610 results match your criteria Celiac Disease and HLA-DQ2 DQ8

Distribution of celiac disease predisposing genes HLA-DQ2 and HLA-DQ8 in the native population of southern India.

Indian J Gastroenterol 2022 Jun 29. Epub 2022 Jun 29.

Department of Pediatrics, Università Politecnica delle Marche, 60123, Ancona, Italy.

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. Read More

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HLA Genotyping in Romanian Adult Patients with Celiac Disease, their First-degree Relatives and Healthy Persons.

J Gastrointestin Liver Dis 2022 Jun 12;31(2):191-197. Epub 2022 Jun 12.

Carol Davila University of Medicine and Pharmacy, Centre of Immunogenetics and Virology, Clinical Fundeni Institute, Bucharest, Romania.

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. Read More

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Emerging Biomarkers for Screening and Management of Celiac Disease.

Biomed Res Int 2022 28;2022:2756242. Epub 2022 May 28.

Indira Gandhi Medical College, Shimla, India.

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. Read More

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Coeliac disease re-screening among once seronegative at-risk relatives: A long-term follow-up study.

United European Gastroenterol J 2022 May 25. Epub 2022 May 25.

Celiac Disease Research Center, Faculty of Medicine and Health Technology, Tampere University, Tampere, Finland.

Background: Serological screening of the relatives of coeliac disease patients is widely endorsed. However, the need for and the optimal timing of possible re-testing of once seronegative at-risk individuals for coeliac disease remain unclear.

Objective: We investigated this issue by inviting a large cohort of previously screening-negative relatives of patients with coeliac disease to participate in a follow-up study. Read More

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NLRX1 Deficiency Alters the Gut Microbiome and Is Further Exacerbated by Adherence to a Gluten-Free Diet.

Front Immunol 2022 28;13:882521. Epub 2022 Apr 28.

Department of Biomedical Sciences and Pathobiology, Virginia-Maryland College of Veterinary Medicine, Virginia Tech, Blacksburg, VA, United States.

Patients with gluten sensitivities present with dysbiosis of the gut microbiome that is further exacerbated by a strict adherence to a gluten-free diet (GFD). A subtype of patients genetically susceptible to gluten sensitivities are Celiac Disease (CeD) patients, who are carriers of the HLA DR3/DQ2 or HLA DR4/DQ8 haplotypes. Although 85-95% of all CeD patients carry HLA DQ2, up to 25-50% of the world population carry this haplotype with only a minority developing CeD. Read More

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Role of HLA-DQB1 alleles in the risk, signs and symptoms, and severity of celiac disease in a Venezuelan population.

Rev Gastroenterol Mex (Engl Ed) 2022 May 3. Epub 2022 May 3.

Laboratorio de Fisiopatología, Centro de Medicina Experimental "Miguel Layrisse", Instituto Venezolano de Investigaciones Científicas, Caracas, Venezuela.

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. Read More

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Seronegative Celiac Disease in Patients with Isolated Refractory Dyspepsia and Gastroesophageal Reflux Disease.

Gut Liver 2022 05;16(3):375-383

Department of Gastroenterology, Internal Medicine, Cukurova University, Adana, Turkey.

Background/aims: To investigate the presence of seronegative celiac disease in patients with isolated refractory dyspepsia and gastroesophageal reflux disease (GERD)-related complaints.

Methods: This was a single-center, prospective study performed at a tertiary care referral hospital. Among 968 consecutive patients, 129 seronegative patients with tissue damage consistent with Marsh IIIa classification or above were included. Read More

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Combination of HLA-DQ2/-DQ8 Haplotypes and a Single MSH5 Gene Variant in a Polish Population of Patients with Type 1 Diabetes as a First Line Screening for Celiac Disease?

J Clin Med 2022 Apr 15;11(8). Epub 2022 Apr 15.

Department of Pathomorphology of the Children's Memorial Health Institute, Aleja Dzieci Polskich 20, 04-730 Warsaw, Poland.

