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Aging (Albany NY) 2019 Apr;11(7):2003-2019

European Institute for Research in Cystic Fibrosis, San Raffaele Scientific Institute, Milan 20132, Italy.

In celiac disease (CD), an intolerance to dietary gluten/gliadin, antigenic gliadin peptides trigger an HLA-DQ2/DQ8-restricted adaptive Th1 immune response. Epithelial stress, induced by other non-antigenic gliadin peptides, is required for gliadin to become fully immunogenic. We found that cystic-fibrosis-transmembrane-conductance-regulator (CFTR) acts as membrane receptor for gliadin-derived peptide P31-43, as it binds to CFTR and impairs its channel function. Read More

Gastroenterology 2019 Apr 9. Epub 2019 Apr 9.

Department of Translation Medical Science, Section of Pediatric, and European Laboratory for the Investigation of Food Induced Disease (ELFID), University Federico II, Naples, Italy.

Background & Aims: Potential celiac disease is characterized by positive results from serologic tests for tissue transglutaminase antibodies (anti-TG2) but normal duodenal architecture (Marsh stages 0-1). There is controversy over the best way to manage these patients. We investigated risk factors associated with the development of villous atrophy in children with potential celiac disease. Read More

Turk J Gastroenterol 2019 Apr;30(4):321-325

Department of Gastroenterology, Eskişehir Osmangazi University, Eskişehir, Turkey.

Background/aims: Celiac disease is an autoimmune, familial disease that results in susceptibility to gluten in cereal and cereal products in genetically susceptible individuals. The aim of the present study was to investigate the presence of HLA-DQ2/DQ8 in patients with celiac disease, their first-degree relatives, and healthy community.

Materials And Methods: HLA-DQ2/DQ8 analysis was performed in adult patients with celiac disease >18 years old (94 patients), their first-degree relatives (89 people), and healthy group (102 individuals). Read More

Ital J Pediatr 2019 Mar 21;45(1):40. Epub 2019 Mar 21.

Equipe11 labellisée Ligue Nationale contrele Cancer, Centre de Recherche des Cordeliers, Paris, France.

Familial loss-of-function mutations of the gene coding for the cystic fibrosis transmembrane conductance regulator (CFTR) channel protein cause cystic fibrosis (CF), the most frequent inherited life-threatening disease in the Caucasian population. A recent study indicates that the gluten/gliadin-derived peptide (P31-43) can cause CFTR inhibition in intestinal epithelial cells, thus causing a local stress response that contributes to the immunopathology of celiac disease (CD). Accordingly, an increased prevalence of CD has been observed in several cohorts of CF patients. Read More

World J Diabetes 2019 Mar;10(3):189-199

Mucosal Immunology and Biology Research Center, Mass General Hospital for Children, Boston, MA 02115, United States.

Background: Patients with type 1 diabetes (T1D) and their first-degree relatives (FDRs) have an increased risk of developing celiac disease (CD) compared to the general population. This is largely explained by the shared association with major histocompatibility class II human leukocyte antigen (HLA) DQ2 and/or DQ8 between the two disease states.

Aim: To describe the frequency of CD autoimmunity (CDA) and the distribution of HLA and haptoglobin genotypes in patients with T1D and their FDRs. Read More

Eur J Dermatol 2019 03 11. Epub 2019 Mar 11.

Department of Biomedical, Surgical and Dental Sciences, Università degli Studi di Milano,, Center for Prevention and Diagnosis of Celiac Disease, Gastroenterology and Endoscopy Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico,, Department of Pathophysiology and Transplantation, Università degli Studi di Milano, 20122 Milan, Italy.

Dermatitis herpetiformis (DH) and celiac disease (CD) are considered to be autoimmune diseases that share a specific trigger (gluten) and a common genetic background (HLA-DQ2/DQ8). However, the pathogenesis of DH is not yet fully understood and no data are available regarding a possible role of fibroblasts in this disease. The aim of this study was to assess baseline DNA damage in fibroblasts in DH-diagnosed patients vs. Read More

J Pediatr Gastroenterol Nutr 2019 Feb 7. Epub 2019 Feb 7.

Division of Gastroenterology and Hepatology, Città Della Salute e Della Scienza di Torino Hospital.

