keyword
https://read.qxmd.com/read/37239386/the-second-highest-prevalence-of-celiac-disease-worldwide-genetic-and-metabolic-insights-in-southern-brazilian-mennonites
#21
JOURNAL ARTICLE
Luana Caroline Oliveira, Amanda Coelho Dornelles, Renato Mitsunori Nisihara, Estevan Rafael Dutra Bruginski, Priscila Ianzen Dos Santos, Gabriel Adelman Cipolla, Stefanie Epp Boschmann, Iara José de Messias-Reason, Francinete Ramos Campos, Maria Luiza Petzl-Erler, Angelica Beate Winter Boldt
Celiac disease (CD), despite its high morbidity, is an often-underdiagnosed autoimmune enteropathy. Using a modified version of the Brazilian questionnaire of the 2013 National Health Survey, we interviewed 604 Mennonites of Frisian/Flemish origin that have been isolated for 25 generations. A subgroup of 576 participants were screened for IgA autoantibodies in serum, and 391 participants were screened for HLA-DQ2.5/DQ8 subtypes. CD seroprevalence was 1:29 (3.48%, 95% CI = 2.16-5.27%) and biopsy-confirmed CD was 1:75 (1...
April 30, 2023: Genes
https://read.qxmd.com/read/37124658/a-clinical-laboratory-study-of-a-non-classical-case-of-celiac-disease-how-to-anticipate-the-diagnosis
#22
Ana Comes Raga, Irene Millá Tamarit, Marta Fandos Sánchez, Pilar Teresa Timoneda Timoneda, Clara Marti Macia, Ana Belén Durá Ayet, Goitzane Marcaida Benito
Celiac disease (CD) is a systemic autoimmune pathological condition caused by the intake of gluten in genetically predisposed individuals. Despite its wide prevalence, it remains an underdiagnosed disease since a large percentage of individuals who suffer from the condition do not have the classic symptoms described for the disease. We present the case of a 43-year-old man with severe iron deficiency and asthenia. We found high levels of anti-transglutaminase and anti-endomysium antibodies, a severe intraepithelial lymphocytosis, 3A Marsh-Oberhuber classification upon gastroscopy and the presence of HLA-DQ2 and HLA-DQ8 heterodimers...
April 2023: EJIFCC
https://read.qxmd.com/read/37103600/specific-genetic-polymorphisms-contributing-in-differential-binding-of-gliadin-peptides-to-hla-dq-and-tcr-to-elicit-immunogenicity-in-celiac-disease
#23
JOURNAL ARTICLE
Pratibha Banerjee, Ramprasad Chaudhary, Atul Kumar Singh, Pratima Parulekar, Shashank Kumar, Sabyasachi Senapati
Immunogenicity of gliadin peptides in celiac disease (CD) is majorly determined by the pattern of molecular interactions with HLA-DQ and T-cell receptors (TCR). Investigation of the interactions between immune-dominant gliadin peptides, DQ protein, and TCR are warranted to unravel the basis of immunogenicity and variability contributed by the genetic polymorphisms. Homology modeling of HLA and TCR done using Swiss Model and iTASSER, respectively. Molecular interactions of eight common deamidated immune-dominant gliadin with HLA-DQ allotypes and specific TCR gene pairs were evaluated...
