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Autoimmune enteropathy

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https://www.readbyqxmd.com/read/28914637/signal-transducer-and-activator-of-transcription-gain-of-function-primary-immunodeficiency-immunodysregulation-disorders
#1
Filippo Consonni, Laura Dotta, Francesca Todaro, Donatella Vairo, Raffaele Badolato
PURPOSE OF REVIEW: To describe primary immunodeficiencies caused by gain-of-function (GOF) mutations of signal transducer and activator of transcription (STAT) genes, a group of genetically determined disorders characterized by susceptibility to infections and, in many cases, autoimmune manifestations. RECENT FINDINGS: GOF mutations affecting STAT1 result in increased STAT tyrosine phosphorylation and secondarily increased response to STAT1-signaling cytokines, such as interferons...
September 13, 2017: Current Opinion in Pediatrics
https://www.readbyqxmd.com/read/28887914/curcumin-attenuates-the-scurfy-induced-immune-disorder-a-model-of-ipex-syndrome-with-inhibiting-th1-th2-th17-responses-in-mice
#2
Gihyun Lee, Hwan-Suck Chung, Kyeseok Lee, Hyeonhoon Lee, Minhwan Kim, Hyunsu Bae
BACKGROUND: Immunodysregulation polyendocrinopathy enteropathy X-linked syndrome (IPEX) is a lethal autoimmune disease caused by mutations in the Foxp3 gene scurfin (scurfy). Immunosuppressive therapy for IPEX patients has been generally ineffective and has caused severe side effects, however curcumin has shown immune regulation properties for inflammatory diseases, such as rheumatoid arthritis, psoriasis, and inflammatory bowel diseases without side effects. OBJECTIVE: The aim of this study was to investigate whether curcumin would attenuate symptoms of IPEX in mouse model and would prolong its survival period...
September 15, 2017: Phytomedicine: International Journal of Phytotherapy and Phytopharmacology
https://www.readbyqxmd.com/read/28833278/whole-genome-sequencing-identifies-etiology-of-recurrent-male-intrauterine-fetal-death
#3
Omar Shehab, David J Tester, Nicholas C Ackerman, F Susan Cowchock, Michael J Ackerman
OBJECTIVE: To identify the underlying genetic cause for recurrent intrauterine fetal death (IUFD) of males. METHODS: Whole genome sequencing (WGS) was performed on DNA from 5 healthy obligatory carrier females and an unaffected male offspring of a multigenerational pedigree with recurrent second trimester IUFD of males (n=19). When documented, all deaths occurred at ≤ 20 weeks gestation. Hydrops fetalis was diagnosed at death in the most recent case. RESULTS: Following variant filtering based on a recessive X-linked inheritance pattern, a rare FOXP3 frame-shift mutation (p...
August 18, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28817113/clinical-and-histologic-mimickers-of-celiac-disease
#4
REVIEW
Amrit K Kamboj, Amy S Oxentenko
Celiac disease is an autoimmune disorder of the small bowel, classically associated with diarrhea, abdominal pain, and malabsorption. The diagnosis of celiac disease is made when there are compatible clinical features, supportive serologic markers, representative histology from the small bowel, and response to a gluten-free diet. Histologic findings associated with celiac disease include intraepithelial lymphocytosis, crypt hyperplasia, villous atrophy, and a chronic inflammatory cell infiltrate in the lamina propria...
August 17, 2017: Clinical and Translational Gastroenterology
https://www.readbyqxmd.com/read/28783662/suppression-by-human-foxp3-regulatory-t-cells-requires-foxp3-tip60-interactions
#5
Khalid Bin Dhuban, Eva d'Hennezel, Yasuhiro Nagai, Yan Xiao, Steven Shao, Roman Istomine, Fernando Alvarez, Moshe Ben-Shoshan, Hans Ochs, Bruce Mazer, Bin Li, Chiyoko Sekine, Alan Berezov, Wayne Hancock, Troy R Torgerson, Mark I Greene, Ciriaco A Piccirillo
CD4(+)FOXP3(+) regulatory T (Treg) cells are critical mediators of immune tolerance, and their deficiency owing to FOXP3 mutations in immunodysregulation polyendocrinopathy enteropathy X-linked syndrome (IPEX) patients results in severe autoimmunity. Different FOXP3 mutations result in a wide range of disease severity, reflecting the relative importance of the affected residues in the integrity of the FOXP3 protein and its various molecular interactions. We characterized the cellular and molecular impact of the most common IPEX mutation, p...