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. Read More

Gastroenterol Clin North Am 2019 03 14;48(1):39-51. Epub 2018 Dec 14.

Columbia University, New York Presbyterian Hospital, 622 West 168th Street, VC14-228, New York, NY 10032, USA.

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. Read More

Colomb Med (Cali) 2018 Dec 30;49(4):273-279. Epub 2018 Dec 30.

Universidad del Valle, Escuela de Medicina , Departamento de Pediatría. Cali, Colombia.

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. Read More

JGH Open 2018 Dec 1;2(6):311-316. Epub 2018 Nov 1.

Department of Gastroenterology and Human Nutrition All India Institute of Medical Sciences New Delhi India.

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. Read More

J Pediatr Gastroenterol Nutr 2018 Dec 27. Epub 2018 Dec 27.

Division of Pediatric Gastroenterology of Pediatric Department of Escola Paulista de Medicina - Universidade Federal de São Paulo.

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. Read More

Rev Gastroenterol Mex 2019 Jan - Mar;84(1):124-125. Epub 2018 Dec 24.

Departamento de Gastroenterología, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Ciudad de México, México. Electronic address:

Gastroenterology 2019 03 19;156(4):885-889. Epub 2018 Dec 19.

Division of Gastroenterology and Hepatology, Mayo Clinic, Rochester, Minnesota.

Purpose: The purpose of this clinical practice update is to define key modalities in the diagnosis and monitoring of celiac disease (CD) in adults as well as in children and adolescents.

Methods: The recommendations outlined in this expert review are based on available published evidence, including cohort and case-control studies of the diagnostic process as well as controlled and descriptive studies of disease management. Best Practice Advice 1: Serology is a crucial component of the detection and diagnosis of CD, particularly tissue transglutaminase-immunoglobulin A (TG2-IgA), IgA testing, and less frequently, endomysial IgA testing. Read More

Acta Biomed 2018 Dec 17;89(9-S):17-21. Epub 2018 Dec 17.

Gastroenterology and Endoscopy Unit, Department of Medicine and Surgery, University of Parma, Parma, Italy.

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. Read More

Acta Biomed 2018 Dec 17;89(9-S):11-16. Epub 2018 Dec 17.

Gastroenterology and Endoscopy Unit, Department of Medicine and Surgery, University of Parma, Parma, Italy.

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. Read More

Eur J Intern Med 2019 03 5;61:15-24. Epub 2018 Dec 5.

Institute for Translational Immunology, Research Center for Immunotherapy (FZI), Johannes Gutenberg University (JGU) Medical Center, 55101 Mainz, Germany; Division of Gastroenterology, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, MA 02215, USA.

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). Read More

Autoimmunity 2018 Aug 16;51(5):221-227. Epub 2018 Nov 16.

d Department of clinical sciences , Lund University, Skåne University hospital , Malmö , Sweden.

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. We analyzed tTGA, high-risk HLA DQ2 and DQ8 (DQX is neither DQ2 nor DQ8) and islet auto-antibodies (GADA, IA-2A, IAA, and three variants of Zinc transporter; ZnT8W, ZnT8R, and ZnT8QA). Read More

Clin Lab Med 2018 12 5;38(4):655-668. Epub 2018 Oct 5.

Department of Laboratory Medicine and Pathology, Mayo Clinic, 200 First Street Southwest, Rochester, MN 55905, USA.

Celiac disease is an autoimmune disease affecting the small intestine, triggered by gluten sensitization in genetically susceptible individuals worldwide. Celiac disease development is strongly linked to the presence of HLA-DQ2 and/or DQ8, which present the immunogenic gluten peptides and trigger the immune response leading to pathogenesis. Because of the variability of clinical symptoms, the disease is often underdiagnosed. Read More

J Diabetes Complications 2019 Jan 25;33(1):59-62. Epub 2018 Oct 25.

Gastroenterology and Liver Diseases Research Center, Research Institute for Gastroenterology and Liver Diseases, Shahid Beheshti University of Medical Sciences, Tehran, Iran.

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. Read More

Arch Dis Child 2019 Apr 16;104(4):354-359. Epub 2018 Oct 16.

Institute of Epidemiology and Medical Biometry, Zentralinstitut für Biomedizinische Technik, University of Ulm, Ulm, Germany.