April 27, 2023: Biochemical Genetics
https://read.qxmd.com/read/37085458/intranasal-administration-of-adenoviral-vaccines-expressing-sars-cov-2-spike-protein-improves-vaccine-immunity-in-mouse-models
#24
JOURNAL ARTICLE
Tobias L Freitag, Riku Fagerlund, Nihay Laham Karam, Veli-Matti Leppänen, Hasan Ugurlu, Ravi Kant, Petri Mäkinen, Ahmed Tawfek, Sawan Kumar, Tomas Strandin, Katarzyna Leskinen, Jussi Hepojoki, Tapio Kesti, Lauri Kareinen, Suvi Kuivanen, Emma Koivulehto, Aino Sormunen, Svetlana Laidinen, Ayman Khattab, Päivi Saavalainen, Seppo Meri, Anja Kipar, Tarja Sironen, Olli Vapalahti, Kari Alitalo, Seppo Ylä-Herttuala, Kalle Saksela
The ongoing SARS-CoV-2 pandemic is controlled but not halted by public health measures and mass vaccination strategies which have exclusively relied on intramuscular vaccines. Intranasal vaccines can prime or recruit to the respiratory epithelium mucosal immune cells capable of preventing infection. Here we report a comprehensive series of studies on this concept using various mouse models, including HLA class II-humanized transgenic strains. We found that a single intranasal (i.n.) dose of serotype-5 adenoviral vectors expressing either the receptor binding domain (Ad5-RBD) or the complete ectodomain (Ad5-S) of the SARS-CoV-2 spike protein was effective in inducing i) serum and bronchoalveolar lavage (BAL) anti-spike IgA and IgG, ii) robust SARS-CoV-2-neutralizing activity in the serum and BAL, iii) rigorous spike-directed T helper 1 cell/cytotoxic T cell immunity, and iv) protection of mice from a challenge with the SARS-CoV-2 beta variant...
April 14, 2023: Vaccine
https://read.qxmd.com/read/37040399/a-mutagenesis-study-of-autoantigen-optimization-for-potential-t1d-vaccine-design
#25
JOURNAL ARTICLE
Yi Song, David R Bell, Rizwan Ahmed, Kevin C Chan, Sangyun Lee, Abdel Rahim A Hamad, Ruhong Zhou
A previously reported autoreactive antigen, termed the X-idiotype, isolated from a unique cell population in Type 1 diabetes (T1D) patients, was found to stimulate their CD4+ T cells. This antigen was previously determined to bind more favorably than insulin and its mimic (insulin superagonist) to HLA-DQ8, supporting its strong role in CD4+ T cell activation. In this work, we probed HLA-X-idiotype-TCR binding and designed enhanced-reactive pHLA-TCR antigens using an in silico mutagenesis approach which we functionally validated by cell proliferation assays and flow cytometry...
April 18, 2023: Proceedings of the National Academy of Sciences of the United States of America
https://read.qxmd.com/read/36816433/human-leukocyte-antigen-dq-genotyping-in-pediatric-celiac-disease
#26
JOURNAL ARTICLE
Stuti Pareek, Raj Kumar Gupta, Abhinav Sharma, Sandhya Gulati
PURPOSE: The purpose of this study was to determine the pattern of human leukocyte antigen (HLA)-DQ genotype in children diagnosed with celiac disease (CD) (biopsy proven), and to compare this with a control group; and secondarily, to correlate HLA genotypes with clinical profiles of CD. METHODS: This cross-sectional comparative observational study included 26 controls and 52 patients diagnosed with CD who presented at Sir Padampat Mother and Child Health Institute, Jaipur, from May, 2017 to October, 2018...
January 2023: Pediatric Gastroenterology, Hepatology & Nutrition
https://read.qxmd.com/read/36674702/meta-analysis-and-systematic-review-of-hla-dq2-dq8-in-adults-with-celiac-disease
#27
REVIEW
Sara Aboulaghras, Daniela Piancatelli, Khalid Taghzouti, Abdelaali Balahbib, Mohammed Merae Alshahrani, Ahmed Abdullah Al Awadh, Khang Wen Goh, Long Chiau Ming, Abdelhakim Bouyahya, Khadija Oumhani
Although people with human leukocyte antigens (HLA) DQ2 and/or DQ8 are more likely to develop celiac disease (CD), the condition cannot be fully explained by this genetic predisposition alone. Multiple, as yet unidentified, factors contribute to the genesis of CD, including genetics, the environment, and the immune system. In order to provide insight into a prospective possibility and an expanded screening technique, we aim to undertake a comprehensive and meta-analytical study of the assessment and distribution of HLA class II (HLA-DQ2/DQ8) in adult CD patients...
