Immunophenotyping in peripheral blood mononuclear cells, aqueous humour and vitreous in a Blau syndrome patient caused by a novel NOD2 mutation.

abstract：:Cytotoxic T lymphocytes (CTLs) play an essential role in the control of viral replication during human immunodeficiency virus (HIV) infection. However, the efficacy of the CTL response varies between individuals. We tested the hypothesis that genetic polymorphisms in the lytic effector molecule perforin could influenc...

journal_title：International journal of immunogenetics

authors： McIlroy D,Meyer L,Dudoit Y,Samri A,Delfraissy JF,Autran B,Debré P,Theodorou I

更新日期：2006-04-01 00:00:00

abstract：:Toll-like receptor 4 (TLR4) is the most important TLR among the pattern recognition receptors which recognizes lipopolysaccharide of gram-negative bacteria. They identify a highly conserved structure of microbes called pathogen-associated molecular patterns and activate immune and inflammatory responses that have been...

journal_title：International journal of immunogenetics

authors： Sinha S,Singh J,Jindal SK,Birbian N,Singla N

更新日期：2014-12-01 00:00:00

abstract：:A new allelic variant in MICB*005 lineage, MICB*005:09, has been identified in a male Uyghur individual recruited from Xinjiang Uyghur Autonomous Region, China by PCR-sequence-based typing (Sanger sequencing) and confirmed by cloning and sequencing. Aligned with MICB*005:03, this new allelic variant shows a synonymous...

journal_title：International journal of immunogenetics

authors： Tursun M,Wang Z,Guo W,Hasim A,Tian W

更新日期：2019-02-01 00:00:00

abstract：:We report here a novel human leukocyte antigen (HLA) allele, DRB1*1449, in the Han-Chinese population. The nature of the new allele was confirmed by the sequencing-based typing (SBT) method. Genomic DNA and six subclones containing DNA fragment of DRB1 exon 2 were sequenced in both forward and reverse directions. The ...

journal_title：International journal of immunogenetics

authors： Miao KR,Xue M,Zhou XY,Xu R,Fei XM,Pan QQ,Zhang JW,Zhao X,Fan S,KuKuruga D,Xu AL,Wang CY

更新日期：2006-02-01 00:00:00

abstract：:Routine HLA typing of a renal patient for purposes of registration for transplantation revealed an unusual human leucocyte antigen (HLA)-B and Cw genotype, with three specificities detected. Results were confirmed in a second sample, and in a second laboratory. The possibility of these results reflecting a chimaeric s...

journal_title：International journal of immunogenetics

authors： Poole K,Montague B,Roberts R,Stoves J,Bendukidze N,Clark B

更新日期：2006-08-01 00:00:00

abstract：:Heme oxygenase isoenzyme HO-1 has been linked to several cytoprotective functions with a potentially beneficial role in transplantation. In the present study, the effect of genetic variation in HO-1 on renal allograft outcome was investigated. Six hundred and eighty patients subject to renal transplantation in a singl...

journal_title：International journal of immunogenetics

authors： Turpeinen H,Kyllönen LE,Parkkinen J,Laine J,Salmela KT,Partanen J

更新日期：2007-08-01 00:00:00

abstract：:This piece was originally requested as a white paper from the Scientific and Clinical Affairs Committee of the American Society for Histocompatibility and Immunogenetics (ASHI), of which the author was then Chairman. Upon review by the ASHI Board of Directors and the Editors of their journal, it was considered too con...

journal_title：International journal of immunogenetics

authors： Eckels DD

更新日期：2008-08-01 00:00:00

abstract：:Single nucleotide polymorphisms (SNPs) in immune-related genes have been shown to play a role in driving the development of the severe phenotypes of dengue virus (DENV) infection. We assessed the association between IFNL3 gene SNP (rs12979860) and dengue clinical outcomes in children. Patients with dengue-related symp...

journal_title：International journal of immunogenetics

authors： da Silva Cezar RD,da Silva Castanha PM,Matos Freire N,Mola C,Feliciano do Carmo R,Tenório Cordeiro M,Baptista P,Silva Vasconcelos LR,Moura P,da Silva Teixeira VG

更新日期：2020-08-01 00:00:00

abstract：:Knowledge on blood group phenotypes is of key importance in clinical practice. It used in blood transfusion practice to determine the direction of recruitment of voluntary donors as required for each population within a country, and for disease association and population genetics studies. This study aimed at reporting...

journal_title：International journal of immunogenetics

authors： Doku GN,Agbozo WK,Annor RA,Kisseh GD,Owusu MA

更新日期：2019-04-01 00:00:00

abstract：:We propose a bioinformatics pipeline in which we use an ESTs database to predict and validate single-nucleotide polymorphisms (SNPs) directly linked to gene-coding regions at the HLA class I genes (HLA-A, HLA-B and HLA-C). Annotation originated from our analysis revealed various classes of possible new variations that...

