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Christian R Kahrs, Katerina Chuda, German Tapia, Lars C Stene, Karl Mårild, Trond Rasmussen, Kjersti S Rønningen, Knut E A Lundin, Lenka Kramna, Ondrej Cinek, Ketil Størdal
OBJECTIVE: To determine whether infection with human enterovirus or adenovirus, both common intestinal viruses, predicts development of coeliac disease. DESIGN: Case-control study nested within Norwegian birth cohort recruited between 2001 and 2007 and followed to September 2016. SETTING: Norwegian population. PARTICIPANTS: Children carrying the HLA genotype DR4-DQ8/DR3-DQ2 conferring increased risk of coeliac disease...
February 13, 2019: BMJ: British Medical Journal
Carlo Alessandria, Gian P Caviglia, Daniela Campion, Federica Nalbone, Claudia Sanna, Alessandro Musso, Maria L Abate, Mario Rizzetto, Giorgio M Saracco, Federico Balzola
OBJECTIVES: A correlation between autism spectrum disorders (ASDs) and gastrointestinal (GI) problems, and a possible link between gluten consumption and ASD have been increasingly reported. Gluten/casein-free diet (GCFD) is often undertaken, with conflicting results. This study aimed at evaluating the distribution of human leukocyte antigen (HLA)-DQ2/DQ8 typing among patients with ASD with GI symptoms, together with its correlation with duodenal histology and response to GCFD. METHODS: Between 2002 and 2015 all patients with ASD with GI symptoms referred to our outpatient clinic, displaying clinical, laboratory, or ultrasound findings suggestive of organic disease, underwent endoscopy, celiac disease (CD) serum antibodies testing and HLA-DQ2/DQ8 genotyping...
February 7, 2019: Journal of Pediatric Gastroenterology and Nutrition
Stephen M Lagana, Govind Bhagat
Celiac disease is a common immune-mediated disorder that occurs in individuals with permissive genetics (HLA-DQ2/DQ8 genotype) following exposure to certain wheat proteins. The histopathologic manifestations of small intestinal mucosal injury (villus atrophy, crypt hyperplasia, and intraepithelial lymphocytosis) are well recognized. However, these findings are not specific for celiac disease, because they are observed in other small intestinal disorders. These mimics include common and rare entities, the list of which continues to grow...
March 2019: Gastroenterology Clinics of North America
A A Larina, E A Troshina, O N Ivanova
AIM: To consider association of chronic adrenal insufficiency in patients with APS of adults with polymorphism of class II HLA genes, -CTLA-4 and PTPN-22. MATERIALS AND METHODS: The case-control study involved 78 patients with APS 2, 3, 4 types and 109 healthy subjects). Alleles of the HLA class II genes, CTLA-4 and PTPN-22 were identified by the multiprimer allele-specific PCR method. The statistical analysis was carried out using the exact two-sided Fisher test...
November 22, 2018: Terapevticheskiĭ Arkhiv
Carlos Alberto Velasco-Benítez, Ángeles Ruíz-Extremera, Audrey Mary Matallana-Rhoades, Sandra Carolina Giraldo-Lora, Claudia Jimena Ortíz-Rivera
Introduction: Although the association between diabetes mellitus type 1 (T1DM) and celiac disease (CD) is well established; there are only a few studies that focus on South American children, haplotypes and their possible associations. Objective: To determine the prevalence of CD markers in a group of children with T1DM and to analyze the associated clinical, immunological and genetic manifestations. Methods: A prevalence study focusing on children with T1DM who were assessed based on variables including sociodemographics, anthropometric information, disease characteristics, laboratory results and family medical history...