Patients with type 1 diabetes (T1D) are at increased risk for developing celiac disease (CD). The aim of the study was to assess the usefulness of celiac-specific human leukocyte antigen (HLA) haplotype and the rs3130484 variant of MSH5 gene, a previously described non-HLA variant associated with CD in the Polish population as a first-line screening for CD in T1D pediatric patients. Serological CD screening performed in the T1D group ( = 248) and healthy controls ( = 551) allowed for CD recognition in 20 patients (8. Read More

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Possible relationship between refractory celiac disease and malignancies.

Kaan Demiroren

World J Clin Oncol 2022 Mar;13(3):200-208

Department of Pediatric Gastroenterology, University of Health Sciences, Yuksek Ihtisas Teaching Hospital, Bursa 16000, Turkey.

Celiac disease (CeD) is a chronic autoimmune disorder that is triggered by gluten in genetically susceptible individuals, and that is characterized by CeD-specific antibodies, HLA-DQ2 and/or HLA-DQ8 haplotypes, enteropathy and different clinical pictures related to many organs. Intestinal lymphoma may develop as a result of refractory CeD. If a patient diagnosed with CeD is symptomatic despite a strict gluten-free diet for at least 12 months, and does not improve with severe villous atrophy, refractory CeD can be considered present. Read More

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HLA DQ2/DQ8 haplotypes and anti-transglutaminase antibodies as celiac disease markers in a pediatric population with type 1 diabetes mellitus.

Arch Endocrinol Metab 2022 Apr 11;66(2):229-236. Epub 2022 Apr 11.

Unidade de Endocrinologia e Diabetologia Pediátrica, Departamento de Pediatria, Hospital de Braga, Braga, Portugal.

Objective: Evaluate the celiac disease (CD) markers, within the scope of its screening, in a pediatric population with diagnosis of type 1 diabetes (T1D) at Hospital de Braga (HB) and determine the prevalence of CD in the sample. Reflect on CD screening algorithm applied in this pediatric population.

Methods: Retrospective observational study with 94 patients diagnosed with T1D at age 10 years or younger, followed up at the HB Outpatient Diabetology Consultation, including those referred from other hospitals. Read More

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Structural bases of T cell antigen receptor recognition in celiac disease.

Curr Opin Struct Biol 2022 Jun 7;74:102349. Epub 2022 Mar 7.

Infection and Immunity Program and Department of Biochemistry and Molecular Biology, Biomedicine Discovery Institute, Monash University, Clayton, Victoria, 3800, Australia; Institute of Infection and Immunity, School of Medicine, Cardiff University, Cardiff, CF14 4XN, United Kingdom. Electronic address:

Celiac disease (CeD) is a human leukocyte antigen (HLA)-linked autoimmune-like disorder that is triggered by the ingestion of gluten or related storage proteins. The majority of CeD patients are HLA-DQ2.5, with the remainder being either HLA-DQ8 or HLA-DQ2. Read More

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Coeliac disease in the COVID-19 pandemic: does HLA have a protective effect?

Ann Med 2022 12;54(1):617-621

Department of Translational and Precision Medicine, Sapienza University of Rome, Rome, Italy.

Background: The coronavirus disease 2019 (COVID-19), an acute respiratory disease caused by a novel coronavirus (SARS-CoV-2), is emerging as a worldwide public health emergency. Several scientific contributions reported the potential relevance of human leukocyte antigen (HLA) polymorphism and susceptibility to viruses, such as SARS-CoV. In our study, we examined a population of coeliac subjects presenting the HLA haplotype DQ2 and/or DQ8. Read More

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December 2022

Celiac disease: From genetics to epigenetics.

World J Gastroenterol 2022 Jan;28(4):449-463

School of Medicine and Surgery, University of Milano-Bicocca, Monza 20900, Italy.

Celiac disease (CeD) is a multifactorial autoimmune disorder spread worldwide. The exposure to gluten, a protein found in cereals like wheat, barley and rye, is the main environmental factor involved in its pathogenesis. Even if the genetic predisposition represented by HLA-DQ2 or HLA-DQ8 haplotypes is widely recognised as mandatory for CeD development, it is not enough to explain the total predisposition for the disease. Read More

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January 2022

Pathophysiology and immunogenetics of celiac disease.

Clin Chim Acta 2022 Mar 1;528:74-83. Epub 2022 Feb 1.

Physiology and Physiopathology Team, Faculty of Sciences, Genomic of Human Pathologies Research, Mohammed V University in Rabat, Morocco.