journal_title：International journal of immunogenetics

authors： Figueiredo TC,de Oliveira JR

更新日期：2012-06-01 00:00:00

abstract：:Pemphigus foliaceus (PF) is an autoimmune skin disease characterized by autoantibodies directed mainly against desmoglein-1. The purpose of this study was to determine whether differential susceptibility to endemic PF in Brazil (fogo selvagem) is associated with polymorphisms at the cytogenetic location 1p13.2. Four s...

journal_title：International journal of immunogenetics

authors： Lobo-Alves SC,de Oliveira LA,Petzl-Erler ML

更新日期：2019-06-01 00:00:00

abstract：:The Luminex xMAP system has become an important tool for HLA antibody screening and identification in sera of transplant patients. Recently, the Luminex single antigen bead assay was shown to be prone to an artefact, the so called prozone phenomenon: Sera with high titer HLA antibodies gave negative results when teste...

journal_title：International journal of immunogenetics

authors： Weinstock C,Schnaidt M

更新日期：2013-06-01 00:00:00

abstract：:To identify HLA-B*15 subtypes distribution in Han population in Beijing, People's Republic of China, 826 unrelated healthy individuals were typed using the polymerase chain reaction-sequence-based typing method. Within the 246 HLA-B*15 positive individuals, 29 HLA-B*15 alleles were identified, the most predominant of ...

journal_title：International journal of immunogenetics

authors： Yang G,Deng YJ,Qin H,Zhu BF,Chen F,Shen CM,Sun ZM,Chen LP,Wu J,Mu HF,Lucas R

更新日期：2010-06-01 00:00:00

abstract：:Matrix metalloproteinase 9 plays an important role in the development of bronchial asthma. We were interested in whether the polymorphisms -T1702A, -C1562T, R279Q and +C6T within the matrix metalloproteinase 9 (MMP-9) gene were associated with asthma in a population of 231 asthmatic children. However, we found no asso...

journal_title：International journal of immunogenetics

authors： Ganter K,Deichmann KA,Heinzmann A

更新日期：2005-08-01 00:00:00

abstract：:Coenzyme Q (CoQ or ubiquinone) is a lipid-soluble component of virtually all types of cell membranes and has been shown to play multiple metabolic functions. Several clinical diseases including encephalomyopathy, cerebellar ataxia and isolated myopathy were shown to be associated with CoQ deficiency. However, the role...

journal_title：International journal of immunogenetics

authors： Cheng W,Song C,Anjum KM,Chen M,Li D,Zhou H,Wang W,Chen J

更新日期：2011-08-01 00:00:00

abstract：:Perforin is one of the key effector molecules of cytotoxic T cells and natural killer cells. The influence of HLA-DRB1 alleles on peripheral blood perforin-positive CD4, CD8, CD16 and CD 56 cells was studied by flow cytometry. HLA-DRB1 typing was done in normal healthy subjects (NHS: n = 156) and patients with pulmona...

journal_title：International journal of immunogenetics

authors： Rajeswari DN,Selvaraj P,Raghavan S,Jawahar MS,Narayanan PR

更新日期：2007-10-01 00:00:00

abstract：:Haematopoietic stem cell transplantation (HSCT), using unrelated donors (UD), is now a common modality of treatment for individuals with a variety of different diseases. HLA matching has been shown to have a significant impact on patient outcome. This study includes 423 unrelated UK patient/donor pairs. The patients a...

journal_title：International journal of immunogenetics

authors： Shaw BE

更新日期：2008-08-01 00:00:00

abstract：:Mannose-binding lectin (MBL) is a key molecule of the innate immune system and a competent to bind carbohydrates of a variety of microorganisms, resulting in complement activation and opsonophagocytosis against various pathogens. However, there is no systemic investigation on the MBL's role in innate immune responses ...

journal_title：International journal of immunogenetics

authors： Sheng A,Lan J,Wu H,Lu J,Wang Y,Chu Q,Jia Z,Song M,Liu L,Wang W

更新日期：2010-12-01 00:00:00

abstract：:In the present study, DNA typing for human leucocyte antigen (HLA)-DPB1, -DRB1, and -DQB1 was performed using polymerase chain reaction-sequence-based-typing (PCR-SBT) method on 94 randomly selected, healthy, unrelated individuals from the Ewenki ethnic population in Inner Mongolia Autonomous Region of China. A total ...

journal_title：International journal of immunogenetics

authors： Su X,Bi L,Hai R,Qimuge S,Ying M,Bahring S,Gong M

更新日期：2007-12-01 00:00:00

abstract：:Hashimoto's thyroiditis (HT) is the most prevalent autoimmune thyroid disorder caused by an interaction between genes and environmental triggers. Intrathyroid lymphocytic infiltration may lead to progressive destruction of thyroid tissue and consequently to hypothyroidism. Many studies in different populations have sh...

journal_title：International journal of immunogenetics

authors： Djurovic J,Stojkovic O,Ozdemir O,Silan F,Akurut C,Todorovic J,Savic K,Stamenkovic G

更新日期：2015-06-01 00:00:00

abstract：:HLA donor-specific antibodies developed de novo after transplant remain a major cause of chronic allograft dysfunction. Our study main purpose was to determine whether HLA MM, assessed traditionally and by HLA total and AbVer eplet mismatch load (EptMM and EpvMM) assessed with HLAMatchMaker, had impact on dnDSA develo...

