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The Impact of HLA-A29 Homozygosity and of the Second HLA-A Allele on Susceptibility and Severity of Birdshot Chorioretinitis.
Invest Ophthalmol Vis Sci
November 2024
Université Paris Cité, Centre d'ophtalmologie de l'Assistance Publique, Hôpitaux de Paris, Paris, France.
Purpose: HLA-A29 is the main susceptibility factor for birdshot chorioretinitis (BSCR). Our study assessed the impact of the second HLA-A allele alongside HLA-A29 on BSCR severity and susceptibility, focusing on HLA-A29 homozygous patients and those with alleles from the HLA-Aw19 group.
Methods: We included 120 additional cases to our previous analysis of 286 patients with BSCR, all HLA-A29 positive.
The Importance of Confirming False Homozygosity in Pretransplant HLA Typing Results of Patients with Hematologic Malignancies.
Int J Med Sci
October 2024
Department of Laboratory Medicine, Inje University College of Medicine, Busan Paik Hospital, Busan, Korea.
Loss of heterozygosity (LOH) on chromosome 6p, where the HLA genes are located, can result in incorrect homozygosity findings during HLA genotyping in patients with hematologic malignancies. The degree of HLA compatibility between donor and recipient is crucial in hematopoietic stem cell transplantation. Therefore, we present a case of false homozygosity in HLA genotyping due to LOH on chromosome 6p in a patient diagnosed with acute myeloid leukemia (AML).
View Article and Find Full Text PDFCD4 T cells restricted to DRB1*15:01 recognize two Epstein-Barr virus glycoproteins capable of intracellular antigen presentation.
Proc Natl Acad Sci U S A
October 2024
Department of Neurology, Division of Neuroimmunology & Neuroinfectious Disease, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02114.
Both genetic and environmental factors contribute to multiple sclerosis (MS) risk. Infection with the Epstein-Barr virus (EBV) is the strongest environmental risk factor, and HLA-DR15 is the strongest genetic risk factor for MS. We employed computational methods and in vitro assays for CD4 T cell activation to investigate the DR15-restricted response to EBV.
View Article and Find Full Text PDFHLA gene polymorphism is a modifier of age-related breast cancer penetrance in carriers of BRCA1 pathogenic alleles.
Breast Cancer Res Treat
September 2024
N.N. Petrov Institute of Oncology, St. Petersburg, Russia.
Purpose: Female carriers of germline BRCA1 mutations almost invariably develop breast cancer (BC); however, the age at onset is a subject of variation. We hypothesized that the age-related penetrance of BRCA1 mutations may depend on inherited variability in the host immune system.
Methods: Next-generation sequencing was utilized for genotyping of HLA class I/II genes (HLA-A, HLA-B, HLA-C, HLA-DPB1, HLA-DQB1, and HLA-DRB1/3/4/5) in patients with BRCA1-associated BC with early (< / = 38 years, n = 215) and late (> / = 58 years, n = 108) age at onset.
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