January 7, 2023: International Journal of Molecular Sciences
https://read.qxmd.com/read/36622793/ctla4-sh2b3-and-clec16a-diversely-affect-the-progression-of-early-islet-autoimmunity-in-relatives-of-type-1-diabetes-patients
#28
JOURNAL ARTICLE
Julie Vandewalle, Aster K Desouter, Bart J Van der Auwera, Sylvie Tenoutasse, Pieter Gillard, Christophe De Block, Bart Keymeulen, Frans K Gorus, Mark Van de Casteele
The HLA region is the major genetic risk determinant of type 1 diabetes. How non-HLA loci contribute to the genetic risk is incompletely understood, but there are indications that at least some impact progression of asymptomatic autoimmunity. We examined whether SNPs in 7 susceptibility loci (INS, SH2B3, PTPN2, PTPN22, CTLA4, CLEC16A and IL2RA) could improve prediction of the progression from single to multiple autoantibody positivity, and from there on to diagnosis. SNPs were genotyped in persistently autoantibody positive relatives by allelic discrimination qPCR and disease progression was studied by multivariate Cox regression analysis...
January 9, 2023: Clinical and Experimental Immunology
https://read.qxmd.com/read/36597078/extra-intestinal-manifestations-of-celiac-disease-in-children-their-prevalence-and-association-with-human-leukocyte-antigens-and-pathological-and-laboratory-evaluations
#29
JOURNAL ARTICLE
Leila Salarian, Mohammad Khavaran, Seyed Mohsen Dehghani, Amirali Mashhadiagha, Seyed Ali Moosavi, Shayan Rezaeianzadeh
BACKGROUND: Celiac disease (CD) is an autoimmune disease caused by gluten intake. Traditionally CD was believed to be a disease of the gut, although a wide range of extra-intestinal manifestations (EIM) was recognized. The exact prevalence of EIM and the associated risk factors have not been well studied. AIM: We aimed to assess the prevalence of EIM in children with CD and their association with human leukocyte antigen (HLA) typing, and pathological and laboratory indices...
January 4, 2023: BMC Pediatrics
https://read.qxmd.com/read/36343308/molecular-genetic-etiology-by-whole-exome-sequence-analysis-in-cases-with-familial-type-1-diabetes-mellitus-without-hla-haplotype-predisposition-or-incomplete-predisposition
#30
JOURNAL ARTICLE
Uğur Cem Yilmaz, Ferda Evin, Huseyin Onay, Samim Ozen, Sukran Darcan, Damla Goksen Simsek
OBJECTIVES: Familial transmission is observed in approximately 10% of cases with type 1 diabetes mellitus (T1DM). The most important gene determining susceptibility is the human leukocyte antigen complex (HLA) located on chromosome 6. More than 50 susceptible loci are associated with T1DM susceptibility have been identified in genes other than HLA. In this study, it was aimed to investigate the molecular genetic etiology by whole-exome sequence (WES) analysis in cases with familial T1DM with no or weakly detected HLA tissue type susceptibility...
November 7, 2022: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://read.qxmd.com/read/36298436/impact-of-hla-polymorphism-on-the-immune-response-to-bacillus-anthracis-protective-antigen-in-vaccination-versus-natural-infection
#31
JOURNAL ARTICLE
Stephanie Ascough, Rebecca J Ingram, Karen K Y Chu, Stephen J Moore, Theresa Gallagher, Hugh Dyson, Mehmet Doganay, Gökhan Metan, Yusuf Ozkul, Les Baillie, E Diane Williamson, John H Robinson, Bernard Maillere, Rosemary J Boyton, Daniel M Altmann
The causative agent of anthrax, Bacillus anthracis, evades the host immune response and establishes infection through the production of binary exotoxins composed of Protective Antigen (PA) and one of two subunits, lethal factor (LF) or edema factor (EF). The majority of vaccination strategies have focused upon the antibody response to the PA subunit. We have used a panel of humanised HLA class II transgenic mouse strains to define HLA-DR-restricted and HLA-DQ-restricted CD4+ T cell responses to the immunodominant epitopes of PA...