Celiac disease (CD) is a chronic inflammatory enteropathy caused by gluten (protein from wheat, rye and, barley) in genetically predisposed individuals carrying the HLA-DQ2/HLA-DQ8 genotype. This pathology has a multifactorial etiology in which HLA genes, the microbiome, gluten and, other environmental factors are involved in the development of the disease. Its pathogenesis involves both innate and adaptive immunity as well as upregulation of IL-15. Read More

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Celiac disease may be rare among children in South China.

J Int Med Res 2022 Feb;50(2):3000605221076923

The First Affiliated Hospital, Jinan University, Guangzhou, China.

Objective: The prevalence of celiac disease (CD) varies geographically and ethnically; however, the prevalence among children in South China remains unknown. We therefore determined the occurrence of CD among Chinese children in South China.

Methods: Serum samples were collected from children and assessed for anti-tissue transglutaminase IgA antibodies (anti-tTG-IgA) and total IgA. Read More

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February 2022

HLA-DQ2 and HLA-DQ8 Alleles in Celiac Disease Patients and Healthy Controls.

J Coll Physicians Surg Pak 2022 Feb;32(2):157-160

Department of Immunology, Armed Forces Institute of Pathology (AFIP), Rawalpindi, Pakistan.

Objective: To compare HLA-DQ2 and HLA-DQ8 alleles between celiac disease patients and healthy control group.

Study Design: Observational cross-sectional study.

Place And Duration Of Study: Department of Immunology, Armed Forces Institute of Pathology (AFIP), from April to December 2018. Read More

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February 2022

Role of HLA-DQ typing and antitissue transglutaminase antibody titres in diagnosing coeliac disease among Sudanese children with type 1 diabetes mellitus.

BMJ Open Gastroenterol 2022 01;9(1)

Translational Immunology Research Program, Department of Clinical and Medical Genetics, University of Helsinki, Helsinki, Finland.

Objective: The aim of the study was to determine the prevalence of coeliac disease (CD) and to recognise Human leukocyte antigen (HLA)-associated hereditary susceptibility to Sudanese CD patients with type 1 diabetes mellitus (DM1).

Design: Antitissue transglutaminase IgA (anti-TG IgA) was measured in the serum of 373 children affected with DM1 aged 1-19-year old and in 100 serum samples from non-diabetic control children. Histological examination was performed in 19 children seropositive for anti-TG IgA (17 DMI and 2 controls). Read More

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January 2022

Review on pediatric coeliac disease from a clinical perspective.

Eur J Pediatr 2022 May 15;181(5):1785-1795. Epub 2022 Jan 15.

Department of Pediatrics, Leiden University Medical Center, Leiden, the Netherlands.

Coeliac disease is an immune-mediated condition characterized by chronic inflammation of the small bowel with villous atrophy driven by gluten ingestion in genetically predisposed individuals. It occurs frequently in both children and adults, affecting 1-4% of the population. The disease is associated with both gastrointestinal and extra-intestinal symptoms related to malabsorption and/or immune activation, and autoantibodies to tissue transglutaminase. Read More

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Possible effect of the HLA-DQ2/DQ8 polymorphism on autoimmune parameters and lymphocyte subpopulation in recurrent pregnancy losses.

J Reprod Immunol 2022 Feb 17;149:103467. Epub 2021 Dec 17.

Department of Genetics and Clinical Immunology, Institute of Tuberculosis and Lung Diseases in Warsaw, Warsaw, Poland.

Recurrent pregnancy loss (RPL) affects 1-2 % of women. Allo- and autoimmune disorders are a recognized factor for RPL and poor pregnancy outcomes. There is a link between antiphospholipid syndrome (APS), Hashimoto's thyroiditis or coeliac disease, and pregnancy losses. Read More

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February 2022

The prevalence of coeliac disease-associated human leukocyte antigens in South African transplant donors and recipients.

S Afr Med J 2021 Oct 5;111(10):991-994. Epub 2021 Oct 5.

Department of Paediatrics, Rahima Moosa Mother and Child Hospital and Department of Paediatrics and Child Health, School of Clinical Medicine, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa.

