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Mutations disrupting the kinase domain of IKKα lead to immunodeficiency and immune dysregulation in humans.
J Exp Med
February 2025
Laboratory of Immunogenetics of Pediatric Autoimmune Diseases, INSERM UMR 1163, Imagine Institute, University Paris Cité, Paris, France.
IKKα, encoded by CHUK, is crucial in the non-canonical NF-κB pathway and part of the IKK complex activating the canonical pathway alongside IKKβ. The absence of IKKα causes fetal encasement syndrome in humans, fatal in utero, while an impaired IKKα-NIK interaction was reported in a single patient and causes combined immunodeficiency. Here, we describe compound heterozygous variants in the kinase domain of IKKα in a female patient with hypogammaglobulinemia, recurrent lung infections, and Hay-Wells syndrome-like features.
View Article and Find Full Text PDFRibosome profiling shows variable sensitivity to detect open reading frames for conventional and different types of cryptic T cell antigens.
Mol Ther Methods Clin Dev
March 2025
Department of Hematology, Leiden University Medical Center, Leiden, the Netherlands.
T cell-based immunotherapies targeting antigens on tumor cells have shown efficacy as anti-cancer treatments. While neoantigens are created by somatic mutations acquired during tumorigenesis, allogeneic stem cell transplantation as treatment for hematological malignancies exploits minor histocompatibility antigens encoded by genetic differences between patients and donors. Screening methods to predict neoantigens and minor histocompatibility antigens typically consider only conventional antigens created by nonsynonymous mutations or polymorphisms coding for amino acid changes in canonical open reading frames (ORFs).
View Article and Find Full Text PDFReal-World Outcomes in Patients with Advanced Penile Squamous Cell Carcinoma Receiving Immune Checkpoint Inhibitors: A Single Institution Experience.
J Immunother Precis Oncol
February 2025
Department of Hematology and Medical Oncology, Emory University School of Medicine, Atlanta, GA, USA.
Introduction: Advanced penile squamous cell carcinoma (pSCC) is a rare and aggressive malignancy with a poor prognosis and an unmet need for biomarkers. We performed a retrospective evaluation of real-world efficacy, safety outcomes, and baseline inflammatory biomarkers in patients with advanced pSCC treated with immune checkpoint inhibitors (ICIs).
Methods: We performed a retrospective review of patients with advanced pSCC who received ICIs from 2012 to 2023 at the Winship Cancer Institute of Emory University in Atlanta, GA.
Targeting menin for precision therapy in high-risk acute myeloid leukemia.
Leuk Res Rep
December 2024
University of Rochester, Department of Hematology/Oncology, Rochester, NY, USA.
Objective: This mini-review provides an overview of the current evidence for Revumenib, a first-in-class menin inhibitor, in treating AML with KMT2A rearrangements or NPM1 mutations. This therapy represents a promising advancement by selectively disrupting leukemogenic pathways.
Summary: The clinical promise of Revumenib in genetically defined AML highlights its potential role in shaping the future treatment landscape.
Exploring the functional and immune landscape of E-β thalassemia patients through RNA sequencing of peripheral blood mononuclear cells.
Heliyon
January 2025
Department of Zoology, The University of Burdwan, West Bengal, India.
Thalassemia is a hematological disorder caused by mutations in the hemoglobin gene, often necessitating regular blood transfusions. These frequent transfusions exert continuous pressure on patients' immune systems. Despite extensive research on the hematological aspects of thalassemia, few studies have explored the immune status of these patients.
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