Phenytoin is an antiepileptic drug with a narrow therapeutic index and large interpatient pharmacokinetic variability, partly due to genetic variation in CYP2C9. Furthermore, the variant allele HLA-B*15:02 is associated with an increased risk of Stevens-Johnson syndrome and toxic epidermal necrolysis in response to phenytoin treatment. We summarize evidence from the published literature supporting these associations and provide therapeutic recommendations for the use of phenytoin based on CYP2C9 and/or HLA-B genotypes (updates on cpicpgx.org).
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http://dx.doi.org/10.1002/cpt.2008 | DOI Listing |
Biomedicines
January 2025
Immunology Service, Clinical University Hospital Virgen de la Arrixaca (HCUVA), Biomedical Research Institute of Murcia (IMIB), 30120 Murcia, Spain.
: Immunotherapy is gaining great relevance in both non-muscle-invasive bladder cancer (NMIBC), with the use of bacille Calmette-Guerin (BCG), and in muscle-invasive BC (MIBC) with anti-checkpoint therapies blocking PD-1/PD-L1, CTLA-4/CD80-CD86, and, more recently, NKG2A/HLA-E interactions. Biomarkers are necessary to optimize the use of these therapies. : We evaluated killer-cell immunoglobulin-like receptors (KIRs) and HLA-I genotyping and the expression of NK cell receptors in circulating T and NK lymphocytes at diagnosis in 325 consecutive BC patients (151 treated with BCG and 174 treated with other therapies), as well as in 648 patients with other cancers and 973 healthy donors as controls.
View Article and Find Full Text PDFAm J Reprod Immunol
February 2025
GROW Research Institute for Oncology and Reproduction, Maastricht University, Maastricht, The Netherlands.
Problem: Natural killer (NK) cells undergo education for full functionality via interactions between killer immunoglobulin-like receptors (KIRs) or NKG2A and human leukocyte antigen (HLA) ligands. Presumably, education is important during early pregnancy as insufficient education has been associated with impaired vascular remodeling and restricted fetal growth in mice. NK cell education is influenced by receptor co-expression patterns, human cytomegalovirus (CMV), the HLA-E107 dimorphism, and HLA-B leader peptide variants.
View Article and Find Full Text PDFBiomedica
December 2024
Servicio de Reumatología e Inmunología, Hospital Militar Central, Bogotá, D. C., Colombia; Grupo de Inmunología Clínica Aplicada, Hospital Militar Central, Universidad Militar Nueva Granada, Bogotá, D. C., Colombia; Grupo de Inmunología Celular y Molecular - InmuBo, Universidad El Bosque, Bogotá, D. C., Colombia.
Introduction: Psoriatic arthritis is a complex disease, and human leukocyte antigens (HLA) are key to its development. Latin America and, specifically, Colombia, has scarce data about patients with psoriatic arthritis.
Objective: To describe the genotypic, allelic and haplotypic frequency of HLA alleles in psoriatic arthritis and associate them with clinical variables.
Virol J
January 2025
Department of Microbiology and Virology, School of Medicine, Alborz University of Medical Sciences, Alborz, Iran.
Background: Human T-cell lymphotropic virus type 1 (HTLV-1) is a retrovirus that leads to lifelong infection and multiple diseases, including HAM/TSP and ATLL. Despite extensive research, the exact pathophysiology of HTLV infection and its related diseases is enigmatic. In this study, we aimed to review and analyze the effect of different HLA alleles as protective or predisposing factors in HTLV-1 infection and its progression to related diseases.
View Article and Find Full Text PDFJoint Bone Spine
January 2025
Marmara University, Institute of Health Sciences, Department of Medical Biology and Genetics, Istanbul, Turkey; Department of Medical Biology, School of Medicine, Marmara University, Istanbul, Turkey. Electronic address:
Objective: Bamboo spine is the most severe complication of Axial spondyloarthritis (AxSpA). This study aims to address whether haplotypes of endoplasmic reticulum aminopeptidase (ERAP)1 and ERAP2 single nucleotide polymorphisms (SNPs), previously associated with AXSPA, are associated with the development of bamboo spine in an AxSpA cohort.
Methods: The study included 192 patients with AxSpA followed in MARS (MARmara Spondyloarthritis) clinic and fulfilling the modified New York criteria.
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