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. Patient data were retrieved from the Diabetes Prospective Follow-up database, a large diabetes follow-up registry. Read More

Turk J Surg 2018 3;34(3):253-255. Epub 2018 Jan 3.

Department of General Surgery, Uludağ University School of Medicine, Bursa, Turkey.

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. Read More

Zh Nevrol Psikhiatr Im S S Korsakova 2018;118(5. Vyp. 2):64-68

Burdenko Voronezh State Medical University, Voronezh, Russia.

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. Read More

Am J Reprod Immunol 2018 Nov 19;80(5):e13038. Epub 2018 Aug 19.

Division of Obstetrics and Gynecology, Department of Biomedical, Experimental and Clinical Sciences, Careggi University Hospital, University of Florence, Florence, Italy.

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. Celiac women were excluded from the study. Read More

Rev Gastroenterol Mex 2019 Jan - Mar;84(1):123-124. Epub 2018 Aug 14.

Coordinación de Nutrición, Centro de Investigación en Alimentación y Desarrollo, A.C., Hermosillo, Sonora, México. Electronic address:

United European Gastroenterol J 2018 Jul 8;6(6):866-878. Epub 2018 Mar 8.

Center for Clinical Research and Prevention, Bispebjerg and Frederiksberg Hospital, Capital Region, Copenhagen, Denmark.

Background: Human leukocyte antigen (HLA) DQ2 and DQ8 are important risk factors for some autoimmune diseases such as celiac disease (CD), but their possible role in other diseases and health conditions is not fully explored.

Objectives: The objective of this article is to examine the distribution of HLA DQ2 and HLA DQ8 in an adult general population, and their association with health indicators (diseases, symptoms and biomarkers).

Methods: In this cross-sectional, population-based study, 2293 individuals were screened for HLA DQ2 and DQ8; CD-associated alleles (DQA*0201*03*05/DQB*02*0301/0304*0302/0305) and DQB1*02 homozygosity were determined for screen-positive participants. Read More

Minerva Pediatr 2019 Feb 18;71(1):39-46. Epub 2018 Jul 18.

Unit of Pediatric, Ca' Foncello Hospital, Treviso, Italy.

Celiac disease is a common immune-mediated disease, that may present, after gluten ingestion, with various and heterogeneous symptoms that can vary according to patients' age. The diagnostic screening test is serum anti-tissue transglutaminase IgA level. In doubt cases, antiendomysium IgA and the antideamidated gliadin peptides IgG could be useful to confirm the suspicion, before a biopsy will be perform. Read More

Mol Genet Genomic Med 2018 09 16;6(5):779-784. Epub 2018 Jul 16.

Research Center for Celiac Disease, School of Medicine, University of Brasilia, Brasilia, DF, Brazil.

Background: The frequency of HLA-DQ2 and DQ8 predisposing genotypes for celiac disease (CD) has shown significant variation among different world regions and has not been previously determined among the highly interbred Brazilian population. The aim of this study was to investigate the frequency of these genotypes among Brazilian newborns (NB).

Methods: We typed DQA1*05 - DQB1*02 (DQ2. Read More

Gastroenterol Hepatol Bed Bench 2018 ;11(3):250-258

Department of Celiac Disease, Gastroenterology and Liver Diseases Research Center, Research Institute for Gastroenterology and Liver Diseases, Shahid Beheshti University of Medical Sciences, Tehran, Iran.

Aim: To perform a simple, rapid and sensitive Real-time PCR based SYBR Green method to determine the human leukocyte antigen (HLA)-DQ 2/8 alleles in celiac disease (CD) patients.

Background: Many molecular techniques are available to determine the HLA-DQ2 and DQ8 alleles, but they are too expensive and have many steps that make them difficult to use.

Methods: To determine the HLA-DQ 2/8 alleles we have developed a new real-time PCR assay, using SYBR Green technique with melting curve analysis on genomic DNA isolated from 75 CD patients and 94 healthy controls. Read More

Eur J Pediatr 2018 Nov 4;177(11):1585-1592. Epub 2018 Jul 4.

Department of Pediatrics, Leiden University Medical Center (LUMC) Leiden, Leiden, The Netherlands.

