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Genomic profiling at a single center cracks the code in inborn errors of immunity.
Intern Emerg Med
January 2025
Unit of Internal Medicine and Clinical Oncology "G. Baccelli", Department of Precision and Regenerative Medicine and Ionian Area (DiMePRe-J), University of Bari Aldo Moro Medical School, Bari, Italy.
Inborn errors of immunity (IEI) entail a diverse group of disorders resulting from hereditary or de novo mutations in single genes, leading to immune dysregulation. This study explores the clinical utility of next-generation sequencing (NGS) techniques in diagnosing monogenic immune defects. Eight patients attending the immunodeficiency clinic and with unclassified antibody deficiency were included in the analysis.
View Article and Find Full Text PDFBRN3A, a transcription factor, regulates the expression of genes involved in biological processes shaping the HPV induced cervical cancer.
Genes Genomics
January 2025
Cytogenetics Laboratory, Department of Zoology, Institute of Science, Banaras Hindu University, Varanasi, 221005, India.
Background: Cervical cancer is the fourth most common cancer worldwide in females. This occurs primarily due to the infection of high-risk Human Papilloma Virus (HPV), although in advanced stages it requires support from host cellular factors. BRN3A is one such host cellular factors, whose expression remains high in cervical cancers and upregulates tumorigenic HPV gene expression.
View Article and Find Full Text PDFTTC7A Variants Results in Gastrointestinal Defects and Immunodeficiency Syndrome: Case Series and Literature Review.
Clin Rev Allergy Immunol
January 2025
Department of Neonatal Surgery, Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou, China.
Gastrointestinal Defects and Immunodeficiency Syndrome-1 (GIDID-1), caused by abnormalities in TTC7A, is an autosomal recessive disorder characterized by multiple gastrointestinal malformations and immune deficiencies, often accompanied by inflammatory bowel disease (IBD). This condition typically results in poor treatment outcomes and is usually fatal in early infancy. This paper examined the genetic abnormalities and clinical features of GIDID by analyzing data from three children and one fetus with gastrointestinal dysfunction and immune deficiency associated with TTC7A abnormalities at our hospital, and reviewed reported cases worldwide.
View Article and Find Full Text PDFMorphological identification and phylogenetic analysis of Eimeria coypi and Eimeria fluviatilis (Apicomplexa: Eimeriidae) isolated from nutrias (Myocastor coypus [Rodentia]) in Japan.
Syst Parasitol
January 2025
Department of Veterinary Science, Graduate School of Life and Environmental Sciences, Osaka Metropolitan University, Izumisano, Osaka, 598-8531, Japan.
The nutria (Myocastor coypus) is a semiaquatic rodent that originally inhabited South America. However, the animals have spread to different continents as alien species, and their numbers are quickly increasing, especially in North America, Europe, and Eastern Asia including Japan. Although nutrias have been suggested to serve as reservoirs for pathogens, including parasites, there have been few reports on this subject.
View Article and Find Full Text PDFDevelopment and utilization of a multiplex PCR assay for detecting three feline enteroviruses.
Mol Biol Rep
January 2025
College of Veterinary Medicine, Qingdao Agricultural University, Qingdao, 266109, PR China.
Background: Feline diarrhea is a common digestive tract disease in clinical practice, with watery feces as the main clinical manifestation. There are numerous pathogenic factors causing feline diarrhea, among which viral infections are prevalent, and feline panleukopenia virus (FPV) is the most common pathogen. In recent years, a variety of novel viruses have been detected in the intestines of cats with diarrhea.
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