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Autoimmune enteropathy

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https://www.readbyqxmd.com/read/29764931/high-rates-of-variation-in-hla-dq2-dq8-testing-for-coeliac-disease-results-from-an-rcpaqap-pilot-program
#1
Martin Patrick Horan, Sze Yee Chai, Nalishia Munusamy, Kwang Hong Tay, Louise Wienholt, Jason A Tye-Din, James Daveson, Michael Varney, Tony Badrick
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...
May 15, 2018: Journal of Clinical Pathology
https://www.readbyqxmd.com/read/29722267/recommendations-to-report-and-interpret-hla-genetic-findings-in-coeliac-disease
#2
Concepción Núñez, José Antonio Garrote, Eduardo Arranz, José Ramón Bilbao, Fernando Fernández Bañares, Juana Jiménez, Teresa Perucho, Eva Ruiz Casares, Félix Sánchez-Valverde, Nacho Serrano
Coeliac disease (CD) is a chronic autoimmune enteropathy triggered by gluten and related prolamines in genetically predisposed individuals. Although CD is a polygenic disease, there is a strong association with genes of the human leukocyte antigen (HLA) region. Most patients present the HLA-DQ2 heterodimer, specifically the DQ2.5 isoform, which is present in around 90-96% of patients of European ancestry.
May 3, 2018: Revista Española de Enfermedades Digestivas
https://www.readbyqxmd.com/read/29704593/treg-dysfunction-induces-autoantibodies-to-bullous-pemphigoid-antigens-in-mice-and-humans
#3
Ken Muramatsu, Hideyuki Ujiie, Ichiro Kobayashi, Wataru Nishie, Kentaro Izumi, Takamasa Ito, Norihiro Yoshimoto, Ken Natsuga, Hiroaki Iwata, Hiroshi Shimizu
BACKGROUND: Regulatory T cells (Tregs) play a crucial role in peripheral immune tolerance in multiple organs, including the skin. Thus far, the impact of peripheral immune tolerance failure on autoantibody-related autoimmune reaction to the skin is unclear. OBJECTIVE: We sought to elucidate the target autoantigens in the skin under the condition of Treg dysfunction due to Foxp3 gene mutations in scurfy mice and patients with immunodysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome...
April 25, 2018: Journal of Allergy and Clinical Immunology
https://www.readbyqxmd.com/read/29678747/predictive-markers-for-humoral-influenza-vaccine-response-in-patients-with-common-variable-immunodeficiency-cvid
#4
Ann Gardulf, Hassan Abolhassani, Rolf Gustafson, Lars E Eriksson, Lennart Hammarström
BACKGROUND: A subgroup of patients with common variable immunodeficiencies (CVID) responds to vaccination. The aim of the study was to try to identify predictive markers for those who developed a humoral immune response after influenza vaccination. METHODS: 48 patients with CVID (29 females, 19 males, mean age 59.4 years) were vaccinated with the A(H1N1) influenza vaccine Pandemrix® and boosted after one month. Blood samples were collected prior to each vaccination and two months later...
April 17, 2018: Journal of Allergy and Clinical Immunology
https://www.readbyqxmd.com/read/29651973/the-clinical-and-immunological-features-of-patients-with-primary-antibody-deficiencies
#5
Gholamreza Azizi, Yasser Bagheri, Marzieh Tavakol, Forough Askarimoghaddam, Kiyoomars Poorrostami, Hosein Rafiemanesh, Reza Yazdani, Fatemeh Kiaee, Sima Habibi, Kosar Abouhamzeh, Hamed Mohammadi, Mostafa Qorbani, Hassan Abolhassani, Asghar Aghamohammadi
BACKGROUND: Primary antibody deficiency (PAD) comprises a range of diseases from early to late terminal B cells defects and is associated with the various clinical complications. METHODS: A total of 461 patients (311 males and 150 females) with PADs enrolled in the retrospective cohort study and for all patients' demographic information, clinical records and laboratory data were collected to investigate clinical complications. RESULTS: The most prevalent first presentations of immunodeficiency were respiratory tract infections in 63...
April 12, 2018: Endocrine, Metabolic & Immune Disorders Drug Targets
https://www.readbyqxmd.com/read/29651287/neutralizing-anti-cytokine-autoantibodies-against-interferon-%C3%AE-in-immunodysregulation-polyendocrinopathy-enteropathy-x-linked
#6
Jacob M Rosenberg, Maria E Maccari, Federica Barzaghi, Eric J Allenspach, Claudio Pignata, Giovanna Weber, Troy R Torgerson, Paul J Utz, Rosa Bacchetta
Anti-cytokine autoantibodies (ACAAs) have been described in a growing number of primary immunodeficiencies with autoimmune features, including autoimmune polyendocrine syndrome type I (APS-1), a prototypical disease of defective T cell-mediated central tolerance. Whether defects in peripheral tolerance lead to similar ACAAs is unknown. Immunodysregulation polyendocrinopathy enteropathy X-linked (IPEX) is caused by mutations in FOXP3 , a master regulator of T regulatory cells (Treg ), and consequently results in defective T cell-mediated peripheral tolerance...
