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https://www.readbyqxmd.com/read/29226301/the-2017-iuis-phenotypic-classification-for-primary-immunodeficiencies
#1
Aziz Bousfiha, Leïla Jeddane, Capucine Picard, Fatima Ailal, H Bobby Gaspar, Waleed Al-Herz, Talal Chatila, Yanick J Crow, Charlotte Cunningham-Rundles, Amos Etzioni, Jose Luis Franco, Steven M Holland, Christoph Klein, Tomohiro Morio, Hans D Ochs, Eric Oksenhendler, Jennifer Puck, Mimi L K Tang, Stuart G Tangye, Troy R Torgerson, Jean-Laurent Casanova, Kathleen E Sullivan
Since the 1990s, the International Union of Immunological Societies (IUIS) PID expert committee (EC), now called Inborn Errors of Immunity Committee, has published every other year a classification of the inborn errors of immunity. This complete catalog serves as a reference for immunologists and researchers worldwide. However, it was unadapted for clinicians at the bedside. For those, the IUIS PID EC is now publishing a phenotypical classification since 2013, which proved to be more user-friendly. There are now 320 single-gene inborn errors of immunity underlying phenotypes as diverse as infection, malignancy, allergy, auto-immunity, and auto-inflammation...
December 11, 2017: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/29225799/kidney-involvement-in-the-schnitzler-syndrome-a-rare-disease
#2
REVIEW
Carlo Basile, Luigi Rossi, Francesco Casucci, Annalisa Teutonico, Pasquale Libutti, Piero Lisi, Carlo Lomonte, Raffaele Manna
The Schnitzler syndrome (SS) is a rare and underdiagnosed entity that associates a chronic urticarial rash, monoclonal IgM (or sometimes IgG) gammopathy and signs and symptoms of systemic inflammation. During the past 45 years, the SS has evolved from an elusive little-known disorder to the paradigm of a late-onset acquired auto-inflammatory syndrome. Though there is no definite proof of its precise pathogenesis, it should be considered as an acquired disease involving abnormal stimulation of the innate immune system, which can be reversed by the interleukin-1 receptor antagonist anakinra...
December 2017: Clinical Kidney Journal
https://www.readbyqxmd.com/read/29217175/reactivity-of-igm-antibodies-elicited-by-pegylated-liposomes-or-pegylated-lipoplexes-against-auto-and-foreign-antigens
#3
Hidenori Ando, Amr S Abu Lila, Munehira Kawanishi, Taro Shimizu, Keiichiro Okuhira, Yu Ishima, Tatsuhiro Ishida
Polyethylene glycol (PEG) is an attractive tool for the development of nanoparticle-based cancer therapy since it endows nanoparticles with extended-circulation properties. Nevertheless, recent reports have revealed that intravenous injection of either PEGylated liposomes (SLs) or PEGylated lipoplex (PLpx) could elicit an anti-PEG immunoglobulin (IgM) response in a T cell-independent (TI) manner that would substantially compromise the in vivo fate of PEGylated products upon repeated administration. In the same context, viral or bacterial infections trigger the production of polyreactive IgM that binds both self and foreign antigens...
December 4, 2017: Journal of Controlled Release: Official Journal of the Controlled Release Society
https://www.readbyqxmd.com/read/29213268/exploring-non-metabolic-functions-of-glycolytic-enzymes-in-immunity
#4
REVIEW
Scott M Seki, Alban Gaultier
At the beginning of the twentieth century, discoveries in cancer research began to elucidate the idiosyncratic metabolic proclivities of tumor cells (1). Investigators postulated that revealing the distinct nutritional requirements of cells with unchecked growth potential would reveal targetable metabolic vulnerabilities by which their survival could be selectively curtailed. Soon thereafter, researchers in the field of immunology began drawing parallels between the metabolic characteristics of highly proliferative cancer cells and those of immune cells that respond to perceived threats to host physiology by invading tissues, clonally expanding, and generating vast amounts of pro-inflammatory effector molecules to provide the host with protection...
2017: Frontiers in Immunology
https://www.readbyqxmd.com/read/29207444/abnormal-b-cell-development-in-systemic-lupus-erythematosus-what-the-genetics-tell-us
#5
REVIEW
Sarah Karrar, Deborah S Cunninghame Graham
Systemic Lupus Erythematosus (SLE) is an autoimmune disease characterised by B-cell dysfunction, production of autoantibodies directed towards cellular and nuclear components and tissue damage caused by immune complex deposition and inflammation. It largely affects women in the 3rd and 4th decades of life and is associated with significant morbidity and mortality. In healthy individuals, B-cells with auto-reactive receptors are selected out during B-cell maturation, starting at the initial stages of B-cell receptor development in the bone marrow, through to the fine tuning that occurs in activated mature B-cells in secondary lymphoid tissue...