June 16, 2017: Science Immunology
https://www.readbyqxmd.com/read/28757190/-severe-diarrhoea-due-to-autoimmune-enteropathy-treatment-and-outcomes
#6
Carmen Lázaro de Lucas, Laura Tesouro Rodríguez, Lorena Nélida Magallares García, Eva Martínez-Ojinaga Nodal, Esther Ramos Boluda
No abstract text is available yet for this article.
July 27, 2017: Anales de Pediatría: Publicación Oficial de la Asociación Española de Pediatría (A.E.P.)
https://www.readbyqxmd.com/read/28755066/two-sides-of-the-same-coin-pediatric-onset-and-adult-onset-common-variable-immune-deficiency
#7
Lauren A Sanchez, Solrun Melkorka Maggadottir, Matthew S Pantell, Patricia Lugar, Charlotte Cunningham Rundles, Kathleen E Sullivan
PURPOSE: Common variable immunodeficiency (CVID) is a complex, heterogeneous immunodeficiency characterized by hypogammaglobulinemia, recurrent infections, and poor antibody response to vaccination. While antibiotics and immunoglobulin prophylaxis have significantly reduced infectious complications, non-infectious complications of autoimmunity, inflammatory lung disease, enteropathy, and malignancy remain of great concern. Previous studies have suggested that CVID patients diagnosed in childhood are more severely affected by these complications than adults diagnosed later in life...
July 28, 2017: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/28733178/clinical-usefulness-of-serum-antibodies-as-biomarkers-of-gastrointestinal-and-liver-diseases
#8
REVIEW
Antonio Di Sabatino, Federico Biagi, Marco Lenzi, Luca Frulloni, Marco Vincenzo Lenti, Paolo Giuffrida, Gino Roberto Corazza
The progressively growing knowledge of the pathophysiology of a number of immune-mediated gastrointestinal and liver disorders, including autoimmune atrophic gastritis, coeliac disease, autoimmune enteropathy, inflammatory bowel disease, autoimmune hepatitis, primary sclerosing cholangitis, primary biliary cholangitis and autoimmune pancreatitis, together with the improvement of their detection methods have increased the diagnostic power of serum antibodies. In some cases - coeliac disease and autoimmune atrophic gastritis - they have radically changed gastroenterologists' diagnostic ability, while in others - autoimmune hepatitis, inflammatory bowel disease and autoimmune pancreatitis - their diagnostic performance is still inadequate...
June 23, 2017: Digestive and Liver Disease
https://www.readbyqxmd.com/read/28704189/chronic-hepatitis-due-to-gluten-enteropathy-a-case-report
#9
Irina I Ivanova, Denitsa Y Dukova, Pavlina G Boikova, Lili S Grudeva, Ivan B Shalev, Iskren A Kotzev
BACKGROUND: Celiac disease is an immune-mediated enteropathy precipitated by exposure to dietary gluten in genetically predisposed individuals. CASE DESCRIPTION: A 45-year-old Caucasian woman presented with severe iron-deficient anemia and mild elevation of liver enzymes. Upper endoscopy was done in the context of evaluation of anemia, which revealed reduced duodenal folds and mosaic pattern of the mucosa, but also grade II esophageal varices and portal hypertensive gastropathy...
June 1, 2017: Folia Medica
https://www.readbyqxmd.com/read/28523968/gastrointestinal-system-involvement-in-systemic-lupus-erythematosus
#10
Z Li, D Xu, Z Wang, Y Wang, S Zhang, M Li, X Zeng
Systemic lupus erythematosus (SLE) is a multisystem disorder which can affect the gastrointestinal (GI) system. Although GI symptoms can manifest in 50% of patients with SLE, these have barely been reviewed due to difficulty in identifying different causes. This study aims to clarify clinical characteristics, diagnosis and treatment of the four major SLE-related GI system complications: protein-losing enteropathy (PLE), intestinal pseudo-obstruction (IPO), hepatic involvement and pancreatitis. It is a systematic review using MEDLINE and EMBASE databases and the major search terms were SLE, PLE, IPO, hepatitis and pancreatitis...