2018: Frontiers in Immunology
https://www.readbyqxmd.com/read/29614595/-the-462nd-case-chronic-watery-diarrhea-and-acute-kidney-injury
#7
Y H Ni, J Li, W X Zhou, Y P Luo, Q W Jiang, Y Liu, C Yue, G Sun, J M Qian
A 60-year-old man presented with severe watery diarrhea for 2 months complicated with weight loss and acute kidney injury. He did not respond well to antidiarrheal medicines, empirical antibiotics and dietary exclusion of gluten or even complete bowel rest. The final diagnosis of autoimmune enteropathy (AIE) was made based on histopathologic findings of endoscopic biopsy from duodenal mucosa after excluding neoplastic disease, inflammatory bowel disease, and infectious diarrhea, etc. Chronic diarrhea and oliguria alleviated after the administration of corticosteroids...
April 1, 2018: Zhonghua Nei Ke za Zhi [Chinese Journal of Internal Medicine]
https://www.readbyqxmd.com/read/29567430/ipex-due-to-an-exon-7-skipping-foxp3-mutation-with-autoimmune-diabetes-mellitus-cured-by-selective-t-reg-cell-engraftment
#8
Thomas Magg, Volker Wiebking, Raffaele Conca, Stefan Krebs, Stefan Arens, Irene Schmid, Christoph Klein, Michael H Albert, Fabian Hauck
Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome is a rare inherited disorder leading to severe organ-specific autoimmunity. IPEX is caused by hemizygous mutations in FOXP3, which codes for a master transcription factor of regulatory T (TReg ) cell development and function. We describe a four-year-old boy with typical but slightly delayed-onset of IPEX with autoimmune diabetes mellitus, enteropathy, hepatitis and skin disease. We found the unreported FOXP3 splice site mutation c...
March 19, 2018: Clinical Immunology: the Official Journal of the Clinical Immunology Society
https://www.readbyqxmd.com/read/29561984/prevalence-of-celiac-disease-predisposing-genotypes-including-hla-dq2-2-variant-in-brazilian-children
#9
Nicole Selleski, Lucas Malta Almeida, Fernanda Coutinho de Almeida, Claudia Beatriz Pratesi, Yanna Karla de Medeiros Nóbrega, Lenora Gandolfi
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. Over the last few years, great importance has been given to HLA-DQ2.2 as probable predisposing variant, although controversies still exist regarding its relevance. OBJECTIVE: The aim of our study was to determine the possible existence of an association between HLA-DQ2...
January 2018: Arquivos de Gastroenterologia
https://www.readbyqxmd.com/read/29503741/beyond-the-role-of-cd55-as-a-complement-component
#10
REVIEW
So Hee Dho, Jae Cheong Lim, Lark Kyun Kim
The complement is a part of the immune system that plays several roles in removing pathogens. Despite the importance of the complement system, the exact role of each component has been overlooked because the complement system was thought to be a nonspecific humoral immune mechanism that worked against pathogens. Decay-accelerating factor (DAF or CD55) is a known inhibitor of the complement system and has recently attracted substantial attention due to its role in various diseases, such as cancer, protein-losing enteropathy, and malaria...
February 2018: Immune Network
https://www.readbyqxmd.com/read/29446107/intestinal-t-cell-lymphoma-with-enteropathy-associated-t-cell-lymphoma-like-features-arising-in-the-setting-of-adult-autoimmune-enteropathy
#11
Rachele Ciccocioppo, Giorgio A Croci, Federico Biagi, Alessandro Vanoli, Costanza Alvisi, Giorgio Cavenaghi, Roberta Riboni, Mariarosa Arra, Paolo G Gobbi, Marco Paulli, Gino R Corazza
Enteropathy-associated T-cell lymphoma is regarded as a dismal, late complication of coeliac disease, though a single case of T-cell lymphoma with such features arising in the setting of autoimmune enteropathy of the adult has been reported to date. We aim to describe the case of a 41-year-old woman complaining of severe malabsorption syndrome, who was diagnosed with autoimmune enteropathy based on the presence of flat intestinal mucosa unresponsive to any dietary restriction and positivity for enterocyte autoantibodies...