Celiac disease (CD) is known to be more prevalent in first-degree relatives of patients. In this retrospective cohort study of 609 relatives between 1994 and 2016, we investigated the effect of sex, HLA type, and age at time of index celiac diagnosis. Pearson's chi-square test and Kaplan-Meier survival analysis were used as statistical analyses. Read More

Saudi J Gastroenterol 2018 Sep-Oct;24(5):268-273

Department of Immunology, University of Mohammed VI for health sciences, Casablanca, Morocco.

Background/aim: To determine the frequency of celiac disease (CD)-predisposing human leukocyte antigen (HLA)-DQ genotypes in the Saudi population, where the prevalence of CD is 1.5% as recently reported in a mass screening study.

Patients And Methods: In a cross-sectional population-based study, a total of 192 randomly selected healthy school children (97 females, mean age 10. Read More

Methods Mol Biol 2018 ;1802:11-29

Acura Rheumatology Center Rhineland Palatine, Bad Kreuznach, Germany.

The aim of this review is to provide a brief overview of the role and current clinical relevance of HLA-B27 in spondyloarthritis and HLA-B51 in Behcet's disease as well as HLA-DQ2/DQ8 in celiac disease and HLA-DRB1 in rheumatoid arthritis and to discuss possible future implications. Read More

BMC Gastroenterol 2018 May 24;18(1):70. Epub 2018 May 24.

Children's hospital, Damascus, Syria.

Background: Celiac disease (CD) is a common autoimmune disease in Syria which manifesting with inflammation of the small intestine and with various extra intestinal symptoms. The disease is associated with human HLA-DQ genes encoding HLA-DQ2 and DQ8 proteins.

Methods: In this study, 49 children patients of CD and 58 healthy control samples were genotyped for HLA-DQ genes using SSP-PCR technique. Read More

BMC Gastroenterol 2018 May 18;18(1):66. Epub 2018 May 18.

Celiac Disease Department, Gastroenterology and Liver Diseases Research Center, Research Institute for Gastroenterology and Liver Diseases, Shahid Beheshti University of Medical Sciences, Tehran, Iran.

Background: It is not clear why some patients with coeliac disease (CD) present with severe symptoms and small intestinal mucosal damages while others present with milder symptoms and no frank enteropathy. There is no study to assess the associated factors with mild/severe symptoms and enteropathy. The terminologies like latent, silent and potential are difficult to use and are unrepresentative. Read More

J Clin Pathol 2018 Oct 15;71(10):900-905. Epub 2018 May 15.

RCPAQAP Molecular Genetics, St. Leonard's, Sydney, New South Wales, Australia.

Aim: Coeliac disease(CD) is a highly prevalent, gluten-dependent, autoimmune enteropathy. While the diagnosis is based on serological and histological criteria, genotyping of the human leucocyte antigens (HLA) DQ2 and DQ8 has been shown to have substantial clinical utility, especially in excluding the diagnosis in patients who do not carry either antigen. As a result, HLA genotyping is now being performed by more laboratories and has recently become one of the most frequently requested genetic tests in Australia. Read More

Rev Gastroenterol Mex 2018 Oct - Dec;83(4):410-413. Epub 2018 May 9.

Departamento de Gastroenterología, Instituto Nacional de Ciencias Médicas y Nutrición «Salvador Zubirán», Ciudad de México, México; Departamento de Trasplantes, Instituto Nacional de Ciencias Médicas y Nutrición «Salvador Zubirán», Ciudad de México, México; Departamento de Inmunología, Instituto Nacional de Ciencias Médicas y Nutrición «Salvador Zubirán», Ciudad de México, México. Electronic address:

Introduction And Aims: A strong genetic association between celiac disease (CD) and the human leukocyte antigen (HLA) has been widely demonstrated. In Europe, the HLA-DQ2 allele is predominant. However, studies in Latin America indicate that HLA-DQ8 could be more frequent. Read More

Int J Dermatol 2018 Aug 11;57(8):959-964. Epub 2018 May 11.

Department of Histopathology, PGIMER, Chandigarh, India.

Background: Indian data on dermatitis herpetiformis (DH) is not available. The aim of this study was to investigate the demographic and clinicopathological characteristics of patients with DH and to study its association with other autoimmune diseases.

