A 44-year-old man known to have human immunodeficiency virus (HIV) infection presented to our clinic with erythroderma, generalized lymphadenopathy, and cutaneous nodules and tumors. After a series of investigations, we confirmed that he had Sézary syndrome. In this paper we describe the immune alterations that occur in both Sézary Syndrome and HIV infection and how these changes together resulted in rapid and overwhelming immune dysregulation in our patient.
Download full-text PDF |
Source |
---|
iScience
January 2025
Department of Regenerative Medicine and Cell Biology, Medical University of South Carolina, Charleston, SC 29425, USA.
Mutations in the human genes encoding the endothelin ligand-receptor pair and cause Waardenburg-Shah syndrome (WS4), which includes congenital hearing impairment. The current explanation for auditory dysfunction is defective migration of neural crest-derived melanocytes to the inner ear. We explored the role of endothelin signaling in auditory development in mice using neural crest-specific and placode-specific mutation plus related genetic resources.
View Article and Find Full Text PDFiScience
January 2025
CIRI, Centre International de Recherche en Infectiologie, Inserm U1111, Université Claude Bernard Lyon 1, CNRS, UMR5308, ENS de Lyon, University Lyon, F-69007 Lyon, France.
Alpha-kinase 1 (ALPK1) is an immune receptor sensing the bacterial nucleotide sugar ADP-heptose. ALPK1 phosphorylates TIFA leading to its oligomerization and downstream NF-κB activation. Specific mutations in are associated with an autoinflammatory syndrome termed ROSAH and with spiradenoma (skin cancers with sweat gland differentiation).
View Article and Find Full Text PDFJ Clin Exp Hepatol
December 2024
Department of Medical Gastroenterology, AIIMS, Bhubaneswar, India.
Objective: To assess the effects of inferior vena cava and/or hepatic vein (IVC±HV) venoplasty on liver volumetry and function in individuals with Budd Chiari syndrome (BCS) who present with ascites and at least one patent hepatic vein.
Methods: A retrospective analysis was conducted on the clinical data of 17 patients with BCS (6 males and 11 females, average age of 42.3 ± 11.
Lancet Reg Health West Pac
January 2025
Division of Nephrology, National Clinical Research Centre for Kidney Disease, State Key Laboratory of Organ Failure Research, Nanfang Hospital, Southern Medical University, Guangzhou, China.
Background: Early diagnosis of chronic kidney disease (CKD) is crucial for timely intervention to delay disease progression and improve patient outcomes. However, data for clinical characteristics of Chinese patients with undiagnosed, early-stage CKD are lacking.
Methods: REVEAL-CKD is a multinational, observational study using real-world data in selected countries to describe factors associated with undiagnosed stage 3 CKD, time to diagnosis, and CKD management post diagnosis.
Respir Med Case Rep
January 2025
Department of Rheumatology of Lucania - UOSD of Rheumatology, "Madonna delle Grazie" Hospital, Matera, Italy.
Background: Anti-Ku antibodies are autoantibodies directed against the Ku protein complex involved in DNA repair. They are typically associated with overlap syndromes featuring polymyositis and systemic sclerosis. Isolated pulmonary involvement without myositis is exceedingly rare.
View Article and Find Full Text PDFEnter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!