December 30, 2018: Colombia Médica: CM
Anil K Verma, Alka Singh, Simona Gatti, Elena Lionetti, Tiziana Galeazzi, Chiara Monachesi, Elisa Franceschini, Vineet Ahuja, Carlo Catassi, Govind K Makharia
Background and Aim: Human leukocyte antigen (HLA)-DQ2 and/or -DQ8 is an essential risk factor for celiac disease (CD). About 90-95% of patients with CD carry HLA-DQ2/-DQ8 alleles, and HLA-DQ typing is considered an additional diagnostic test. Conventional polymerase chain reaction (PCR)-based HLA-DQ typing methods are expensive, complex, and a time-consuming process. We assessed the efficacy of a novel HLA-DQ typing method, "Celiac Gene Screen," for the detection of CD-associated HLA haplotypes...
December 2018: JGH open: an open access journal of gastroenterology and hepatology
L H C Lopes, J G Muniz, R P Oliveira, V L Sdepanian
First degree relatives (FDR) of 47 outpatients with celiac disease (CD) answered a questionnaire about symptoms related to CD and were investigated for human leukocyte antigen (HLA)-DQ2, DQB1*02 homozygosis and DQ8 alleles. Genetically susceptible individuals were tested for anti-transglutaminase antibody IgA. Seropositives FDR underwent small bowel biopsies.From 114 FDR, 74.5% (n = 85) were positive for DQ2, DQ8, or both haplotypes. Homozygosity of DQB1*02 was found in 11.4% (n = 13) individuals. Three FDR were previously diagnosed with CD...
December 27, 2018: Journal of Pediatric Gastroenterology and Nutrition
Martina Sciurti, Fabiola Fornaroli, Federica Gaiani, Chiara Bonaguri, Gioacchino Leandro, Francesco Di Mario, Gian Luigi De' Angelis
Celiac disease is a chronic immune-mediated enteropathy triggered by exposure to dietary gluten in genetically predisposed individuals. Many genes involved in the pathogenesis have been identified and a crucial role is known to be played by the Human Leukocyte Antigen (HLA) system. The main determinants for genetic susceptibility are HLA-DQA1 and HLA-DQB1 genes encoding for HLA-DQ2 and HLA-DQ8 molecules, carried by almost all patients affected. However, since HLA-DQ2 and HLA-DQ8 heterodimers explain almost 40% of the disease heritability, HLA typing should not be applied in diagnosis, but exclusively to clarify uncertain diagnoses, considering its negative predictive value...
December 17, 2018: Acta Bio-medica: Atenei Parmensis
Roberta Minelli, Federica Gaiani, Stefano Kayali, Francesco Di Mario, Fabiola Fornaroli, Gioacchino Leandro, Antonio Nouvenne, Francesca Vincenzi, Gian Luigi De' Angelis
Chronic autoimmune thyroid disease or Hashimoto thyroiditis (HT) and Graves-Basedow disease (GD) are the main autoimmune thyroid diseases in pediatric age. Both are characterized by the production of anti-thyroid antibodies, by an infiltration of autoreactive B and T lymphocytes into the thyroid parenchyma and by alterations in thyroid function (hyperthyroidism in GD, normal function or subclinical hypothyroidism in HT with possible evolution towards manifest hypothyroidism). Celiac disease (CD) is a systemic autoimmune disease caused by gluten ingestion in genetically predisposed subjects, its prevalence is around 1% in Western Countries...
December 17, 2018: Acta Bio-medica: Atenei Parmensis
Luca Elli, Francesca Ferretti, Stefania Orlando, Maurizio Vecchi, Erika Monguzzi, Leda Roncoroni, Detlef Schuppan
Celiac disease (CD) is the most common autoimmune enteropathy worldwide. In CD, dietary gluten triggers a T cell driven small intestinal inflammation in a subset of genetically predisposed subjects, expressing the HLA DQ2 and/or DQ8 genes on their antigen presenting cells. HLA DQ2/DQ8 can bind gluten peptides after their prior modification by the CD autoantigen, tissue transglutaminase (TG2). This process leads to the activation of gluten reactive T cells, small bowel villous atrophy, crypt hyperplasia and intraepithelial lymphocytosis, the histological hallmarks of CD...
