Department of Microbiology, Immunology and Molecular Genetics, University of Kentucky College of Medicine, Lexington, KY 40536, USA.
forms tissue cysts in neurons and astrocytes in the brain to establish chronic infection, and astrocytes express the CXCL10 chemokine in chronically infected mice. Since chemokines mediate the migration of T cells to attack their targets, and since CXCL10 plays key roles in T cell-mediated control of the proliferation of tachyzoites (the acute stage form) of during the acute stage of infection, we examined whether CXCL10 is involved in recruiting anti-cyst CD8 cytotoxic T cells to eliminate the cysts in their brains. We employed adoptive transfer of CD8 immune T cells to infected, T cell-deficient SCID and RAG1 mice in combination with blocking CXCL10 activity by neutralizing antibody or a deletion of this chemokine gene.
View Article and Find Full Text PDFImmunological biomarkers and predictive model for recurrence of esophageal squamous cell carcinoma after combined immunotherapy and neoadjuvant chemotherapy.
Am J Cancer Res
October 2024
Oncology Department, Zhengzhou Universiy People's Hospital (Henan Provincial People's Hospital) Zhengzhou 450003, Henan, China.
Article Synopsis
- - The study aimed to explore how certain immune system markers before surgery relate to the chances of esophageal squamous cell carcinoma (ESCC) returning within three years after patients undergo immunotherapy and chemotherapy.
- - Researchers analyzed 348 ESCC patients, comparing those who experienced recurrence to those who did not, looking at various immunological factors and lifestyle choices that could impact recurrence risk.
- - Key findings indicated that higher levels of CD8+ and Perforin+ cells were linked to a lower recurrence risk, while certain proteins (like EGFR and PD-L1) correlated with a higher risk; a predictive model showed high accuracy for assessing recurrence based on these markers.
The Microbiome Modifies Manifestations of Hemophagocytic Lymphohistiocytosis in Perforin-Deficient Mice.
Eur J Immunol
January 2025
Institute for Immunodeficiency, Center for Chronic Immunodeficiency (CCI), Medical Center- University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
Primary hemophagocytic lymphohistiocytosis (HLH) is a life-threatening hyperinflammatory syndrome caused by inborn errors of cytotoxicity. Patients with biallelic PRF1 null mutations (encoding perforin) usually develop excessive immune cell activation, hypercytokinemia, and life-threatening immunopathology in the first 6 months of life, often without an apparent infectious trigger. In contrast, perforin-deficient (PKO) mice only develop HLH after systemic infection with lymphocytic choriomeningitis virus (LCMV).
View Article and Find Full Text PDFImpact of psychological stressors on natural killer cell function: A comprehensive analysis based on stressor type, duration, intensity, and species.
Physiol Behav
January 2025
Department of Allergy and Immunology, Ochsner Health System, New Orleans, LA 70121, USA.
Article Synopsis
- * Prolonged stress leads to decreased NK cell numbers and functions across various species, with particular age and stress exposure impacting effectiveness; rehabilitation strategies have shown limited success.
- * Differences in stress response are noted between genders, with females showing greater NK cell suppression, and research indicates mice are not ideal models for studying stress effects on NK cells, pointing to the need for further investigation into the mechanisms behind NK cell dysfunction.
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!