April 2018: Hematological Oncology
https://www.readbyqxmd.com/read/29413009/nutritional-consideration-in-celiac-disease-and-nonceliac-gluten-sensitivity
#12
REVIEW
Rishi D Naik, Douglas L Seidner, Dawn Wiese Adams
Celiac disease is an autoimmune disorder due to the inflammatory response to gluten in genetically predisposed individuals. It causes an enteropathy associated with several nutritional complications. Strict compliance to a gluten-free diet (GFD) is the current primary therapy. Nonceliac gluten sensitivity (NCGS) is a condition in which gluten ingestion leads to systemic symptoms but is not associated with small bowel atrophy or abnormal celiac serologies. A GFD heals celiac disease enteropathy and improves symptoms in NCGS...
March 2018: Gastroenterology Clinics of North America
https://www.readbyqxmd.com/read/29307846/features-of-adult-autoimmune-enteropathy-compared-with-refractory-celiac-disease
#13
Ayush Sharma, Rok Seon Choung, Xiao Jing Wang, Pierre A Russo, Tsung-Teh Wu, Vandana Nehra, Joseph A Murray
BACKGROUND & AIMS: Little is known about the features of immune-mediated non-celiac villous atrophies, such as autoimmune enteropathy (AIE). We investigated the demographic, clinical, and histologic features of adults with AIE compared to adults with refractory celiac disease type 1. We also report outcomes of treatment with open-label budesonide. METHODS: We performed a retrospective case-control of patients with AIE (n = 30) seen at the Mayo Clinic (in Rochester, Minnesota) from 2000 through 2015...
January 4, 2018: Clinical Gastroenterology and Hepatology
https://www.readbyqxmd.com/read/29302503/celiac-disease-in-south-jordan
#14
Eyad Altamimi
Purpose: Celiac disease, an autoimmune enteropathy triggered by exposure to gluten, is not uncommon in South Jordan. However, its prevalence is underestimated due to lack of physician awareness of the diversity of disease presentation. The clinical spectrum includes classic gastrointestinal manifestations, as well as rickets, iron-deficiency anemia, short stature, elevated liver enzymes, and edema. Our goal was to evaluate celiac disease presentation in clinically diagnosed children. Methods: Retrospective study included all children diagnosed with celiac disease between September 2009 and September 2015...
December 2017: Pediatric Gastroenterology, Hepatology & Nutrition
https://www.readbyqxmd.com/read/29274967/milk-basic-protein-supplementation-exerts-an-anti-inflammatory-effect-in-a-food-allergic-enteropathy-model-mouse
#15
Aiko Ono-Ohmachi, Haruyo Nakajima-Adachi, Yoshikazu Morita, Ken Kato, Satoshi Hachimura
To examine novel functions of milk basic protein (MBP) in T-cell-related inflammatory diseases, such as autoimmune diseases and allergies, we evaluated the effects of MBP on the causative responses of ovalbumin (OVA)-specific T cells in a food-allergic enteropathy model, OVA23-3 mice, which express an OVA-specific T-cell receptor gene. The OVA-specific CD4+ T cells of the mesenteric lymph nodes (MLN) from OVA23-3 mice were cultured with CD11c+ dendritic cells of MLN from BALB/cA mice in the absence or presence of MBP following stimulation with OVA; then the levels of CD69 expression and the levels of cytokine production by CD4+ T cells were measured to evaluate activation...
March 2018: Journal of Dairy Science
https://www.readbyqxmd.com/read/29241729/long-term-follow-up-of-ipex-syndrome-patients-after-different-therapeutic-strategies-an-international-multicenter-retrospective-study
#16
Federica Barzaghi, Laura Cristina Amaya Hernandez, Benedicte Neven, Silvia Ricci, Zeynep Yesim Kucuk, Jack J Bleesing, Zohreh Nademi, Mary Anne Slatter, Erlinda Rose Ulloa, Anna Shcherbina, Anna Roppelt, Austen Worth, Juliana Silva, Alessandro Aiuti, Luis Murguia-Favela, Carsten Speckmann, Magda Carneiro-Sampaio, Juliana Folloni Fernandes, Safa Baris, Ahmet Ozen, Elif Karakoc-Aydiner, Ayca Kiykim, Ansgar Schulz, Sandra Steinmann, Lucia Dora Notarangelo, Eleonora Gambineri, Paolo Lionetti, William Thomas Shearer, Lisa R Forbes, Caridad Martinez, Despina Moshous, Stephane Blanche, Alain Fisher, Frank M Ruemmele, Come Tissandier, Marie Ouachee-Chardin, Frédéric Rieux-Laucat, Marina Cavazzana, Waseem Qasim, Barbarella Lucarelli, Michael H Albert, Ichiro Kobayashi, Laura Alonso, Cristina Diaz De Heredia, Hirokazu Kanegane, Anita Lawitschka, Jong Jin Seo, Marta Gonzalez-Vicent, Miguel Angel Diaz, Rakesh Kumar Goyal, Martin G Sauer, Akif Yesilipek, Minsoo Kim, Yesim Yilmaz-Demirdag, Monica Bhatia, Julie Khlevner, Erick J Richmond Padilla, Silvana Martino, Davide Montin, Olaf Neth, Agueda Molinos-Quintana, Justo Valverde-Fernandez, Arnon Broides, Vered Pinsk, Antje Ballauf, Filomeen Haerynck, Victoria Bordon, Catharina Dhooge, Maria Laura Garcia-Lloret, Robbert G Bredius, Krzysztof Kałwak, Elie Haddad, Markus Gerhard Seidel, Gregor Duckers, Sung-Yun Pai, Christopher C Dvorak, Stephan Ehl, Franco Locatelli, Frederick Goldman, Andrew Richard Gennery, Mort J Cowan, Maria-Grazia Roncarolo, Rosa Bacchetta
BACKGROUND: Immunodysregulation polyendocrinopathy enteropathy x-linked (IPEX) syndrome is a monogenic autoimmune disease caused by FOXP3 mutations. Because it is a rare disease, the natural history and response to treatments, including allogeneic hematopoietic stem cell transplantation (HSCT) and immunosuppression (IS), have not been thoroughly examined. OBJECTIVE: This analysis sought to evaluate disease onset, progression, and long-term outcome of the 2 main treatments in long-term IPEX survivors...