December 5, 2018: European Journal of Internal Medicine
Yasemin Derya Gülseren, Ali Kudret Adiloğlu, Mihriban Yücel, Zuhal Dağ, Nilnur Eyerci, Rukiye Berkem, Levent Filik, Muzaffer Çaydere
BACKGROUND/AIMS: Today, invasive diagnostic tests are necessary for definite diagnosis of adult celiac disease (CD). However, in selected children patients, the need for invasive tests is ceased. In this study, we evaluated adult patients according to the ESPGHAN (European Pediatric Gastroenterology Hepatology and Nutrition Society) criteria. METHODS: Thirty-nine patients (aged 17-66) with symptoms of CD were included. Serum samples were tested for total IgA, tTG-IgA (antitissue transglutaminase), tTG-IgG, DGP-IgA (antideamidated gliadin peptide), DGP-IgG, and EMA (endomysial antibodies)...
November 21, 2018: Journal of Clinical Laboratory Analysis
Mara Cerqueiro Bybrant, Lena Grahnquist, Eva Örtqvist, Cecilia Andersson, Gun Forsander, Helena Elding Larsson, Åke Lernmark, Johnny Ludvigsson, Claude Marcus, Annelie Carlsson, Sten A Ivarsson
OBJECTIVES: This study explored the association between tissue transglutaminase autoantibody (tTGA), high-risk human leucocyte antigen (HLA) genotypes and islet autoantibodies in children with newly diagnosed type 1 diabetes (T1D). PATIENTS AND METHODS: Dried blood spots and serum samples were taken at diagnosis from children <18 years of age participating in Better Diabetes Diagnosis (BDD), a Swedish nationwide prospective cohort study of children newly diagnosed with T1D...
November 16, 2018: Autoimmunity
Ali Moheb-Alian, Flora Forouzesh, Amir Sadeghi, Kamran Rostami, Elham Aghamohammadi, Mohammad Rostami-Nejad, Mostafa Rezaei-Tavirani, Mohammad Reza Zali
BACKGROUND: Based on lack of data on the distribution of the related alleles in the T1D population in Iranian population, we assessed the frequency of HLA DQ2 and DQ8 haplotypes in patients with T1D with/without CD compared to healthy population. MATERIALS AND METHODS: 70 patients with T1D without celiac disease, 60 T1D cases with CD were compared to 150 healthy individuals during 2016. Ten mililiter Gheparinized blood samples were collected, genomic DNA was extracted and alleles were genotyped by Real-time PCR using SYBR Green as a low-resolution method...
October 25, 2018: Journal of Diabetes and its Complications
Elisabeth Binder, Tilmann Rohrer, Christian Denzer, Wolfgang Marg, Ute Ohlenschläger, Heike Schenk-Huber, Ulrike Schierloh, Heino Skopnik, Elke Elisabeth Fröhlich-Reiterer, Reinhard W Holl, Nicole Prinz
OBJECTIVES: To investigate the frequency of coeliac disease (CD)-specific human leucocyte antigen (HLA) genotypes in paediatric patients with type 1 diabetes (T1D), who are known to have a higher prevalence of CD than the general population, and to evaluate whether HLA genotyping is a suitable first-line screening method for CD. STUDY DESIGN: The study was a multicentre observational analysis of patients with T1D aged <20 years of whom a subgroup had undergone HLA genotyping...
October 16, 2018: Archives of Disease in Childhood
George J Kahaly, Lara Frommer, Detlef Schuppan
Celiac disease is a small intestinal inflammatory disease with autoimmune features that is triggered and maintained by the ingestion of the storage proteins (gluten) of wheat, barley and rye. The prevalence of celiac disease is increased in patients with monoglandular and/or polyglandular autoimmunity and their relatives. Between 10 and 30% of patients with celiac disease are thyroid and/or type 1 diabetes antibody positive, while around 5 to 7% of patients with autoimmune thyroid disease and/or type 1 diabetes are IgA anti-tissue transglutaminase antibody positive...
