• Alleles
  • Hundreds of HLA-B alleles have been described. (nih.gov)
  • HLA-B alleles are associated with dermatitis herpetiformis in Chinese population. (nih.gov)
  • HLA-B13:02, HLA-B38:02, HLA-B44:03, and HLA-B56:01 alleles were significantly increased in autistic subjects. (nih.gov)
  • HLA-B18:02 and HLA-B46:12 alleles were negatively associated with autism when compared to normal controls. (nih.gov)
  • The HLA Alleles B*0801 and DRB1*0301 Are Associated with Dermatitis Herpetiformis in a Chinese Population. (nih.gov)
  • Significant Association of HLA-B Alleles and Genotypes in Thai Children with Autism Spectrum Disorders: A Case-Control Study. (nih.gov)
  • Polymerase chain reaction using sequence-specific primers was used to determine the genotypes of KIR genes and HLA-C alleles. (springermedizin.de)
  • Several alleles of B51 (B*5101, B*5108, B*5105, and B*5104) are found in disease, and linkage to markers, D6S285, in the HLA locus was strong (P>0.005). (wikipedia.org)
  • A common serologically defined haplotype in Europeans is HLA A3-Cw7-B7-DR15-DQ6.2 which is composed of alleles A*0301:Cw*0701:B*0702:DRB1*1501:DQA1*0102:DQB1*0602. (wikipedia.org)
  • In Croatian children, two HLA-B27 alleles were found associated with disease, B*2702, B*2705. (wikipedia.org)
  • A more recent study looked at a number of linked gene-alleles and found I82-2:D6S265-1:HLA-A3:D6S128-2:HLA-F1:D6S105-8 was constantly associated while B7 appeared beyond the haplotype linked to disease. (wikipedia.org)
  • Hundreds of versions (alleles) of HLA-B are known, each of which is given a particular number (such as HLA-B27). (wikipedia.org)
  • HLA genes are highly polymorphic, which means that they have many different alleles, allowing them to fine-tune the adaptive immune system. (wikipedia.org)
  • inflammation
  • The HLA-B*35 antigen contributes to endoplasmic reticulum stress and inflammation in limited cutaneous systemic sclerosis patients. (nih.gov)
  • The HLA-B*35 allele modulates ER stress, inflammation and proliferation in PBMCs from Limited Cutaneous Systemic Sclerosis patients. (nih.gov)
  • The autoinflammatory diseases are characterized by seemingly unprovoked episodes of inflammation, without high-titer autoantibodies or antigen-specific T cells. (pubmedcentralcanada.ca)
  • Both FMF and TRAPS are characterized by seemingly unprovoked, recurrent episodes of fever, serositis, arthritis, and cutaneous inflammation, but the usual hallmarks of autoimmunity, namely high-titer autoantibodies and antigen-specific T cells, are usually absent. (pubmedcentralcanada.ca)
  • It is most commonly associated with HLA-B27, which has important features: HLA-B27 AAU can be associated with ocular inflammation alone or in association with systemic disease. (wikipedia.org)
  • Other research suggests that joint inflammation characteristic of this disorder may result from improper folding of the HLA-B27 protein or the presence of abnormal forms of the protein on the cell surface. (wikipedia.org)
  • receptors
  • The PTGER4 gene codes for the prostaglandin EP4 receptor (EP4), one of four receptors for prostaglandin E2. (wikipedia.org)
  • ARTS1 is also known as: ER aminopeptidase 1 (ERAP1) the name accepted by the Hugo Gene Nomenclature Committee ER aminopeptidase associated with antigen processing (ERAAP) Adipocyte-derived leucine aminopeptidase (ALAP) Puromycin-insensitive leucine aminopeptidase (PILS-AP) ERAP1 has two major functions in the immune system: First, ERAP1 cleaves several proteins called cytokine receptors on the surface of cells. (wikipedia.org)
  • Accumulating evidences indicate that killer cell immunoglobulin-like receptors (KIRs) and their corresponding specific HLA-C ligands contribute to the pathogenesis of multiple autoimmune diseases via the modulation of natural killer (NK) cell and T cell functions. (springermedizin.de)
  • MHC interacts with TCR and its co-receptors to optimize binding conditions for the TCR-antigen interaction, in terms of antigen binding affinity and specificity, and signal transduction effectiveness. (wikipedia.org)
  • In contrast to NKT cells, NK cells do not express T-cell antigen receptors (TCR) or pan T marker CD3 or surface immunoglobulins (Ig) B cell receptors, but they usually express the surface markers CD16 (FcγRIII) and CD56 in humans, NK1.1 or NK1.2 in C57BL/6 mice. (wikipedia.org)
  • These cells have receptors that are similar to B cell receptors, and each cell recognizes only a few class II-peptide combinations. (wikipedia.org)