Background: Coeliac disease (CD) is an autoimmune condition occurring in genetically predisposed individuals exposed to an environmental trigger. The human leukocyte antigen (HLA) haplotypes HLA-DQ2.5 and HLA-DQ8 have the strongest association with CD, and 90 - 95% of CD patients bear these haplotypes. Read More

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October 2021

Seronegative Celiac Disease; Frequently Encountered Yet Undiagnosed Clinical Entity.

Middle East J Dig Dis 2021 Jan 2;13(1):35-42. Epub 2021 Mar 2.

Senior Professor, Department of Gastroenterology, SMS Medical College and Hospitals, Jaipur, India.

BACKGROUND There are limited studies on the seronegative celiac disease from the Indian subcontinent. The aim of this study was to assess the prevalence, pathological, genetic, and clinical profile of patients with seronegative celiac disease. METHODS This prospective observational study was conducted in the Department of Gastroenterology, SMS Hospital, Jaipur, between October 2017 to March 2019. Read More

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January 2021

Self-reported Wheat Sensitivity in Irritable Bowel Syndrome and Healthy Subjects: Prevalence of Celiac Markers and Response to Wheat-free Diet.

J Neurogastroenterol Motil 2021 Oct;27(4):596-601

Department of Transfusion Medicine, P D Hinduja Hospital, Mumbai, India.

Background/aims: Most patients with irritable bowel syndrome (IBS) report food-related aggravation of symptoms. Wheat/gluten is one of the most commonly incriminated. We studied the prevalence of self-reported wheat sensitivity in patients with IBS and in a healthy population from a region in India consuming mixed-cereal diets, correlated it with serological and human leukocyte antigen (HLA) markers of celiac disease, and evaluated the response to a wheat-free diet. Read More

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October 2021

Ranking of immunodominant epitopes in celiac disease: Identification of reliable parameters for the safety assessment of innovative food proteins.

Food Chem Toxicol 2021 Nov 25;157:112584. Epub 2021 Sep 25.

European Food Safety Authority (EFSA), via Carlo Magno 1A, 43021, Parma, Italy. Electronic address:

A ranking of gluten T-cell epitopes triggering celiac disease (CD) for its potential application in the safety assessment of innovative food proteins is developed. This ranking takes into account clinical relevance and information derived from key steps involved in the CD pathogenic pathway: enzymatic digestion, epitope binding to HLA-DQ receptors of the antigen-presenting cells and activation of pro-inflammatory CD4 T-cells, which recognizes the HLA-DQ-epitope complex and initiates the inflammatory response. In silico chymotrypsin digestion was the most discriminatory tool for the ranking of gluten T-cell epitopes among all digestive enzymes studied, classifying 81% and 60% of epitopes binding HLA-DQ2. Read More

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November 2021

Clinical classification and long-term outcomes of seronegative coeliac disease: a 20-year multicentre follow-up study.

Aliment Pharmacol Ther 2021 11 8;54(10):1278-1289. Epub 2021 Sep 8.

Academic Department of Gastroenterology, Royal Hallamshire Hospital, Sheffield, UK.

Background: Seronegative coeliac disease is poorly defined.

Aims: To study clinical phenotypes and long-term outcomes of seronegative coeliac disease in a multicentre cohort over 20 years.

Methods: Seronegative coeliac disease was diagnosed in HLA-DQ2/DQ8-positive patients with villous atrophy (VA), negative IgA endomysial (EmA), tissue transglutaminase (tTG) and deamidated-gliadin antibodies (DGP), clinical and histological response to a gluten-free diet (GFD), and no alternative causes for VA. Read More

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November 2021

Co-factors, Microbes, and Immunogenetics in Celiac Disease to Guide Novel Approaches for Diagnosis and Treatment.

Gastroenterology 2021 11 17;161(5):1395-1411.e4. Epub 2021 Aug 17.

