Beyond Human Leukocyte Antigen Class I Antigens: Hereditary Hemochromatosis Gene Mutations in Recurrent Aphthous Oral Ulcers and Behçet Disease in the South of Tunisia. (cdc.gov)
MEFV gene mutations, seen in persons with Mediterranean fever, are increased in persons with Behçet disease. (medscape.com)
HHT, characterized by AVM and capillary bed defects, is caused by germline mutations in the ENG and ACVRL1/ALK1 genes, respectively. (ainhibitor.com)
Distribution of HLA-B27 and CYP2D6*4 mutations in the middle Black Sea area (Tokat) of Turkey. (cdc.gov)
Polymorphisms4
Intercellular adhesion molecule-1 polymorphisms in patients with Behçet disease: a meta-analysis. (cdc.gov)
Association of MMP-9 gene polymorphisms with Behçet's disease risk. (cdc.gov)
IL1 gene polymorphisms in enthesitis related arthritis category of juvenile idiopathic arthritis (ERA-JIA). (cdc.gov)
Role of TNFRSF1A and TNFRSF1B polymorphisms in susceptibility, severity, and therapeutic efficacy of etanercept in human leukocyte antigen-B27-positive Chinese Han patients with ankylosing spondylitis. (cdc.gov)
Susceptibility3
FAS Gene Copy Numbers are Associated with Susceptibility to Behçet Disease and VKH Syndrome in Han Chinese. (cdc.gov)
Variants of the IFI16 gene affecting the levels of expression of mRNA are associated with susceptibility to Behçet disease. (cdc.gov)
Genotyping of relapsing polychondritis identified novel susceptibility HLA alleles and distinct genetic characteristics from other rheumatic diseases. (cdc.gov)
This phase I trial assessed the safety, efficacy, and immunologic responses to minor histocompatibility antigens following nonmyeloablative allogeneic hematopoietic cell transplantation as treatment for metastatic renal cell carcinoma. (aacrjournals.org)
Patients were monitored for donor engraftment of myeloid and lymphoid cells, for clinical response by serial imaging, and for immunologic response by in vitro isolation of donor-derived CD8 + CTLs recognizing recipient minor histocompatibility (H) antigens. (aacrjournals.org)
Association between the major histocompatibility complex and clinical response to infliximab therapy in patients with Behçet uveitis. (cdc.gov)
ERAP1 is a gene that encodes an endoplasmic reticulum amino peptidase, which acts on amino acid terminals in peptides that are then involved in HLA class I molecules, affecting their length for optimum major histocompatibility complex (MHC)-I binding. (medscape.com)
ERAP13
Epistatic interaction of ERAP1 and HLA-B in Behçet disease: a replication study in the Spanish population. (cdc.gov)
ERAP1 isoforms may affect some HLA molecules' properties. (medscape.com)
Epistatic interaction was found between HLA-B 51 and ERAP1 , which is believed to play a pathogenic role through HLA-B 51. (medscape.com)
Onset3
Higher risk of uveitis and dactylitis and older age of onset among ankylosing spondylitis patients with HLA-B*2705 than patients with HLA-B*2704 in the Chinese population. (cdc.gov)
Clinical phenotypes of Korean patients with Behcet disease according to gender, age at onset, and HLA-B51. (cdc.gov)
Patients with VUS were older at disease onset which is consistent with a milder phenotype. (bvsalud.org)
Genetic3
To investigate clinical symptoms and genetic variants in patients from the German anti-IL-1 registry for autoinflammatory orphan diseases (GARROD) between 2013 and 2022. (bvsalud.org)
Multicentre, retrospective analysis of demographic, clinical and genetic data of patients with autoinflammatory diseases (AID) who received anti-IL-1 targeted therapy. (bvsalud.org)
Genetic analyses confirmed the diagnosis in 87.3% of patients with FMF, 65.2% with CAPS and 94.8% with TRAPS. (bvsalud.org)
Distinct1
We observed a clear clustering of HLA-I alleles with distinct peptide length distributions, which enabled us to study the structural basis of peptide length distributions and predict peptide length distributions from HLA-I sequences. (aai.org)
