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The Prevalence of Peripheral Erythrophagocytosis in Pediatric Immune-Mediated Hemolytic Anemia.
Hematol Rep
January 2025
Children's Haematology and Cancer Centre, Mount Elizabeth Hospital, Singapore 228510, Singapore.
Background: Peripheral erythrophagocytosis appears to be a unique sign of acquired immune-mediated hemolytic anemia. It is said to be rare but its prevalence among patients with autoimmune hemolytic anemia has not been studied.
Methods: In this retrospective study from July 2014 to June 2024, the clinical and laboratory features, treatment and outcomes of children diagnosed with autoimmune hemolytic anemia were described.
A compound heterozygous mutation causes congenital thrombotic thrombocytopenic purpura: a case report.
Front Med (Lausanne)
January 2025
Department of Hematology, The Second Affiliated Hospital of Nanchang University, Nanchang, China.
Congenital thrombotic thrombocytopenic purpura (cTTP) is a thrombotic microangiopathy (TMA) characterized by severe hereditary ADAMTS13 (a disintegrin and metalloproteinase with thrombospondin type 1 motifs 13) deficiency caused by mutations. This rare autosomal recessive genetic disorder is often misdiagnosed as immune thrombocytopenia (ITP) or hemolytic uremic syndrome (HUS). Here, we report a 21-year-old male cTTP patient with a compound heterozygous mutation.
View Article and Find Full Text PDFVitamin D-VDR and vitamin A-RAR affect IL-13 and IFNγ secretion from human CD4 T cells directly and indirectly via competition for their shared co-receptor RXR.
Scand J Immunol
January 2025
LEO Foundation Skin Immunology Research Center, Department of Immunology and Microbiology, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.
The effects of vitamin D and vitamin A in immune cells are mediated through the vitamin D receptor (VDR) and retinoic acid receptor (RAR), respectively. These receptors share the retinoid X receptor (RXR) co-factor for transcriptional regulation. We investigated the effects of active vitamin D (1,25(OH)D) and 9-cis retinoic acid (9cRA) on T helper (T)1 and T2 cytokines and transcription factors in primary human blood-derived CD4 T cells.
View Article and Find Full Text PDFMolecular Basis of Breast Tumor Heterogeneity.
Adv Exp Med Biol
January 2025
Department of Pathology and Laboratory Medicine, Memorial Sloan Kettering Cancer Center, New York, NY, USA.
Breast cancer (BC) is a profoundly heterogenous disease, with diverse molecular, histological, and clinical variations. The intricate molecular landscape of BC is evident even at early stages, illustrated by the complexity of the evolution from precursor lesions to invasive carcinoma. The key for therapeutic decision-making is the dynamic assessment of BC receptor status and clinical subtyping.
View Article and Find Full Text PDFUnraveling calcium dysregulation and autoimmunity in immune mediated rippling muscle disease.
Acta Neuropathol Commun
January 2025
Department of Neurology, Mayo Clinic, Rochester, MN, 55905, USA.
Rippling Muscle Disease (RMD) is a rare skeletal myopathy characterized by abnormal muscular excitability manifesting with wave-like muscle contractions and percussion-induced muscle mounding. Hereditary RMD is associated with caveolin-3 or cavin-1 mutations. Recently, we identified cavin 4 autoantibodies as a biomarker of immune-mediated RMD (iRMD), though the underlying disease-mechanisms remain poorly understood.
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