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Despite prevalence of clonal evolution in patients with aplastic anemia (AA), somatic mutation of human leukocyte antigen (HLA) gene is rarely reported. Herein, we reported a case of acquired AA (aAA) harboring a new four‐base‐pair deletion mutation within exon 4 of HLA‐B*40:02 leading to frameshift and premature stop codon. The HLA‐B*40:02 mutant allele was detected in the patient's peripheral blood...
Recent advances in technologies such as high density array‐based genotyping, DNA and RNA deep sequencing, expression quantitative‐trait loci mapping, epigenome analyses, and new computational strategies, have introduced drastic shifts into our understanding of major histocompatibility complex (MHC) association with immune‐mediated diseases. Here, we review the most exciting findings in this field...
Human leukocyte antigen (HLA) genes are very informative in population genetics studies and their variability has been widely used to reconstruct the history of geographic and/or demographic expansions of human populations. The characterization of HLA diversity at the population level is also fundamental in clinical studies, particularly for bone marrow transplantation programs. In this study, we...
Killer cell immunoglobulin‐like receptor (KIR) genes are variably distributed among populations from distinct geographic areas and ethnic origins. We describe, for the first time, KIR gene diversity in 152 unrelated and healthy Drung individuals, as measured by sequence‐specific polymerase chain reaction. All 16 known KIR genes were detected. Of these, the framework genes KIR2DL4, 3DL2, 3DL3, and...
Traditional DNA‐based typing focuses primarily on interrogating the exons of human leukocyte antigen (HLA) genes that form the antigen recognition domain (ARD). The relevance of mismatching donor and recipient for HLA variation outside the ARD on hematopoietic stem cell transplantation (HSCT) outcomes is unknown. This study was designed to evaluate the frequency of variation outside the ARD in 10...
Toxic shock syndrome toxin‐1 (TSST‐1) is a potent superantigen produced by Staphylococcus aureus. In addition to menstrual and nonmenstrual toxic shock syndromes, TSST‐1 is also implicated in the immunopathogenesis of pneumonia, infective endocarditis, neonatal exanthematous disease, and atopic dermatitis among others. Superantigens first bind to major histocompatibility complex (MHC) class II molecules...
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