  • Once a T cell recognizes a peptide within an MHC class II molecule, it can stimulate B-cells that also recognize the same molecule in their B cell receptors. (wikipedia.org)
  • allele
  • The study showed also B*0702 in cooperation with B*27, the HLA-B*07/B*27 combination with D6S273-134 genomic marker allele and was found not to be the result of linkage disequilibrium. (wikipedia.org)
  • loci
  • Dense genotyping of immune-related loci identifies HLA variants associated with increased risk of collagenous colitis. (ki.se)
  • Many of these gene loci assemble in dissimilar immunoregulatory pathways , which are related to NF-kB signaling, IL-23 pathway, and T cell phenotype as well as antigen presentation [5, (thefreelibrary.com)
  • The HFE gene responsible for haemochromatosis is distal on chromosome 6 from HLA-A and more so from HLA-B, the distance suffices (3 million nucleotides) to allow equilibration of the loci. (wikipedia.org)
  • immunological
  • More recently it has become accepted that autoimmune responses are an integral part of vertebrate immune systems (sometimes termed "natural autoimmunity"), normally prevented from causing disease by the phenomenon of immunological tolerance to self-antigens. (wikipedia.org)
  • NK cells also play a role in the adaptive immune response: numerous experiments have demonstrated their ability to readily adjust to the immediate environment and formulate antigen-specific immunological memory, fundamental for responding to secondary infections with the same antigen. (wikipedia.org)
  • Polymorphism
  • We used four recombinant variants to address the combined effects of the K528R and D575N polymorphism on the processing of HLA-B27 ligands. (pubmedcentralcanada.ca)
  • On the basis of that study, we proposed that the mechanism of functional interaction between these two proteins, and presumably the basis for their joint association with AS, is the alteration in the balance between epitope generation and destruction induced by ERAP1 polymorphism on the HLA-B27 peptidome. (pubmedcentralcanada.ca)
  • endoplasmic reticulum
  • ERAP1 is a multifunctional aminopeptidase of the endoplasmic reticulum involved in the final processing steps of major histocompatibility complex class I (MHC-I) ligands. (pubmedcentralcanada.ca)
  • Type 1 tumor necrosis factor receptor shedding aminopeptidase regulator, also known as endoplasmic reticulum aminopeptidase 1 (ARTS-1), is a protein which in humans is encoded by the ARTS-1 gene. (wikipedia.org)
  • infection
  • Among people with human immunodeficiency virus (HIV) infection, a version of HLA-B designated HLA-B*5701 is associated with an extreme sensitivity to abacavir. (wikipedia.org)
  • Several other variations of the HLA-B gene appear to play a role in the progression of HIV infection to acquired immunodeficiency syndrome (AIDS). (wikipedia.org)
  • Studies suggest that people with HIV infection who have HLA-B27 or HLA-B57 tend to progress more slowly than usual to AIDS. (wikipedia.org)
  • citation needed
  • citation needed] HLA-B7 along with HLA-DQ8 increased risk for cervical cancer in at risk Costa Rican women and Asian Indians A relationship between HLA-B7 and sarcoidosis has been known for 30+ years. (wikipedia.org)
  • disease
  • See 'Patient education: Disease-modifying antirheumatic drugs (DMARDs) (Beyond the Basics)' and 'Patient education: Arthritis and exercise (Beyond the Basics)' . (uptodate.com)
  • See 'Patient education: Reactive arthritis (Beyond the Basics)' and 'Patient education: Psoriatic arthritis (Beyond the Basics)' and 'Patient education: Ulcerative colitis (Beyond the Basics)' and 'Patient education: Crohn disease (Beyond the Basics)' . (uptodate.com)
  • The fact that the association of ERAP1 with AS concerns only the HLA-B27-positive disease ( 8 , 9 ) strongly suggests that it is based on the functional interaction between ERAP1 and HLA-B27. (pubmedcentralcanada.ca)
  • The role of HLA antigens as indicators of disease progression in psoriatic arthritis. (wikipedia.org)
  • Homozygotes of B51 showed considerably high risk for disease indicating a possible gene-dose effect. (wikipedia.org)
  • HLA-B51 is found more frequently in disease that has an eye involvement. (wikipedia.org)
  • Specificities
  • An Easy and Sensitive Method to Profile the Antibody Specificities of HLA-Specific Memory B Cells. (nih.gov)
  • antibodies
  • Human peripheral blood cells after erythrocyte lysis were stained with Anti-HLA-B7, B27 antibodies or with the corresponding REA Control (S) antibodies (left images). (miltenyibiotec.com)
  • A paired kidney analysis on the impact of pre-transplant anti-HLA antibodies on graft survival. (nih.gov)