December 5, 2017: Arthritis & Rheumatology
https://www.readbyqxmd.com/read/29202391/high-resolution-ultrasound-in-patients-with-wartenberg-s-migrant-sensory-neuritis-a-case-control-study
#6
Ingrid J T Herraets, H Stephan Goedee, Johan A Telleman, Jan-Thies H van Asseldonk, Leo H Visser, W Ludo van der Pol, Leonard H van den Berg
OBJECTIVE: Wartenberg's migrant sensory neuritis (WMSN) is a rare, patchy, pure sensory neuropathy of unknown etiology. High-resolution ultrasonography (HRUS) is an emerging diagnostic technique for neuropathies, but it has not been applied in WMSN. In this study we aimed to determine HRUS abnormalities in WMSN. METHODS: We performed a case-control study of 8 newly diagnosed patients with WMSN and 22 treatment-naive disease controls (16 patients with pure sensory axonal neuropathy and 6 with pure sensory chronic inflammatory demyelinating polyneuropathy (CIDP) or Lewis-Sumner syndrome (LSS))...
November 21, 2017: Clinical Neurophysiology: Official Journal of the International Federation of Clinical Neurophysiology
https://www.readbyqxmd.com/read/29196608/rhesus-monkey-trim5alpha-spry-domain-contributes-to-ap-1-activation
#7
Lei Na, Yan-Dong Tang, Cuihui Wang, Cong Liu, Xiaojun Wang
TRIM5α is an important host restriction factor which could potently block retrovirus infection. The SPRY domain of TRIM5α mediates post-entry restriction by recognition of and binding to the retroviral capsid. Human TRIM5α also functions as an innate immune sensor to activate AP-1 and NF-κB signaling, which subsequently restrict virus replication. Previous studies have shown that the AP-1 and NF-κB signaling activation relies on the RING motif of TRIM5α. In this study, we have demonstrated that the SPRY domain is essential for rhesus macaca TRIM5α to activate AP-1, but not NF-κB signaling...
December 1, 2017: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/29193892/defective-regulation-of-autoreactive-il-6-producing-transitional-b-lymphocytes-is-associated-with-disease-in-patients-with-systemic-sclerosis
#8
Taher E Taher, Voon H Ong, Jonas Bystrom, Sophie Hillion, Quentin Simon, Christopher P Denton, Jacques-Olivier Pers, David J Abraham, Rizgar A Mageed
BACKGROUND: Systemic Sclerosis (SSc) has the highest case-specific mortality of any rheumatic disease and has no effective therapy. A clear manifestation of SSc is the presence of auto-antibodies. However, the origin of autoantibody-producing B lymphocytes and mechanisms of their activation, auto-antibody production and role remain unclear. OBJECTIVE: To identify mechanisms that contribute to pathogenic B cell generation, involvement in SSc and assess the altered distribution and function of B cells in patients...
November 28, 2017: Arthritis & Rheumatology
https://www.readbyqxmd.com/read/29188697/the-immune-system-basis-of-so-much-health-and-disease-4-immunocytes
#9
Crispian Scully, Eleni A Georgakopoulou, Yazan Hassona
The immune system is the body’s primary defence mechanism against infections, and disturbances in the system can cause disease if the system fails in defence functions (in immunocompromised people), or if the activity is detrimental to the host (as in auto-immune and auto-inflammatory states). A healthy immune system is also essential to normal health of dental and oral tissues. This series presents the basics for the understanding of the immune system, this article covers cells of the immune system (immunocytes)...
May 2017: Dental Update
https://www.readbyqxmd.com/read/29185130/increased-lipid-and-protein-oxidation-and-lowered-anti-oxidant-defenses-in-systemic-lupus-erythematosus-are-associated-with-severity-of-illness-autoimmunity-increased-adhesion-molecules-and-th1-and-th17-immune-shift
#10
Bruna Miglioranza Scavuzzi, Andréa Name Colado Simão, Tatiana Mayumi Veiga Iriyoda, Marcell Alysson Batisti Lozovoy, Nicole Perugini Stadtlober, Lorena Flor da Rosa Franchi Santos, Tamires Flauzino, Fabiano Aparecido de Medeiros, Marcelo Cândido de Sá, Luana Consentin, Edna Maria Vissoci Reiche, Michael Maes, Isaias Dichi
This study investigated nitro-oxidative stress in patients with systemic lupus erythematosus (SLE) in association with disease activity, immune-inflammatory biomarkers, and adhesion molecules. Two-hundred-four patients with SLE and 256 healthy volunteers were enrolled in this case-control study, which measured nitro-oxidative stress biomarkers, including lipid peroxides (LOOH), advanced oxidation protein products (AOPPs), nitric oxide metabolites (NOx), sulfhydryl (-SH) groups, products of deoxyribonucleic acid (DNA)/ribonucleic acid (RNA) oxidative degradation, and total radical-trapping anti-oxidant parameter (TRAP)...