March 2018: Journal of Allergy and Clinical Immunology
https://www.readbyqxmd.com/read/29162372/genetics-environment-and-asthma-associated-with-celiac-disease-in-the-extended-family-of-an-affected-child
#17
R Sigala-Robles, S V Aguayo-Patrón, A M Calderón de la Barca
INTRODUCTION: Celiac disease (CD) is an autoimmune enteropathy associated with gluten ingestion. In extended families of celiac patients that live in close proximity of one another, shared genetic and environmental factors can predispose them to CD. AIM: The aim of this study was to provide evidence about the genetic and environmental factors involved in the development of CD in the extended family of a pediatric patient. METHODS: The medical history, environmental conditions, and participant weight, height, and peripheral blood samples were evaluated...
November 18, 2017: Revista de Gastroenterología de México
https://www.readbyqxmd.com/read/29139480/position-paper-the-potential-role-of-optical-biopsy-in-the-study-and-diagnosis-of-environmental-enteric-dysfunction
#18
REVIEW
Alex J Thompson, Michael Hughes, Salzitsa Anastasova, Laurie S Conklin, Tudor Thomas, Cadman Leggett, William A Faubion, Thomas J Miller, Peter Delaney, François Lacombe, Sacha Loiseau, Alexander Meining, Rebecca Richards-Kortum, Guillermo J Tearney, Paul Kelly, Guang-Zhong Yang
Environmental enteric dysfunction (EED) is a disease of the small intestine affecting children and adults in low and middle income countries. Arising as a consequence of repeated infections, gut inflammation results in impaired intestinal absorptive and barrier function, leading to poor nutrient uptake and ultimately to stunting and other developmental limitations. Progress towards new biomarkers and interventions for EED is hampered by the practical and ethical difficulties of cross-validation with the gold standard of biopsy and histology...
December 2017: Nature Reviews. Gastroenterology & Hepatology
https://www.readbyqxmd.com/read/29080979/autoimmune-cytopenias-and-associated-conditions-in-cvid-a-report-from-the-usidnet-registry
#19
Elizabeth J Feuille, Niloofar Anooshiravani, Kathleen E Sullivan, Ramsay L Fuleihan, Charlotte Cunningham-Rundles
PURPOSE: Autoimmune cytopenia is frequently a presenting manifestation of common variable immune deficiency (CVID). Studies characterizing the CVID phenotype associated with autoimmune cytopenias have mostly been limited to large referral centers. Here, we report prevalence of autoimmune cytopenias in CVID from the USIDNET Registry and compare the demographics and clinical features of patients with and without this complication. METHODS: Investigators obtained demographic, laboratory, and clinical data on CVID patients within the USIDNET Registry...
January 2018: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/29075264/forkhead-box-p3-gene-transfer-in-human-cd4-t-conventional-cells-for-the-generation-of-stable-and-efficient-regulatory-t-cells-suitable-for-immune-modulatory-therapy
#20
REVIEW
Laura Passerini, Rosa Bacchetta
The development of novel approaches to control immune responses to self- and allogenic tissues/organs represents an ambitious goal for the management of autoimmune diseases and in transplantation. Regulatory T cells (Tregs) are recognized as key players in the maintenance of peripheral tolerance in physiological and pathological conditions, and Treg-based cell therapies to restore tolerance in T cell-mediated disorders have been designed. However, several hurdles, including insufficient number of Tregs, their stability, and their antigen specificity, have challenged Tregs clinical applicability...
2017: Frontiers in Immunology
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