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Hypomorphic 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 PDFBackground: Acute myeloid leukemia (AML) is a hematologic malignancy. It is the most common form of acute leukemia among adults. Recent treatment advances have drastically improved outcomes for these diseases, but the overall survival (OS) is still exceptionally low due to the infiltration of leukemic cells in the central nervous system (CNS).
View Article and Find Full Text PDFDiagnostic challenge presented by extranodal NK/T cell lymphoma expressing CD20, CD30 and CD15: A case report.
Oncol Lett
March 2025
Gansu Province Key Laboratory of Environmental Oncology, Lanzhou University Second Hospital, Lanzhou, Gansu 730000, P.R. China.
The atypical expression of immune phenotypes in lymphoma is often associated with a poor prognosis and presents diagnostic challenges. The present study reports on a rare extranodal NK/T cell lymphoma. In addition to typical morphology and immunohistochemical characteristics, these tumors strongly express CD20 and CD30 and partially express CD15, which is associated with aggressive clinical behavior.
View Article and Find Full Text PDFGenetic insight into dissecting the immunophenotypes and inflammatory profiles in the pathogenesis of Sjogren syndrome.
J Transl Med
January 2025
Department of Rheumatology and Immunology, Peking University Third Hospital, No. 49, North Garden Road, Beijing, 100191, China.
Background: Sjogren syndrome (SS) is a chronic systemic autoimmune disease and its pathogenesis often involves the participation of numerous immune cells and inflammatory factors. Despite increased researches and studies recently focusing on this area, it remains to be fully elucidated. We decide to incorporate genetic insight into investigation of the causal link between various immune cells, inflammatory factors and pathogenesis of Sjogren syndrome (SS).
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