November 29, 2017: Immunologic Research
https://www.readbyqxmd.com/read/29183634/group-6-modalities-and-frequency-of-monitoring-of-patients-with-adrenal-insufficiency-patient-education
#11
Laurence Guignat, Emmanuelle Proust-Lemoine, Yves Reznik, Delphine Zenaty
Patients with adrenal insufficiency require regular, specialised monitoring in order to optimise their replacement therapy, to detect signs of under- and over-dosage, and to examine for possible associated disorders (auto-immune disorders in the case of auto-immune primary adrenal insufficiency either isolated or as part of auto-immune polyendocrinopathy syndrome type 1; illnesses with underlying monogenic causes). The transition period between adolescence and adulthood represents an added risk of a breakdown in monitoring which requires particular attention from medical teams and coordination between adult and pediatric medical teams...
November 25, 2017: Annales D'endocrinologie
https://www.readbyqxmd.com/read/29182677/arabidopsis-ubiquitin-ligase-pub12-interacts-with-and-negatively-regulates-chitin-elicitor-receptor-kinase-1-cerk1
#12
Koji Yamaguchi, Hirohisa Mezaki, Masayuki Fujiwara, Yuki Hara, Tsutomu Kawasaki
In Arabidopsis, fungal chitin is recognized as a pathogen-associated molecular pattern (PAMP) by the chitin receptor complex containing the lysin-motif (LysM) receptor-like kinases CERK1 and LYK5. Upon the perception of chitin, CERK1 phosphorylates the receptor-like cytoplasmic kinase, PBL27, which activates the intracellular mitogen-activated protein kinase (MAPK) cascade. However, the mechanisms by which the CERK1-PBL27 complex is regulated remain largely unknown. We identified ubiquitin ligase PUB12 as a component of the PBL27 complex using co-immunoprecipitation and mass spectrometry...
2017: PloS One
https://www.readbyqxmd.com/read/29181134/a-nine-month-old-boy-with-atypical-hemophagocytic-lymphohistiocytosis
#13
Monia Ouederni, Monia Ben Khaled, Samia Rekaya, Ilhem Ben Fraj, Fethi Mellouli, Mohamed Bejaoui
Hemophagocytic lymphohistiocytosis (HLH) is a life-threatening hyperinflammation caused by uncontrolled proliferation of activated lymphocytes and histiocytes. Often, HLH is an acquired syndrome. We report a case of a nine month-old-boy presented with hepatosplenomegaly, severe anemia, thrombocytopenia, hypertriglyceridemia and high hyperferritinemia. These clinical features of HLH prompted a wide range of infectious and auto-immune tests to be performed. After an extensive diagnostic workup, he was referred to the immune-hematologic unit for HLH suspicion with an unknown cause...
2017: Mediterranean Journal of Hematology and Infectious Diseases
https://www.readbyqxmd.com/read/29178661/quantification-of-classical-hla-class-i-mrna-by-allele-specific-real-time-polymerase-chain-reaction-for-most-han-individuals
#14
N Pan, S Lu, W Wang, F Miao, H Sun, S Wu, D Nan, J Qiu, J Xu, J Zhang
Recent studies have shown that expression levels of different alleles at the same HLA class I locus can vary dramatically, which might have a broad influence on human disease. However, precise quantification of the relative expression level of each HLA allele is challenging because distinguishing different alleles on the same locus is difficult. Here, we developed a series of allele-specific real-time PCR assays for quantifying HLA class I allele mRNA in most Han individuals. The alleles of almost all heterozygous genotypes with a frequency higher than 0...
November 25, 2017: HLA
https://www.readbyqxmd.com/read/29174931/group%C3%A2-1-epidemiology-of-primary-and-secondary-adrenal-insufficiency-prevalence-and-incidence-acute-adrenal-insufficiency-long-term-morbidity-and-mortality
#15
Olivier Chabre, Bernard Goichot, Delphine Zenaty, Jérôme Bertherat
The prevalence of primary adrenal insufficiency is estimated at between 82-144/million, with auto-immunity being the most common cause in adults and genetic causes, especially enzyme defects, being the most common cause in children. The prevalence of secondary adrenal deficiency is estimated to be between 150-280/million. The most frequent occurrence is believed to be corticosteroid-induced insufficiency, despite the incidence of clinically relevant deficiency after cessation of glucocorticoid treatment being widely debated...
