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Multiomics dissection of human RAG deficiency reveals distinctive patterns of immune dysregulation but a common inflammatory signature.
Sci Immunol
January 2025
Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA.
Human recombination-activating gene (RAG) deficiency can manifest with distinct clinical and immunological phenotypes. By applying a multiomics approach to a large group of -mutated patients, we aimed at characterizing the immunopathology associated with each phenotype. Although defective T and B cell development is common to all phenotypes, patients with hypomorphic variants can generate T and B cells with signatures of immune dysregulation and produce autoantibodies to a broad range of self-antigens, including type I interferons.
View Article and Find Full Text PDFPeripheral Single-Cell Immune Characteristics Contribute to the Diagnosis of Alzheimer's Disease and Dementia With Lewy Bodies.
CNS Neurosci Ther
January 2025
Department of Psychiatry, The First Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, China.
Objective: Alzheimer's disease (AD) and dementia with Lewy bodies (DLB) are common neurodegenerative diseases with distinct but overlapping pathogenic mechanisms. The clinical similarities between these diseases often result in high misdiagnosis rates, leading to serious consequences. Peripheral blood mononuclear cells (PBMCs) are easy to collect and can accurately reflect the immune characteristics of both DLB and AD.
View Article and Find Full Text PDFCutaneous T-Cell Lymphoma Masquerading as Leishmaniasis Via 18F-FDG PET/CT.
Clin Nucl Med
December 2024
From the Department of Nuclear Medicine, King George Medical University, Lucknow.
Cutaneous T-cell lymphomas (CTCLs) characterized by infiltration of the skin of T-cell lymphocytes represent an uncommon and rare subset of extranodal non-Hodgkin lymphomas. Primary CTCL, not otherwise specified, is among the most important subtypes of CTCLs characterized by rapid cutaneous dissemination and systemic involvement. Herein, we present a case of primary CTCL, not otherwise specified, diagnosed via 18F-FDG PET/CT after initial misdiagnosis of cutaneous leishmaniasis.
View Article and Find Full Text PDFClinical and Paraclinical Characterizations, Management, and Prognosis in DPPX Antibody-Associated Encephalitis: A Systematic Review.
Neurol Neuroimmunol Neuroinflamm
March 2025
Department of Neurology, Second Affiliated Hospital, School of Medicine, Zhejiang University; and.
In dipeptidyl-peptidase-like protein 6 (DPPX) antibody-associated encephalitis, DPPX antibodies from serum and CSF target the extracellular subunit of the voltage-gated potassium channel 4.2. This targeting leads to a characteristic clinical triad comprising gastrointestinal symptoms (predominantly diarrhea), cognitive-psychiatric dysfunction, and manifestations of CNS hyperexcitability, with hyperekplexia being a more specific feature.
View Article and Find Full Text PDFPurpose: Wiskott-Aldrich syndrome (WAS) is an X-linked genetic disorder characterized by distinctive features including microthrombocytopenia, eczema and recurrent infections. In the present study we report clinical, immunological and molecular spectrum of 41 WAS patients diagnosed over last five years.
Methods: Clinical and family history was collected from case records.
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