Methods: All data were collected from case record forms of patients registered in immunobullous disease clinic of our institute. Read More

Nutrients 2018 Apr 28;10(5). Epub 2018 Apr 28.

The Diabetes and Celiac Disease Unit, Department of Clinical Sciences, Lund University, 202 05 Malmö, Sweden.

Milk powder and gluten are common components in Swedish infants' diets. Whereas large intakes of gluten early in life increases the risk of celiac disease in genetically at-risk Swedish children, no study has yet evaluated if intake of milk powder by 2 years of age is associated with celiac disease. A 1-to-3 nested case-control study, comprised of 207 celiac disease children and 621 controls matched for sex, birth year, and HLA genotype, was performed on a birth cohort of HLA-DR3-DQ2 and/or DR4-DQ8-positive children. Read More

Rev Esp Enferm Dig 2018 07;110(7):421-426

Laboratorio de Genética d Enfermedades Autoinmunes, Hospital Clínico San Carlos, España.

Aims: celiac disease is a multisystem immune-mediated disease triggered by gluten in genetically susceptible individuals. The HLA-DQ2 and/or HLA-DQ8 heterodimers are encoded by the main genetic predisposing factors and their presence is required for the development of the immunological response that leads to the disease. However, the HLA-conferred risk can differ within different countries. Read More

Rev Esp Enferm Dig 2018 08;110(8):493-499

Gastroenterología y Hepatología Pediátrica,, Hospital Universitario y Politécnico La Fe,.

Aim: to evaluate the influence of gluten consumption on celiac disease development and to describe its natural history in the Spanish cohort of the European PreventCD study.

Methods: prospective multi-center double blind study of 225 children that were followed up from birth. All cases were HLA-DQ2/HLA-DQ8 positive with a 1st degree relative with celiac disease and were followed up in three centers from Madrid, Reus and Valencia. Read More

Arq Gastroenterol 2018 Jan-Mar;55(1):82-85

Laboratório Interdisciplinar de Biociências, Laboratório de Pesquisa em Doença Celíaca, Faculdade de Medicina, Universidade de Brasília, Brasília, DF, Brasil.

Background: Celiac disease is an autoimmune enteropathy triggered by the ingestion of gluten in genetically susceptible individuals. Almost all celiac patients carry immune recognition genes coding for HLA-DQ2.5 and DQ8 heterodimers. Read More

An Pediatr (Barc) 2018 Nov 16;89(5):279-285. Epub 2018 Mar 16.

Unidad de Gastroenterología Pediátrica, Hospital Universitari i Politécnic La Fe, Valencia, España; Unidad de Enfermedad Celíaca e Inmunopatología Digestiva, Instituto de Investigación Sanitaria La Fe, Valencia, España.

Introduction: Anti-tissue transglutaminase antibodies (tTG) have high specificity for coeliac disease (CD). However, positive anti-tTG antibodies have been described in non-coeliac patients. Aim To assess positive anti-tTG antibodies not related to gluten intake. Read More

Rheumatol Ther 2018 Jun 7;5(1):5-20. Epub 2018 Mar 7.

Division of Rheumatology and Clinical Immunology, University Hospital, Mainz, Germany.

Since the discovery of HLA 60 years ago, it has contributed to the understanding of the immune system as well as of the pathogenesis of several diseases. Aside from its essential role in determining donor-recipient immune compatibility in organ transplantation, HLA genotyping is meanwhile performed routinely as part of the diagnostic work-up of certain autoimmune diseases. Considering the ability of HLA to influence thymic selection as well as peripheral anergy of T cells, its role in the pathogenesis of autoimmunity is understandable. Read More

Recenti Prog Med 2018 Feb;109(2):124-126

Servizio di Epidemiologia Clinica e Biometria, Direzione Scientifica, Fondazione IRCCS Policlinico San Matteo, Pavia.

HLA typing requests for association studies of immune-mediated diseases are often redundant and inadequate. We designed a series of meta-analyses to evaluate the accuracy of typing and distribution of HLA alleles predisposing to diseases, aiming at developing an app that can help doctors in choosing the most suitable molecular analysis. The first study was on celiac disease (CD) and HLA-DQ in children. Read More

Clin Immunol 2018 May 24;190:15-21. Epub 2018 Feb 24.