Institute of Translational Immunology,Research Center for Immune Therapy and Celiac Center, University Medical Center, Johannes Gutenberg University, Mainz, Germany; Division of Gastroenterology, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, Massachusetts, USA. Electronic address:

Celiac disease (CeD) is a frequent immune-mediated disease that affects not only the small intestine but also many extraintestinal sites. The role of gluten proteins as dietary triggers, HLA-DQ2 or -DQ8 as major necessary genetic predisposition, and tissue transglutaminase (TG2) as mechanistically involved autoantigen, are unique features of CeD. Recent research implicates many cofactors working in synergism with these key triggers, including the intestinal microbiota and their metabolites, nongluten dietary triggers, intestinal barrier defects, novel immune cell phenotypes, and mediators and cytokines. Read More

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November 2021


Arq Gastroenterol 2021 Apr-Jun;58(2):214-216

UUniversidade Federal do Paraná, Hospital de Clínicas, Curitiba, PR, Brasil.

Background: Celiac disease (CD) is an autoimmune disease characterized by immune reaction mostly to wheat gluten. The diagnosis is based on clinical, serological and histological findings in patients ingesting gluten. Cases that the clinical profile indicates CD and the autoantibodies are negative bring so a dilemma for the professional, as the risk of missed the diagnosis or a delay at the same. Read More

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Arq Gastroenterol 2021 Apr-Jun;58(2):164-167

Yeovil District Hospital, Department of Pediatrics, Higher Kingston, Yeovil, BA21 4AT, UK.

Background: Celiac disease (CD) is an immune-mediated systemic disorder elicited by the ingestion of gluten. The European Society for Paediatric Gastroenterology, Hepatology and Nutrition (ESPGHAN) guidelines published in 2012 suggested a no-biopsy pathway (NBP) for symptomatic children with IgA tissue transglutaminase (TGA-IgA) ≥10x upper limit of normal (ULN). Biopsy confirmation remained mandatory for other cases. Read More

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Interplay Between Gluten, HLA, Innate and Adaptive Immunity Orchestrates the Development of Coeliac Disease.

Front Immunol 2021 2;12:674313. Epub 2021 Jun 2.

Department of Medicine, The University of Chicago, Chicago, IL, United States.

Several environmental, genetic, and immune factors create a "perfect storm" for the development of coeliac disease: the antigen gluten, the strong association of coeliac disease with HLA, the deamidation of gluten peptides by the enzyme transglutaminase 2 (TG2) generating peptides that bind strongly to the predisposing HLA-DQ2 or HLA-DQ8 molecules, and the ensuing unrestrained T cell response. T cell immunity is at the center of the disease contributing to the inflammatory process through the loss of tolerance to gluten and the differentiation of HLA-DQ2 or HLA-DQ8-restricted anti-gluten inflammatory CD4 T cells secreting pro-inflammatory cytokines and to the killing of intestinal epithelial cells by cytotoxic intraepithelial CD8 lymphocytes. However, recent studies emphasize that the individual contribution of each of these cell subsets is not sufficient and that interactions between these different populations of T cells and the simultaneous activation of innate and adaptive immune pathways in distinct gut compartments are required to promote disease immunopathology. Read More

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October 2021

TagSNP approach for HLA risk allele genotyping of Saudi celiac disease patients: effectiveness and pitfalls.

Biosci Rep 2021 06;41(6)

Pediatric Gastroenterology Unit, Department of Pediatrics, Faculty of Medicine, King Abdulaziz University, Jeddah, Saudi Arabia.

Background: Celiac disease (CD) is a genetically complex autoimmune disease which is triggered by dietary gluten. Human leukocyte antigen (HLA) class II genes are known to act as high-risk markers for CD, where >95% of CD patients carry (HLA), DQ2 and/or DQ8 alleles. Therefore, the present study was conducted to investigate the distribution of HLA haplotypes among Saudi CD patients and healthy controls by using the tag single nucleotide polymorphisms (SNP). Read More

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The Circulating Midkine in the Newly Diagnosed Celiac Disease: Clinical Implications.

Adv Biomed Res 2021 27;10. Epub 2021 Jan 27.

Department of Immunology, Faculty of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran.

Background: Celiac disease (CeD) is a chronic inflammatory small intestine disorder caused by an abnormal immune response to an array of the epitopes of the wheat gluten and related proteins of rye and barley in genetically susceptible individuals. Midkine (MK) is an angiogenic cytokine, chemotactic in the direction of polymorphonuclear neutrophils and macrophages, and a T-regulatory cell suppressor. So far, a possible relationship with CeD has not yet been explored. Read More

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January 2021