September 20, 2022: Vaccines
https://read.qxmd.com/read/36254687/celiac-disease-prevalence-and-predisposing-hla-in-a-cohort-of-93-williams-beuren-syndrome-patients
#32
JOURNAL ARTICLE
Ghisleni Cecilia, Parma Barbara, Cianci Paola, De Paoli Anita, Pangallo Elisabetta, Agovino Teresa, Cereda Anna, Bedeschi Maria Francesca, Villa Roberta, Fossati Chiara, Modena Piergiorgio, Giudici Carolina, Morando Carla, Memo Luigi, Onesimo Roberta, Zampino Giuseppe, Salvatore Silvia, Agosti Massimo, Selicorni Angelo
Williams-Beuren syndrome is considered to be at increased risk for celiac disease, as for recent literature data and celiac disease guidelines, despite pathogenic mechanisms are still unclear. Our study analyzed the prevalence of autoimmune disorders, HLA DQ2 and/or DQ8 haplotypes, of transglutaminase antibodies and of diagnosis of celiac disease in a cohort of 93 Williams-Beuren syndrome's patients (mean age 21.26 years). Our study showed an increased prevalence of celiac disease equal to 10.8% (10/93 patients)...
October 18, 2022: American Journal of Medical Genetics. Part A
https://read.qxmd.com/read/36096955/prevalence-of-haplotype-dq2-dq8-and-celiac-disease-in-children-with-type-1-diabetes
#33
JOURNAL ARTICLE
Agnieszka Zubkiewicz-Kucharska, Tatiana Jamer, Joanna Chrzanowska, Katarzyna Akutko, Tomasz Pytrus, Andrzej Stawarski, Anna Noczyńska
Type 1 diabetes (T1D) and celiac disease (CD) coexist very often. Identification of the human leukocyte antigen (HLA) DQ2/DQ8 can confirm the genetic predisposition to CD. Negative result of this test allows to exclude CD with a high probability. It was suggested that in individuals with higher risk of CD, including T1D patients, the implementation of genetic testing should reduce the number of patients requiring systematic immunological screening. The aim of this study was to analyze the prevalence of different haplotypes predisposing to CD in children and adolescents with previously diagnosed T1D...
September 12, 2022: Diabetology & Metabolic Syndrome
https://read.qxmd.com/read/35994521/a-mouse-model-of-celiac-disease
#34
JOURNAL ARTICLE
Valérie Abadie, Chaitan Khosla, Bana Jabri
The design and use of mouse models that reproduce key features of human diseases are critical to advance our understanding of the pathogenesis of autoimmune diseases and to test new therapeutic strategies. Celiac disease is a unique organ-specific autoimmune-like disorder occurring in genetically susceptible individuals carrying HLA-DQ2 or HLA-DQ8 molecules who consume gluten. The key histological characteristic of the disease in humans is the destruction of the lining of the small intestine, a feature that has been difficult to reproduce in immunocompetent animal models...
August 2022: Current protocols
https://read.qxmd.com/read/35929785/transamidated-wheat-gliadin-induces-differential-antigen-recognition-in-the-small-intestine-of-hla-dq8-transgenic-mice
#35
JOURNAL ARTICLE
Lucia Treppiccione, Francesco Maurano, Stefano Rossi, Diomira Luongo, Mauro Rossi
A lifelong gluten-free diet (GFD) is currently the only available therapy for coeliac disease (CD). However, GFD compliance is difficult and alternative strategies are envisaged in the near future. We previously found that wheat gliadin following transamidation by microbial transglutaminase (mTG) does not induce IFN-γ secretion by intestinal T cells from CD patients. Fully transamidated gliadin with lysine ethyl ester can be recovered in a soluble protein fraction (spf) generated by the enzymatic treatment of wheat flour...
August 5, 2022: Food & Function
https://read.qxmd.com/read/35770950/is-there-a-predictive-factor-for-autoimmune-glanduler-disease-association-in-children-diagnosed-with-celiac-disease
#36
JOURNAL ARTICLE
Fatma İlknur Varol, Emine Çamtosun, Mukadder Ayşe Selimoğlu, Şükrü Güngör
Objective: There is a close relationship between Celiac Disease (CD) and glandular autoimmunity. The aim of this study is to determine the predictive factors for AGD in children with CD. Methods: The study included 228 pediatric patients, who were diagnosed with CD between 2010 and 2019. The cases with AGD(Group-1) and those without AGD (Group-2) and the patients with Type1 diabetes mellitus(T1DM) (Group-A) and those without T1DM(Group-B) were retrospectively reviewed and compared in terms of clinical and laboratory features...
