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K T Amber, J Zikry, M Hertl
Bullous pemphigoid (BP) is the most common autoimmune blistering disease and is linked to IgG recognition of 2 hemidesmosomal antigens, that is, BP230 (BP antigen 1) and BP180 (BP antigen 2, collagen XVII). The association of BP with other systemic diseases, particularly neurocognitive diseases, provides a potential clue in the underlying pathogenesis of BP. The role of HLA-DQB1*03:01 binding to the immunogenic portion of BP180 provides a potential mechanism by which exposure to neuronal collagen BP180 may lead to cutaneous disease...
January 19, 2017: HLA
E Catamo, L Zupin, N Freato, V Polesello, F Celsi, S L Crocè, F Masutti, G Pozzato, L Segat, S Crovella
BACKGROUND: Hepatitis C virus (HCV) is able to bypass the immune system modulating innate and adaptive immune response and blocking T helper 1 (Th1) cell production. Because the human leukocyte antigen (HLA)-G molecule has immunomodulatory properties inhibiting the function and production of natural killer and cytotoxic lymphocyte T cells, as well as promoting shift from Th1 toward Th2 response, we hypothesized its involvement in susceptibility to HCV infection. MATERIALS AND METHODS: Considering that HLA-G mRNA expression has been reported to be under genetic control, an association study was conducted analyzing 800 base pairs upstream the ATG at the 5'upstream regulator region (URR) and 850 base pairs from ATG to exon 3 and the 3'untranslated region (UTR) of HLA-G gene in Italian HCV-positive patients and uninfected controls...
January 13, 2017: HLA
Z Li, H-Y Zou
Full-length sequence of HLA-B*52:01:01:01 and B*52:01:02:01, identified by cloning and sequencing in Chinese donors.
January 10, 2017: HLA
S-H Han, O-J Kwon, H-S Lim, S-Y Hwang, K-R Lee
HLA-B*40:332 differs from B*40:01:02 by 1 nucleotide difference at nucleotide position 439.
February 2017: HLA
J A Olson, Y Gibbens, K Tram, J Kempenich, J Novakovich, K Buck, J Dehn
BACKGROUND: Despite over 6 million subjects contributing to the National Marrow Donor Program human leukocyte antigen (HLA) haplotype frequency reference data (HFD), haplotypes cannot be predicted from the HLA assignments of some patients searching for an unrelated donor (URD) in the Be The Match Registry®. We aimed to determine the incidence of these patient searches and whether haplotypes lacking from the HFD can be found among the low-resolution typed URD pool. MATERIALS AND METHODS: New NMDP searches with uncommon patient haplotypes (UPH), defined as a lack of haplotype pairs in any single ethnic group in the HFD based upon HLA-A˜C˜B˜DRB1˜DQB1, were identified...
February 2017: HLA
X-Y Zhou, P Jiang, L-Q Zhang, J Cui, J-P Cai
The new allele HLA-B*55:83N differs from HLA-B*55:02:01:01 by a single nucleotide.
February 2017: HLA
J Kwok, J C Y Ho, Y S Chan, A Soormally, S G E Marsh
The new HLA-B*39:01:01:04 allele differs from HLA-B*39:01:01 by a C → T substitution in intron 1.
February 2017: HLA
E K L Yang, S G E Marsh, P-Y Chen, C-P Chen, S-P Chen, P Y Lin
Chimerism is defined as the presence of 2 or more than 1 genetically distinct cell populations in an organism. Dispermic chimeras are derived from the fertilization of 1 or 2 matured nuclei by 2 sperms. We here report detection of a healthy and phenotypically normal female with normal ABO red blood cell typing in whom dispermic chimerism was suspected after 3 alleles were identified at multiple human leukocyte antigen (HLA) loci using molecular HLA analysis. Molecular HLA typing showed the donor to have 3 HLA-A, -B, -C, -DRB1, -DQB1 and -DPB1 alleles in blood, saliva and nail samples...
February 2017: HLA
J Wang, J R Meade, N K Brown, J G Weidner, S R Marino
A limitation of solid-phase human leukocyte antigen (HLA) antibody assays is the falsely low/negative result of samples with high-titer antibodies, a phenomenon known as the prozone effect. Here we compared the efficacy of ethylenediaminetetraacetic acid (EDTA) and dithiothreitol (DTT) treatment of serum samples in overcoming the prozone effect. A total of 21 serum samples were treated with either EDTA or DTT before HLA single antigen bead assay. The efficacy of prozone effect reversal, compared with untreated samples, was examined on fourfold, serially diluted samples, from neat to 1:256, using PBS as diluent...