January 1, 2017: Lupus
https://www.readbyqxmd.com/read/28521835/adult-autoimmune-enteropathy-presenting-initially-with-acquired-acrodermatitis-enteropathica-a-case-report
#11
Erina Lie, Sarah Sung, Steven Hoseong Yang
BACKGROUND: Acrodermatitis enteropathica (AE) is a rare dermatitis secondary to zinc deficiency most commonly seen as an inherited disease in infants. In the last decade, increased number of reports have been published on the acquired form that presents in adulthood. Unlike its inherited counterpart, acquired AE (AAE) is often secondary to underlying pathologic or iatrogenic etiologies that interfere with nutritional absorption, such as inflammatory bowel disease or alcoholism. Various gastrointestinal pathologies have been associated with AAE, but there is currently no report on its association with adult autoimmune enteropathy (AIE), a rare gastrointestinal disorder commonly seen in infants, with limited cases reported in adults...
May 18, 2017: BMC Dermatology
https://www.readbyqxmd.com/read/28512785/clinical-immunologic-molecular-analyses-and-outcomes-of-iranian-patients-with-lrba-deficiency-a-longitudinal-study
#12
Gholamreza Azizi, Hassan Abolhassani, Seyed Alireza Mahdaviani, Zahra Chavoshzadeh, Peyman Eshghi, Reza Yazdani, Fatemeh Kiaee, Mohammadreza Shaghaghi, Javad Mohammadi, Nima Rezaei, Lennart Hammarström, Asghar Aghamohammadi
BACKGROUND: LPS-responsive beige-like anchor protein (LRBA) deficiency is a combined immunodeficiency caused by mutation in LRBA gene. The patients have a variety of clinical symptoms including hypogammaglobulinemia, recurrent infections, autoimmunity, and enteropathy. METHODS: A total of 17 LRBA-deficient patients were enrolled in this longitudinal study. For all patients, demographic information, clinical records, laboratory, and molecular data were collected...
May 17, 2017: Pediatric Allergy and Immunology
https://www.readbyqxmd.com/read/28502438/celiac-disease-and-nonceliac-gluten-sensitivity
#13
REVIEW
Runa D Watkins, Shamila Zawahir
Gluten-related disorders include celiac disease (CD), wheat allergy, and nonceliac gluten sensitivity. CD is an autoimmune enteropathy caused by damage to small intestinal mucosa when gluten is ingested in genetically susceptible individuals. Currently, the only available treatment of CD is gluten-free diet. Several potential treatments are being researched. Wheat allergy is a hypersensitivity reaction caused by IgE-mediated and/or non-IgE-mediated immune response, and can involve the gastrointestinal tract, skin, or respiratory tract...
June 2017: Pediatric Clinics of North America
https://www.readbyqxmd.com/read/28488220/pla2r-positive-primary-membranous-nephropathy-in-a-child-with-ipex-syndrome
#14
Teresa Chuva, Frederick Pfister, Ortraud Beringer, Kerstin Felgentreff, Maike Büttner-Herold, Kerstin Amann
BACKGROUND: Immunodysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome is a rare primary immunodeficiency syndrome characterized by the development of multiple autoimmune disorders in affected individuals. Different forms of renal injury have been reported in IPEX syndrome, and membranous nephropathy (MN) is among the most common glomerulopathies found. However, the exact pathogenesis of MN in this setting has not been elucidated, and it is not clear whether it is part of the clinical spectrum of the disease or secondary to medications, infections or other concomitant insults...
May 9, 2017: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
https://www.readbyqxmd.com/read/28437842/autoimmune-like-chronic-hepatitis-induced-by-olmesartan
#15
Sandrine Barge, Marianne Ziol, Jean-Charles Nault
Drug liver-induced injury (DILI) due to minocyclin, alpha methyldopa or nitrofurantoin may be responsible for chronic liver damage that mimic the biological and/or histological features of chronic autoimmune hepatitis and, in rare cases, progresses to cirrhosis(1). Olmesartan medoxomil is an antihypertensive drug that acts by blocking the angiotensin II receptor and is metabolized into its pharmacologically active form, olmesartan, in the intestine and in the liver before being released into the systemic circulation...