June 30, 2022: Journal of Clinical Research in Pediatric Endocrinology
https://read.qxmd.com/read/35767211/distribution-of-celiac-disease-predisposing-genes-hla-dq2-and-hla-dq8-in-the-native-population-of-southern-india
#37
JOURNAL ARTICLE
Anil K Verma, John Mechenro, Chiara Monachesi, Giriprasad Venugopal, Giulia Naspi Catassi, Elena Lionetti, Balakrishnan S Ramakrishna, Carlo Catassi
BACKGROUND: Celiac disease (CD) is an intestinal inflammatory condition caused by the ingestion of gluten peptides in wheat and related grains in individuals carrying HLA-DQ2 and/or HLA-DQ8 genes. In comparison to HLA-DQ8, a higher HLA-DQ2 prevalence is reported in European population where wheat has been the staple food for thousands of years. In non-European population, this pattern of HLA-DQ CD-predisposing gene distribution has not always been found. The aim of this study was to evaluate the HLA-DQ2 and HLA-DQ8 distribution in the native low-gluten consuming southern Indian population...
June 2022: Indian Journal of Gastroenterology: Official Journal of the Indian Society of Gastroenterology
https://read.qxmd.com/read/35694992/hla-genotyping-in-romanian-adult-patients-with-celiac-disease-their-first-degree-relatives-and-healthy-persons
#38
JOURNAL ARTICLE
Ion Maruntelu, Carmen Monica Preda, Irina Sandra, Doina Istratescu, Andreea Elena Chifulescu, Mircea Manuc, Mircea Diculescu, Adriana Talangescu, Letitia Tugui, Teodora Manuc, Tudor Stroie, Adriana Corina Andrei, Cristian Tieranu, Ileana Constantinescu
BACKGROUND AND AIMS: Celiac disease is characterized by an inappropriate T-cell-mediated response to gluten in small bowel in genetically predisposed individuals, carriers of the DQ2 and/or DQ8 haplotypes of the human leukocyte antigen. The aim of our study was to asses HLA typing in adult patients with celiac disease, in their first degree relatives and in a healthy control group. METHODS: We conducted a prospective observational study on three cohorts: 117 patients diagnosed with celiac disease, 41 first-degree relatives of celiac patients and 57 asymptomatic healthy volunteers...
June 12, 2022: Journal of Gastrointestinal and Liver Diseases: JGLD
https://read.qxmd.com/read/35669726/emerging-biomarkers-for-screening-and-management-of-celiac-disease
#39
REVIEW
Bilal Ahmad Mir, Tahir Majeed, Alka Singh, Mahendra Singh Rajput, Asheesh Kumar, Ashish Chauhan
Celiac disease (CeD) is a chronic, immune-mediated enteropathy that is precipitated by dietary gluten in genetically predisposed individuals expressing HLA-DQ2 and/or HLA-DQ8. In the current clinical practice, there are many serologic studies to aid in the diagnosis of CeD which include autoantibodies like IgA antitissue transglutaminase, antiendomysium, and antideamidated forms of gliadin peptide antibodies. Small intestinal biopsy has long been considered an essential step for the diagnosis of CeD. However, in the recent era, researchers have explored the possibility of CeD screening and diagnosis without endoscopy or biopsy...
2022: BioMed Research International
https://read.qxmd.com/read/35523683/role-of-hla-dqb1-alleles-in-the-risk-signs-and-symptoms-and-severity-of-celiac-disease-in-a-venezuelan-population
#40
JOURNAL ARTICLE
M Fernández-Mestre, D Padrón-Lowe, E Salazar-Alcalá, F Blanco-Pérez
INTRODUCTION AND AIMS: Celiac disease (CD) is a complex condition, whose main genetic determinant involves HLA molecules, specifically the HLA-DQ2 and/or HLA-DQ8 heterodimers. Nevertheless, the frequency of the alleles encoding those molecules has not been reported in Venezuelan celiac patients. Therefore, the aim of our study was to evaluate the frequency of the HLA-DQB1 alleles in individuals with symptoms suggestive of CD and define the diagnostic markers of the condition in a Venezuelan population...
May 3, 2022: Revista de Gastroenterología de México
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