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Increased interferon I signaling, DNA damage response and evidence of T-cell exhaustion in a patient with combined interferonopathy (Aicardi-Goutières Syndrome, AGS) and cohesinopathy (Cornelia de Lange Syndrome, CdLS).
Pediatr Rheumatol Online J
January 2025
Laboratory of Autoimmunity and Inflammation, Center for Clinical, Biomedical Research Foundation, Experimental Surgery and Translational Research, Academy of Athens, Athens, Greece.
Background: Type I interferonopathies including Aicardi-Goutiéres Syndrome (AGS) represent a heterogeneous group of clinical phenotypes. Herein, we present a Case with combined AGS and Cornelia de Lange Syndrome (CdLS)-a cohesinopathy-with comprehensive analysis of the immune and genomic abnormalities.
Case And Methods: A 20-year old man presented with chilblain lesions and resorption of distal phalanges of fingers and toes, somatic and psychomotor retardation, microcephaly, synophrys, hearing losing and other aberrancies consistent with the phenotype of CdLS.
Desensitization With Imlifidase for HLA-Incompatible Deceased Donor Kidney Transplantation: A Delphi International Expert Consensus.
Transpl Int
January 2025
Department of Microbiology, Immunology and Transplantation, KU Leuven, Leuven, Belgium.
Highly sensitized (HS) patients in need of kidney transplantation (KTx) typically spend a longer time waiting for compatible kidneys, are unlikely to receive an organ offer, and are at increased risk of antibody-mediated rejection (AMR). Desensitization using imlifidase, which is more rapid and removes total body immunoglobulin G (IgG) to a greater extent than other methods, enables transplantation to occur between HLA-incompatible (HLAi) donor-recipient pairs and allows patients to have greater access to KTx. However, when the project was launched there was limited data and clinical experience with desensitization in general and with imlifidase specifically.
View Article and Find Full Text PDFSerovars from the C-Complex and the B- and C-Related Complexes Are Significantly More Pathogenic than Those from the B-Complex in C3H/HeN but Not in BALB/c Mice.
Pathogens
January 2025
Department of Pathology and Laboratory Medicine, Medical Sciences I, Room D440, University of California, Irvine, Irvine, CA 92697-4800, USA.
Studies in humans indicate that certain serovars are more pathogenic than others. Specifically, several studies concluded that serovars from the C-complex are more pathogenic than those from the B-complex, although there are reports that do not support this finding. To investigate these results in an animal model, the eight genitourinary serovars were tested in two strains of mice: C3H/HeN and BALB/c.
View Article and Find Full Text PDFDetection and analysis of Serpin and RP26 specific antibodies for monitoring Schistosoma haematobium transmission.
PLoS Negl Trop Dis
January 2025
Department of Parasitology, Institute of Tropical Medicine (NEKKEN), Nagasaki University, Nagasaki, Japan.
Background: Schistosoma haematobium is the causative pathogen for urogenital schistosomiasis. To achieve progress towards schistosomiasis elimination, there is a critical need for developing highly sensitive and specific tools to monitor transmission in near-elimination settings. Although antibody detection is a promising approach, it is usually unable to discriminate active infections from past ones.
View Article and Find Full Text PDFAgeing and inflammation limit the induction of SARS-CoV-2-specific CD8+ T cell responses in severe COVID-19.
JCI Insight
January 2025
CNRS UMR 5164, INSERM ERL 1303, ImmunoConcEpT, University of Bordeaux, Bordeaux, France.
CD8+ T cells are critical for immune protection against severe COVID-19 during acute infection with SARS-CoV-2. However, the induction of antiviral CD8+ T cell responses varies substantially among infected people, and a better understanding of the mechanisms that underlie such immune heterogeneity is required for pandemic preparedness and risk stratification. In this study, we analyzed SARS-CoV-2-specific CD4+ and CD8+ T cell responses in relation to age, clinical status, and inflammation among patients infected primarily during the initial wave of the pandemic in France or Japan.
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