Molecules2
HLA-I molecules bind short peptides and present them for recognition by CD8 + T cells. (aai.org)
We further identified multiple specificity in several HLA-I molecules and validated these observations with binding assays. (aai.org)
Antibodies1
In the illustration on the right, DQ1 serotyping antibodies recognizes the DQ α (magenta), where antibodies to DQA1* gene products bind variable regions close to the peptide binding pocket. (wikipedia.org)
Characteristics1
The influence of patient characteristics, disease variables, and HLA alleles on the development of radiographically evident sacroiliitis in juvenile idiopathic arthritis. (cdc.gov)
Peptides1
In this study we collected recent in-depth HLA peptidomics data, including 12 newly generated HLA peptidomes (31,896 unique peptides) from human meningioma samples, to analyze the peptide length distribution and multiple specificity across 84 different HLA-I alleles. (aai.org)
Polymorphism1
Association of microRNA-146a and its target gene IRAK1 polymorphism with enthesitis related arthritis category of juvenile idiopathic arthritis. (cdc.gov)
Hematopoietic4
Eight patients received conditioning with fludarabine and low-dose total body irradiation followed by hematopoietic cell transplantation from an HLA-matched sibling donor. (aacrjournals.org)
All patients achieved initial mixed hematopoietic chimerism with two patients rejecting their graft and recovering host hematopoiesis. (aacrjournals.org)
Treatment of metastatic renal cell carcinoma with allogeneic hematopoietic cell transplantation after nonmyeloablative conditioning with fludarabine/total body irradiation is feasible and may induce tumor regression or stabilization in some patients. (aacrjournals.org)
Haploidentical donors are increasingly used for patients requiring hematopoietic stem cell transplantation (HSCT). (hla-dr.com)
Predictors2
The Cox proportional hazard model was used to analyze the influence of pulmonary involvement and other potential predictors on patient survival. (bvsalud.org)
Background: Monocytic human leukocyte antigen DR (mHLA-DR) expression levels have been reported to be a marker of immunosuppression and predictors of sepsis and death. (hla-dr.com)
Human2
Class II Human Leukocyte Antigen (HLA) play an important role in host protection from foreign. (hla-dr.com)
Explicitly modeling peptide length distribution and multiple specificity improved predictions of naturally presented HLA-I ligands, as demonstrated in an independent benchmarking based on the new human meningioma samples. (aai.org)
Secondary2
therefore, the association between MICA6 and Behçet disease may be a secondary phenomenon related to HLA-B51. (medscape.com)
Twenty-four patients had secondary AA amyloidosis (AA) at initiation of anti-IL-1 therapy. (bvsalud.org)
Significantly4
HLA-B51 or its B101 allele is significantly associated with Behçet disease in Japan, Korea, Turkey, and France and with ocular manifestations in Britain. (medscape.com)
The MICA6 allele has recently been shown to be significantly associated with Behçet disease (74%), compared with controls (45.6%) in Japan. (medscape.com)
Their study showed that TNF-alpha -1031*C, -863*A, -857*C, and -308*G alleles were significantly associated with Behçet disease. (medscape.com)
Overall survival at 5 years was 96.4% for patients without pulmonary involvement and differed significantly between patients with ILD-w/o-PH, PAH, and being worst in patients with ILD-PH. (bvsalud.org)
Class2
Behçet disease-associated MHC class I residues implicate antigen binding and regulation of cell-mediated cytotoxicity. (cdc.gov)
The MICA allele is a polymorphic MHC class I-related A gene ( MICA ) family. (medscape.com)
Association1
The prevalence, clinical features and association of HLA-B27 in sacroiliitis associated with established Crohn's disease. (cdc.gov)