journal_title：International journal of immunogenetics

authors： Tafulo S,Malheiro J,Santos S,Dias L,Almeida M,Martins S,Pedroso S,Mendes C,Lobato L,Castro-Henriques A

更新日期：2021-02-01 00:00:00

abstract：:The aim of this study was to investigate the genetic association between recurrent aphthous stomatitis (RAS) and human leucocyte antigen (HLA) class I and II alleles and HLA haplotypes. Families selected had at least one child suffering from recurrent aphthous stomatitis in addition to one or both of the parents. HLA-...

journal_title：International journal of immunogenetics

authors： Albanidou-Farmaki E,Deligiannidis A,Markopoulos AK,Katsares V,Farmakis K,Parapanissiou E

更新日期：2008-12-01 00:00:00

abstract：:The FCGR locus is characterized by high polymorphism and sequence homology. In particular, the Ile232Thr polymorphism in the FCGR2B gene results in inaccurate genotyping in most published papers. The purpose of the study was to develop an accurate genotyping assay able to discriminate this polymorphism. ...

journal_title：International journal of immunogenetics

authors： Bonatti F,Adorni A,Percesepe A,Martorana D

更新日期：2018-02-01 00:00:00

abstract：:Polymorphic Alu insertions (POALINs) are found throughout the human genome and have been used in various studies to infer geographic origin of human populations. The main aim of this study was to determine the allele and haplotype frequencies of five POALINs, AluHF, AluHG, AluHJ, AluTF and AluMICB, within the major hi...

journal_title：International journal of immunogenetics

authors： Kulski JK,Mawart A,Marie K,Tay GK,AlSafar HS

更新日期：2019-08-01 00:00:00

abstract：:Genome-wide association studies identified many loci associated with the two forms of inflammatory bowel disease (IBD), Crohn's disease (CD) and ulcerative colitis (UC). Components of the interleukin-23 signalling pathway, such as IL23R, JAK2 and STAT3, have been implicated in both diseases. In addition, emerging evid...

journal_title：International journal of immunogenetics

authors： Polgar N,Csongei V,Szabo M,Zambo V,Melegh BI,Sumegi K,Nagy G,Tulassay Z,Melegh B

更新日期：2012-06-01 00:00:00

abstract：:Food allergy is a potentially fatal immune-mediated disorder with incompletely understood mechanisms. We studied the genetic control of food allergy using major histocompatibility complex-identical mice (H2(s)) and an adjuvant-free method of sensitization. Whereas, transdermal exposure to hazelnut - a model allergenic...

journal_title：International journal of immunogenetics

authors： Parvataneni S,Birmingham NP,Gonipeta B,Gangur V

更新日期：2009-10-01 00:00:00

abstract：:In the present study, we addressed the question of how often HLA-DRB1-matched donors can be found by further typing of AB-matched donors and whether Cw preselection can be helpful. Sixty-eight patients and 174 donors were enrolled in the study. In all donors, confirmatory DNA Cw typing was performed to check reliabili...

journal_title：International journal of immunogenetics

authors： Nowak J,Mika-Witkowska R,Zajko M,Łopacz P

更新日期：2005-10-01 00:00:00

abstract：:The Toll-like receptors (TLRs) are related to innate immunity. TLR9, a member of TLRs, is expressed in immune cell-rich tissues and mediates cellular response. We investigated the association between TLR9 polymorphisms and kidney allograft outcomes. To investigate whether TLR9 polymorphisms are associated with acute r...

journal_title：International journal of immunogenetics

authors： Kim TH,Jeong KH,Kim SK,Lee SH,Ihm CG,Lee TW,Moon JY,Yoon YC,Chung JH,Park SJ,Kang SW,Kim YH

更新日期：2013-12-01 00:00:00

abstract：:C-reactive protein (CRP) is an inflammation marker implicated in the pathogenesis of schizophrenia. To investigate association of the CRP rs1417938, rs1800947, rs1205 variants with susceptibility to schizophrenia 208 unrelated Armenians (103 patients and 105 healthy controls) were genotyped. In this pilot study, none ...

journal_title：International journal of immunogenetics

authors： Zakharyan R,Chavushyan A,Khoyetsyan A,Stahelova A,Arakelyan A,Boyajyan A,Mrazek F,Petrek M

更新日期：2010-10-01 00:00:00

abstract：:We report here the novel variant of HLA-DRB1*09:01, DRB1*09:01:08, discovered in a Taiwanese volunteer bone marrow donor by a sequence-based typing (SBT) method. The DNA sequence of DRB1*09:01:08 is identical to the sequence of DRB1*09:01:02 in exon 2 except a silent mutation at nucleotide position 261(C→T) (GCC→GCT a...

journal_title：International journal of immunogenetics

authors： Yang KL,Lee SK,Yang SY,Kao RH,Lin CL,Lin PY

更新日期：2013-04-01 00:00:00