April 24, 2017: Hepatology: Official Journal of the American Association for the Study of Liver Diseases
https://www.readbyqxmd.com/read/28393451/similarities-and-differences-between-older-and-young-adult-patients-with-celiac-disease
#16
Çağdaş Kalkan, Fatih Karakaya, Irfan Soykan
AIM: Celiac disease is an autoimmune enteropathy with variable clinical symptoms. Elderly patients can have different manifestations from those of young patients. The aims of the present study were to investigate whether any differences or similarities exist between older and young patients with celiac disease with a special emphasis on concurrent autoimmune diseases. METHODS: Celiac disease patients were stratified as older and younger patients. These two groups were then compared by means of clinical symptoms, laboratory parameters and concurrent autoimmune diseases...
April 10, 2017: Geriatrics & Gerontology International
https://www.readbyqxmd.com/read/28389733/celiac-disease-in-non-clinical-populations-of-japan
#17
Mai Fukunaga, Norihisa Ishimura, Chika Fukuyama, Daisuke Izumi, Nahoko Ishikawa, Asuka Araki, Akihiko Oka, Tomoko Mishiro, Shunji Ishihara, Riruke Maruyama, Kyoichi Adachi, Yoshikazu Kinoshita
BACKGROUND: Celiac disease is a chronic autoimmune enteropathy caused by gluten ingestion. While its prevalence in Western countries is reported to be as high as 1%, the prevalence has not been evaluated in a large-scale study of a Japanese population. The aim of our study was to clarify the possible presence of celiac disease in a Japanese non-clinical population as well as in patients showing symptoms suggestive of the disease. METHODS: Serum samples were collected from 2008 non-clinical adults and 47 patients with chronic unexplained abdominal symptoms between April 2014 and June 2016...
April 7, 2017: Journal of Gastroenterology
https://www.readbyqxmd.com/read/28337685/type-iii-hypersensitivity-reaction-to-subcutaneous-insulin-preparations-in-a-type-1-diabetic
#18
Benjamin R Murray, Jolene R Jewell, Kyle J Jackson, Olabunmi Agboola, Brianna R Alexander, Poonam Sharma
Management of type 1 diabetes in patients who have insulin hypersensitivity is a clinical challenge and places patients at risk for recurrent diabetic ketoacidosis (DKA). Hypersensitivity reactions can be due to the patient's response to the insulin molecule itself or one of the injection's non-insulin components. It is therefore crucial for clinicians to quickly recognize the type of hypersensitivity reaction that is occurring and identify potentially immunogenic additives for the purpose of directing therapy as various insulin preparations have differing ingredients...
July 2017: Journal of General Internal Medicine
https://www.readbyqxmd.com/read/28316996/overview-of-celiac-disease-in-russia-regional-data-and-estimated-prevalence
#19
REVIEW
Lyudmila V Savvateeva, Svetlana I Erdes, Anton S Antishin, Andrey A Zamyatnin
Celiac disease (CD) is an autoimmune enteropathy triggered by the ingestion of dietary gluten from some cereals mainly in individuals carrying the HLA-DQ2 and/or HLA-DQ8 haplotypes. As an autoimmune disease, CD is manifested in the small intestine in the form of a progressive and reversible inflammatory lesion due to immune response to self-antigens. Indeed, CD is one of the most challenging medicosocial problems in current gastroenterology. At present, the global CD prevalence is estimated at approximately 1% based on data sent from different locations and available CD screening strategies used...
2017: Journal of Immunology Research
https://www.readbyqxmd.com/read/28290332/peptides-from-gluten-digestion-a-comparison-between-old-and-modern-wheat-varieties
#20
Barbara Prandi, Tullia Tedeschi, Silvia Folloni, Gianni Galaverna, Stefano Sforza
Coeliac disease is an autoimmune enteropathy that develops in genetically predisposed subjects after the ingestion of gluten or related proteins. Coeliac disease has an increasing incidence in the last years in western countries and it has been suggested that wheat breeding might have contributed to select more toxic forms of gluten. In this work, we analysed gluten peptides generated by in vitro digestion of different old and modern Triticum varieties, using LC-MS. We concluded that old varieties analysed produced a higher quantity of peptides containing immunogenic and toxic sequences than modern ones...
January 2017: Food Research International
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