Variants1
Among this group, heterozygous MEFV variants and variants of unknown significance (VUS) were detected in 22.5% of patients with FMF, 51.2% with CAPS and 47.4% with TRAPS. (bvsalud.org)
Disease11
Four patients developed acute, grade 2 to 3, graft- versus -host disease and four patients developed extensive chronic graft- versus -host disease. (aacrjournals.org)
Five patients had progressive disease, two patients had stable disease, and one patient experienced a partial response after receiving donor lymphocyte infusions and IFN-α. (aacrjournals.org)
Clones from three patients with a partial response or stable disease recognized antigens expressed on renal cell carcinoma tumor cells. (aacrjournals.org)
Although HLA-B51 transgenic mice do not develop any manifestations of Behçet disease, their neutrophils show excessive function. (medscape.com)
In a study of 57 Egyptian patients with Behçet disease, it was found that Behçet disease was associated with HLA-A*24 and HLA-B*42 and highly associated with HLA-A*68 and B*15 and B*51, while HLA-A*03 and B*52 were protective against Behçet disease. (medscape.com)
[ 4 ] HLA-B*51 and HLA-A*68 were associated with blinding eye disease and could be a poor prognostic factor for eye involvement. (medscape.com)
They were found to be risk factors in Behçet disease patients, while HLA-A03 and B49 were found to be protective for Behçet disease. (medscape.com)
consequently, the search for genes related to Behçet disease continues. (medscape.com)
however, an inverse relationship exists between Behçet disease and this gene. (medscape.com)
Other genes were found to have a role in the pathogenesis of the disease through defects in sensing and processing of signals that are related to regulation of innate and adaptive immunity. (medscape.com)
Ankylosing Spondylitis and Axial Spondyloarthritis in Patients With Long-term Inflammatory Bowel Disease: Results From 20 Years of Follow-up in the IBSEN Study. (cdc.gov)
Imaging3
Objective To confirm the clinical significance of 99m Tc-tetrofosmin imaging for the localization of hyperfunctioning parathyroid glands in patients with primary hyperparathyroidism. (go.jp)
Methods All patients were imaged with 99m Tc-tetrofosmin at 10 minutes and 2 hours after radiotracer injection, and with ultrasonography (US), computed tomography (CT), and magnetic resonance imaging (MRI). (go.jp)
Results 99m Tc-tetrofosmin imaging demonstrated focal uptake in 19 out of 20 patients with parathyroid adenoma. (go.jp)
Study2
Ultrasonographic assessment of enthesitis in HLA-B27 positive patients with rheumatoid arthritis, a matched case-only study. (cdc.gov)
STUDY DESIGN AND METHODS: Clinical data of 5,831 patients with SSc were collected in the German Network for Systemic Sclerosis registry. (bvsalud.org)
Involvement2
HLA-B*51 was protective from neurological and vascular involvement. (medscape.com)
Kaplan-Meier estimates were used to compare overall survival in patients with SSc-associated ILD-PH and ILD-w/o-PH with patients without pulmonary involvement and those with PAH. (bvsalud.org)
Results1
RESULTS: Clinical data of 3,257 patients with a mean follow-up time of 3.45 ± 1.63 years have been included in our analysis. (bvsalud.org)
Primary1
Patients Twenty patients with primary hyperparathyroidism were referred to our clinic, underwent surgical neck exploration or mediastinotomy and were diagnosed as having parathyroid adenoma. (go.jp)
Positive1
The serotype is positive in individuals who bear the DQA1*01 alleles. (wikipedia.org)
Length1
The length of HLA-I ligands typically ranges from 8 to 12 aa, but variability is observed across different HLA-I alleles. (aai.org)
Cells1
CD8 + CTL-recognizing minor H antigens on tumor cells can be isolated posttransplant and could contribute to the graft- versus -tumor effect. (aacrjournals.org)