February 2017: HLA
E W Petersdorf
The availability of hematopoietic cell transplantation as curative therapy for blood disorders has been dramatically improved through a better understanding of the human leukocyte antigen (HLA) barrier. Although a fully compatible unrelated donor is preferable, transplantation from donors with a limited degree of HLA mismatching is associated with acceptable outcomes in many cases. Research on the limits of HLA mismatching, and the features that define permissible HLA mismatches will continue to enable transplantation to be more broadly available to patients in need...
February 2017: HLA
Bin Tu, Carly Masaberg, Lihua Hou, Daniel Behm, Peter Brescia, Nuri Cha, Kanthi Kariyawasam, Jar How Lee, Thoa Nong, John Sells, Paul Tausch, Ruyan Yang, Jennifer Ng, Carolyn Katovich Hurley
BACKGROUND: Sanger-based DNA sequencing of exons 2+3 of HLA class I alleles from a heterozygote frequently results in two or more alternative genotypes. This study was undertaken to reduce the time and effort required to produce a single high resolution HLA genotype. MATERIALS AND METHODS: Samples were typed in parallel by Sanger sequencing and oligonucleotide probe hybridization. This workflow, together with optimization of analysis software, was tested and refined during the typing of over 42,000 volunteers for an unrelated hematopoietic progenitor cell donor registry...
February 2017: HLA
R Chen, G-B Zhang, Z-H Deng
The novel KIR2DL1*034 allele differs from the closest allele KIR2DL1*00302 by a single missense mutation.
February 2017: HLA
A Sanchez-Mazas, J M Nunes, D Middleton, J Sauter, S Buhler, A McCabe, J Hofmann, D M Baier, A H Schmidt, G Nicoloso, M Andreani, Z Grubic, J-M Tiercy, K Fleischhauer
BACKGROUND: A catalogue of common and well-documented (CWD) human leukocyte antigen (HLA), previously established by the American Society for Histocompatibility and Immunogenetics (ASHI), is widely used as indicator for typing ambiguities to be resolved in tissue transplantation or for checking the universality of any HLA allele in the world. However, European population samples, which are characterized by a substantial level of genetic variation, are underrepresented in the ASHI catalogue...
February 2017: HLA
Y Y Zhou, Y F Yao, Q Y Ni, M W Zhang, H L Xu
Ten novel MHC-DPB1 alleles of Tibetan macaque, were identified by cloning and sequencing.
February 2017: HLA
L Brunet, F Bettens, J Villard, S Ferrari-Lacraz, S Buhler
A total of 3 novel human leukocyte antigen-B (HLA-B) alleles were detected by next generation sequencing and confirmed by monoallelic sequencing.
February 2017: HLA
K L Yang, P Y Lin
One nucleotide exchange at residue 768 of the HLA-C*07:02:01:01 results in a novel allele, HLA-C*07:544.
February 2017: HLA
S Caillat-Zucman
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. We show how the fine characterization of structural features and expression levels of MHC alleles, posttranslational or environmental modifications of HLA-bound peptides, and epistatic interactions with non-HLA genes, has made it possible not only to provide mechanistic explanations for MHC associations with immune-mediated diseases but also to help choose relevant therapeutic targets...
January 2017: HLA
T-D Jeong, Y-C Mun, H-S Chung, D Seo, J Im, J Huh
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 sample not in patient's buccal epithelial cells. The patient received allogenic hematopoietic stem cell transplantation (HSCT) from HLA-matched sibling donor...
January 2017: HLA
X-H Liu, X-Y Chi, Z-H Feng, B Hu, S-X Jiao
A novel HLA-A*24 allele, A*24:02:61, confirmed in a Chinese individual.
January 2017: HLA
L Hou, C Vierra-Green, A Lazaro, C Brady, M Haagenson, S Spellman, C K Hurley
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 of 10 (HLA-A, -B, -C, -DRB1, -DQB1) matched unrelated donor transplant pairs (n = 360). Next-generation DNA sequencing was used to characterize both HLA exons and introns for HLA-A, -B, -C alleles; exons 2, 3 and the intervening intron for HLA-DRB1 and exons only for HLA-DQA1 and -DQB1...
January 2017: HLA
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