  • Pretransplant C3d-Fixing Donor-Specific Anti-HLA Antibodies Are Not Associated with Increased Risk for Kidney Graft Failure. (nih.gov)
  • Differential effects of donor-specific HLA antibodies in living versus deceased donor transplant. (nih.gov)
  • These particular antigens stimulate the multiplication of T-helper cells (also called CD4 positive T cells), which in turn stimulate antibody-producing B-cells to produce antibodies to that specific antigen. (wikipedia.org)
  • proteins
  • The human leukocyte antigen (HLA) system or complex is a gene complex encoding the major histocompatibility complex (MHC) proteins in humans. (wikipedia.org)
  • MHC class I proteins associate with β2-microglobulin, which unlike the HLA proteins is encoded by a gene on chromosome 15. (wikipedia.org)
  • Through a similar process, proteins (both native and foreign, such as the proteins of virus) produced inside most cells are displayed on HLAs (to be specific, MHC class I) on the cell surface. (wikipedia.org)
  • cells
  • Interferon-inducible gene expression signature in peripheral blood cells of patients with severe lupus. (springer.com)
  • The generation/destruction balance of two related HLA-B27 ligands was analyzed in vitro and in live cells. (pubmedcentralcanada.ca)
  • Upon binding, T cells should in principle tolerate the auto-antigen, but activate when exposed to the allo-antigen. (wikipedia.org)
  • Naive CD4+ T cells (those that have not encountered any antigens before) recovered from these mice 36 hours post-anti-MHC administration showed decreased responsiveness to the antigen pigeon cytochrome C peptide, as determined by Zap-70 phosphorylation, proliferation, and Interleukin-2 production. (wikipedia.org)
  • They were named "natural killers" because of the initial notion that they do not require activation to kill cells that are missing "self" markers of MHC class 1. (wikipedia.org)
  • Self-antigens are suppressed by regulatory T cells. (wikipedia.org)
  • When a foreign pathogen enters the body, specific cells called antigen-presenting cells (APCs) engulf the pathogen through a process called phagocytosis. (wikipedia.org)
  • They are then displayed by the antigen-presenting cells to CD4+ helper T cells, which then produce a variety of effects to eliminate the pathogen. (wikipedia.org)
  • protein
  • Leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1 is a protein that in humans is encoded by the LILRA1 gene. (wikipedia.org)
  • The image off to the side shows a piece of a poisonous bacterial protein (SEI peptide) bound within the binding cleft portion of the HLA-DR1 molecule. (wikipedia.org)
  • molecular
  • Gene expression signatures can provide an unbiased view into the molecular changes underlying biologically and medically interesting phenotypes. (springer.com)
  • Early and long-standing rheumatoid arthritis: distinct molecular signatures identified by gene-expression profiling in synovia. (springer.com)
  • ERAP1
  • The hydrolysis of fluorogenic and peptide substrates by an HLA-B27 ligand or a shorter peptide, respectively, was increasingly inhibited as a function of ERAP1 activity, indicating that residues 528 and 575 affect substrate inhibition of ERAP1 trimming. (pubmedcentralcanada.ca)
  • variants
  • Functional variants in the sucrase-isomaltase gene associate with increased risk of irritable bowel syndrome. (ki.se)
  • Three transcript variants encoding two different isoforms have been found for this gene. (wikipedia.org)
  • molecule
  • This class I molecule is a heterodimer consisting of a heavy chain and a light chain (beta-2 microglobulin). (nih.gov)
  • 2002) injected an anti-MHC Class II antibody into mice expressing a single type of MHC Class II molecule (H-2b) to temporarily prevent CD4+ T cell-MHC interaction. (wikipedia.org)
  • inflammatory
  • This discovery followed close on the heels of the positional cloning of the gene for a similar recessively inherited illness, familial Mediterranean fever (FMF) ( 3 , 4 ), and thereby raised the possibility that these disorders might be prototypes for an emerging family of inflammatory diseases. (pubmedcentralcanada.ca)
  • genetic factors
  • We believe the current IBS "label" is inadequate to capture the true spectrum of a IBS manifestations, where the weight of genetic factors may range from rare single-gene forms to extremely complex polygenic conditions. (ki.se)
  • person's
  • Any cell displaying that person's HLA type belongs to that person and, therefore, is not an invader. (wikipedia.org)