December 2018: Autoimmunity Reviews
Selva Kabul, Nesrin Uğraş, Ömer Yerci, Ersin Öztürk
Enteropathy-associated T cell lymphoma is a rare lymphoma specific to the gastrointestinal system, arising from intraepithelial T lymphocytes, that is often associated with celiac disease. We report a 53-year-old female patient with no previous disease who presented with severe abdominal pain. Physical examination revealed diffuse abdominal tenderness and abdominal guarding and the patient underwent emergency surgery with a diagnosis of acute abdomen. During the operation, a 20-cm mass was found located on Treitz ligament, invading the duodenum and pancreatic head and perforating the jejunum...
2018: Turkish Journal of Surgery
Michelle So, Colleen M Elso, Eleonora Tresoldi, Miha Pakusch, Vimukthi Pathiraja, John M Wentworth, Leonard C Harrison, Balasubramanian Krishnamurthy, Helen E Thomas, Christine Rodda, Fergus J Cameron, Jacinta McMahon, Thomas W H Kay, Stuart I Mannering
Type 1 diabetes (T1D) is an autoimmune disease in which insulin-producing beta cells, found within the islets of Langerhans in the pancreas, are destroyed by islet-infiltrating T cells. Identifying the antigenic targets of beta-cell reactive T cells is critical to gain insight into the pathogenesis of T1D and develop antigen-specific immunotherapies. Several lines of evidence indicate that insulin is an important target of T cells in T1D. Because many human islet-infiltrating CD4+ T cells recognize C-peptide-derived epitopes, we hypothesized that full-length C-peptide (PI33-63 ), the peptide excised from proinsulin as it is converted to insulin, is a target of CD4+ T cells in people with T1D...
October 16, 2018: Proceedings of the National Academy of Sciences of the United States of America
Amir-Babak Sioofy-Khojine, Sami Oikarinen, Hanna Honkanen, Heini Huhtala, Jussi P Lehtonen, Thomas Briese, Heikki Hyöty
BACKGROUND: Young children are susceptible to enterovirus (EV) infections, which cause significant morbidity in this age group. However, the current knowledge regarding the epidemiology of EVs and the circulating virus strains is mostly based on viruses detected in children with severe diseases leading to contact with the health care system, while the vast reservoir of EVs that circulate in the general population is less characterized. METHODOLOGY: The present study investigates the types and the prevalence of EVs circulating in the young children of the background population in Georgia, Colorado, and Washington State in the USA, and Germany, Sweden, and Finland in Europe...
2018: PloS One
I A Bavykina, A A Zvyagin, I V Petrova, T L Nastausheva
AIM: To study serological and genetic markers of gluten intolerance in children and teenagers with autism spectrum disorders (ASD) and Down's syndrome (DS). MATERIAL AND METHODS: Thirty-three children with ASD (group 1) and 8 with DS (group 2), aged from 2.5 to 15 years, were examined. There were 27 boys and 6 girls in group1, 5 boys and 3 girls in group 2. Most of the children were on a regular diet and only 4 children with ASD kept gluten-free diet (GFD). Using ELI method antibodies to gliadin IgG (AntiGliadin IgG), antibodies to deamidated peptides of gliadin IgA (AntiDGP IgA), immunoglobulin A (IgA) were identified...
2018: Zhurnal Nevrologii i Psikhiatrii Imeni S.S. Korsakova
Mauro Cozzolino, Caterina Serena, Antonino Salvatore Calabró, Elena Savi, Marianna Pina Rambaldi, Serena Simeone, Serena Ottanelli, Giorgio Mello, Giovanni Rombolá, Gianmarco Troiano, Nicola Nante, Silvia Vannuccini, Federico Mecacci, Felice Petraglia
PROBLEM: The aim of this study was to investigate the prevalence of human leukocyte antigens (HLA) DQ2 and DQ8 haplotypes, two common polymorphisms associate with celiac disease (CD), in women with previous stillbirth, but not affected by CD. METHOD OF STUDY: Women with history of unexplained term stillbirth referred to our Center for High-Risk Pregnancies for a preconception counseling, and women with previous uncomplicated pregnancies, were enrolled as cases and controls...
November 2018: American Journal of Reproductive Immunology: AJRI
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