November 23, 2017: Annales D'endocrinologie
https://www.readbyqxmd.com/read/29172358/the-immune-system-basis-of-so-much-health-and-disease-3-adaptive-immunity
#16
Crispian Scully, Eleni A Georgakopoulou, Yazan Hassona
The immune system is the body’s primary defence mechanism against infections, and disturbances in the system can cause disease if the system fails in defence functions (in immunocompromised people), or if the activity is detrimental to the host (as in auto-immune and auto-inflammatory states). A healthy immune system is also essential to normal health of dental and oral tissues. This series presents the basics for the understanding of the immune system; this article covers adaptive immunity. Clinical relevance: Dental clinicians need a basic understanding of the immune system as it underlies health and disease...
April 2017: Dental Update
https://www.readbyqxmd.com/read/29172336/the-immune-system-basis-of-so-much-health-and-disease-2-innate-immunity
#17
Crispian Scully, Eleni A Georgakopoulou, Yazan Hassona
The immune system is the body’s primary defence mechanism against infections, and disturbances in the system can cause disease if the system fails in defence functions (in immunocompromised people), or if the activity is detrimental to the host (as in auto-immune and auto-inflammatory states). A healthy immune system is also essential to normal health of dental and oral tissues. This series presents the basics for the understanding of the immune system, this article covering innate immunity. Clinical relevance: Modern dental clinicians need a basic understanding of the immune system as it underlies health and disease...
March 2017: Dental Update
https://www.readbyqxmd.com/read/29170852/t-cell-subsets-an-integral-component-in-pathogenesis-of-rheumatic-heart-disease
#18
REVIEW
Devinder Toor, Neha Sharma
Acute rheumatic fever (ARF) is a consequence of pharyngeal infection of group A streptococcal (GAS) infection. Carditis is the most common manifestation of ARF which occurs in 30-45% of the susceptible individuals. Overlooked ARF cases might further progress towards rheumatic heart disease (RHD) in susceptible individuals, which ultimately leads to permanent heart valve damage. Molecular mimicry between streptococcal antigens and human proteins is the most widely accepted theory to describe the pathogenesis of RHD...
November 23, 2017: Immunologic Research
https://www.readbyqxmd.com/read/29170665/canonical-stimulation-of-the-nlrp3-inflammasome-by-fungal-antigens-links-innate-and-adaptive-b-lymphocyte-responses-by-modulating-il-1%C3%AE-and-igm-production
#19
Mohamed F Ali, Harika Dasari, Virginia P Van Keulen, Eva M Carmona
The NLRP3 inflammasome is activated in response to different bacterial, viral, and fungal pathogens and serves as modulator of different pattern recognition receptors signaling pathways. One of the main functions of NLRP3 is to participate in IL-1β maturation which is important in the host defense against Pneumocystis and other fungal infections. However, dysregulation of NLRP3 and IL-1β secretion are also implicated in the pathophysiology of many auto-inflammatory disorders. Often time's inflammatory flares are preceded by infectious illnesses questioning the role of infection in autoimmune exacerbations...
2017: Frontiers in Immunology
https://www.readbyqxmd.com/read/29170024/exploiting-a-water-network-to-achieve-enthalpy-driven-bromodomain-selective-bet-inhibitors
#20
William R Shadrick, Peter J Slavish, Sergio C Chai, Brett Waddell, Michele Connelly, Jonathan A Low, Cynthia Tallant, Brandon M Young, Nagakumar Bharatham, Stefan Knapp, Vincent A Boyd, Marie Morfouace, Martine F Roussel, Taosheng Chen, Richard E Lee, R Kiplin Guy, Anang A Shelat, Philip M Potter
Within the last decade, the Bromodomain and Extra-Terminal domain family (BET) of proteins have emerged as promising drug targets in diverse clinical indications including oncology, auto-immune disease, heart failure, and male contraception. The BET family consists of four isoforms (BRD2, BRD3, BRD4, and BRDT/BRDT6) which are distinguished by the presence of two tandem bromodomains (BD1 and BD2) that independently recognize acetylated-lysine (KAc) residues and appear to have distinct biological roles. BET BD1 and BD2 bromodomains differ at five positions near the substrate binding pocket: the variation in the ZA channel induces different water networks nearby...
November 4, 2017: Bioorganic & Medicinal Chemistry
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