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Novel Missense DNA Variants in the IL2RG Gene Identified in Slovak X-linked Severe Combined Immunodeficiency Disease Patients: A Case Report.
Cureus
December 2024
Laboratory of Genomic Medicine, GHC GENETICS SK, Comenius University Science Park, Bratislava, SVK.
X-linked severe combined immunodeficiency disease (X-SCID) is a form of inborn errors of immunity (IEI) associated with causal DNA variants of the gene. Patients with X-SCID are characterized by a combination of cellular and humoral immunodeficiencies associated with increased susceptibility to infections. The presented cases constituted two unrelated male patients from the Slovak population.
View Article and Find Full Text PDFCurrent developments in T-cell receptor therapy for Acute Myeloid Leukaemia.
Blood Adv
January 2025
The University of Sydney, Sydney, Australia.
T-cell receptor (TCR) therapies are a promising modality for the treatment of cancers, with significant efforts being directed towards acute myeloid leukaemia (AML), a particularly challenging disease. Chimeric antigen receptor (CAR) T-cells targeting single surface antigens have shown remarkable efficacy for B-cell lymphoblastic leukaemia, lymphomas and multiple myeloma. However, AML presents formidable obstacles to the effectiveness of CAR T-cells due to the widespread expression of heterogenous leukaemia immunophenotypes and surface antigen targets additionally present on normal myeloid cells.
View Article and Find Full Text PDFHypomorphic RAG2 Deficiency Promotes Selection of Self-Reactive B Cells.
J Clin Immunol
January 2025
Center for Immunity and Immunotherapies, Seattle Children's Research Institute, Seattle, WA, USA.
Reduced function or hypomorphic variants in recombination-activating genes (RAG) 1 or 2 result in a broad clinical phenotype including common variable immunodeficiency (CVID) and even adult-onset disease. Milder RAG variants are less characterized. Here we describe the longitudinal course of a milder combined RAG deficiency in 3 of 7 siblings sharing the same RAG2 mutations over a 50-year study.
View Article and Find Full Text PDFTargeted dual biologic therapy for erythroderma of unknown etiology guided by high-parameter peripheral blood immunophenotyping.
Sci Rep
January 2025
Department of Dermatology, University of Maryland School of Medicine, 419 West Redwood Street, Suite 235, Baltimore, MD, 21201, USA.
Erythroderma is a severe and heterogeneous inflammatory skin condition with little guidance on the approach to management in cases of unknown etiology. To guide therapeutic selection, we sought to create an immunophenotyping platform able to identify aberrant cell populations and cytokines in subtypes of erythroderma. We performed high-parameter flow cytometry on peripheral blood mononuclear cells (PBMCs) and whole blood of a patient with refractory idiopathic erythroderma, erythrodermic patients with Sézary syndrome and pityriasis rubra pilaris, and healthy controls.
View Article and Find Full Text PDFComparison of laboratory characteristics and clinical prognosis of APL with negative and positive PML-RARα gene.
Medicine (Baltimore)
November 2024
Clinical laboratory, The First Affiliated Hospital of Hebei North University, Zhangjiakou, China.
This study analyzes the laboratory characteristics and prognosis of patients between PML-RARα negative APL and PML-RARα positive APL and compares the differences in order to improve the understanding of this rare APL and guide clinical diagnosis and treatment. A total of 81 patients with newly diagnosed APL based on bone marrow cell morphology were included, with 14 in the PML-RARα gene negative group and 67 in the PML-RARα gene positive group. The sex, age, peripheral blood routine test, coagulation related indicators, bone marrow cell morphology, flow cytometric immunophenotype, abnormal chromosome expression and prognosis of the 2 groups were analyzed and compared.
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