Department of Pediatrics, Universitätsklinikum Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany; Department of Women's & Children's Health, Institute of Translational Medicine, University of Liverpool, Liverpool, UK; Department of Paediatric Rheumatology, Alder Hey Children's NHS Foundation Trust Hospital, Liverpool, UK. Electronic address:

Celiac disease (CD) is an autoimmune/inflammatory condition triggered by dietary gluten intake in genetically predisposed individuals. Though associations with MHC class II HLA-DQ2 or -DQ8 are the primary and necessary genetic predisposition for CD, >97% of genetically predisposed individuals never develop CD. Cytokines were measured in the serum of CD patients and controls. Read More

J Mol Diagn 2018 May 17;20(3):307-315. Epub 2018 Feb 17.

Department of Medicine, University of Melbourne, Melbourne, Victoria, Australia; Department of Electrical and Electronic Engineering, University of Melbourne, Melbourne, Victoria, Australia; Department of Neurology, The Royal Melbourne Hospital, Melbourne, Victoria, Australia. Electronic address:

Human leukocyte antigen (HLA) genotyping has become a useful investigation in the diagnostic work-up of celiac disease (CD), with utility in risk stratification and screening. However, broad application of this technology has been hindered by the cost and time burden of conventional laboratory-based assays. We have developed and validated CD-loop-mediated isothermal amplification (CD-LAMP), a LAMP assay, which enables rapid identification of the signature CD risk genotypes, HLA-DQ2. Read More

BMJ Open 2018 02 14;8(2):e018803. Epub 2018 Feb 14.

Interdisciplinary Laboratory of Biosciences and Celiac Disease Research Center, School of Medicine, University of Brasilia, Brasilia, Brazil.

Background: Kawasaki disease (KD) is a self-limited acute systemic vasculitis of unknown aetiology that predominantly affects infants and young children eventually associated with immunological abnormalities. Coeliac disease (CD) is an inflammatory autoimmune disease characterised by a permanent gluten intolerance, which affects genetically susceptible individuals of any age group, and can cause intestinal and systemic symptoms. Association of CD with KD has been previously described in a single study that disclosed a surprisingly high prevalence of CD in children with a history of KD. Read More

Int Rev Cell Mol Biol 2018 18;336:149-174. Epub 2017 Sep 18.

University of the Basque Country (UPV/EHU), BioCruces Health Research Institute, Leioa, Basque Country, Spain. Electronic address:

Celiac disease (CD) is a chronic, autoimmune disease of the small intestine with a strong but complex genetic component. The disease is triggered by the consumption of dietary gluten through the presentation of immunogenic gliadin peptides to T helper lymphocytes by HLA-DQ2 and DQ8 heterodimers, which are the major contributors to the genetic risk. Recent large-scale genotyping efforts have identified a large number of additional association signals, but the functional role of the underlying genes in the pathogenesis of the disease is still unclear. Read More

APMIS 2018 Mar 31;126(3):186-190. Epub 2018 Jan 31.

Laboratory of Translational Immunology, University Medical Center Utrecht, Utrecht, The Netherlands.

Current diagnostic guidelines for celiac disease (CD) in pediatric patients require a duodenal biopsy if the IgA anti-tissue transglutaminase (tTG) is below 10x the upper limit of normal (ULN). Additional markers may enable a noninvasive diagnosis in this group. Serum intestinal-fatty acid-binding protein (I-FABP), a marker for intestinal epithelial damage, could be useful in this respect. Read More

APMIS 2018 Mar 26;126(3):208-214. Epub 2018 Jan 26.

Leiden University Medical Center, Leiden, The Netherlands.

Aim of the current study was to evaluate the inter-observer agreement between pathologists in the diagnosis of celiac disease (CD), in the qualified context of a multicenter study. Biopsies from the "PreventCD" study, a multinational- prospective- randomized study in children with at least one-first-degree relative with CD and positive for HLA-DQ2/HLA-DQ8. Ninety-eight biopsies were evaluated. Read More

HLA 2018 04 26;91(4):280-288. Epub 2018 Feb 26.

Immunology Division, The Walter and Eliza Hall Institute of Medical Research, Melbourne, Australia.

A hallmark of coeliac disease (CD) is the exceptionally strong genetic association with HLA-DQ2.5, DQ8, and DQ2.2. Read More