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https://www.readbyqxmd.com/read/29451047/national-survey-of-japanese-patients-with-mevalonate-kinase-deficiency-reveals-distinctive-genetic-and-clinical-characteristics
#1
Takayuki Tanaka, Kohei Yoshioka, Ryuta Nishikomori, Hidemasa Sakai, Junya Abe, Yuriko Yamashita, Ryugo Hiramoto, Akira Morimoto, Eiichi Ishii, Hirokazu Arakawa, Utako Kaneko, Yusei Ohshima, Nami Okamoto, Osamu Ohara, Ikue Hata, Yosuke Shigematsu, Tomoki Kawai, Takahiro Yasumi, Toshio Heike
OBJECTIVES: Mevalonate kinase deficiency (MKD), a rare autosomal recessive autoinflammatory syndrome, is caused by disease-causing variants of the mevalonate kinase gene. A national survey was undertaken to investigate clinical and genetic features of MKD patients in Japan. METHODS: The survey identified ten patients with MKD. Clinical information and laboratory data were collected from medical records and by direct interviews with patients, their families, and their attending physicians...
February 16, 2018: Modern Rheumatology
https://www.readbyqxmd.com/read/29447652/pyoderma-gangrenosum-acne-and-suppurative-hidradenitis-syndrome-in-end-stage-renal-disease-successfully-treated-with-adalimumab
#2
J De Wet, H F Jordaan, S M Kannenberg, B Tod, B Glanzmann, W I Visser
PASH syndrome (pyoderma gangrenosum, acne, and suppurative hidradenitis) forms part of the spectrum of autoinflammatory diseases. We report an unusual case of PASH syndrome in a patient with end-stagerenal disease (ESRD) who was successfully treated with the tumor necrosis factor inhibitor, adalimumab. The case underscores the challenges associatedwith the treatment of PASH syndrome as well as the ongoing search to establish a genetic basis for the syndrome. Renal impairment has been reported in association with pyoderma gangrenosum but has notbeen described in PASH syndrome...
December 15, 2017: Dermatology Online Journal
https://www.readbyqxmd.com/read/29447637/crohn-disease-associated-neutrophilic-urticarial-dermatosis-report-and-literature-review-of-neutrophilic-urticarial-dermatosis
#3
Zhe Hou, Brian R Hinds, Philip R Cohen
Neutrophilic urticarial dermatosis (NUD) is a useful diagnostic term for urticarial lesions that are less pruritic and more painful than conventional urticaria. The histopathologic features include neutrophilic infiltrates in the interstitial dermis with a higher density than idiopathic urticaria. NUD has been associated with several systemic conditions, which are predominantly autoimmune and autoinflammatory in nature. A woman with Crohn disease who developed NUD is described. Literature reports of other conditions in which neutrophilic urticarial dermatosis have been observed are also reviewed and summarized...
November 15, 2017: Dermatology Online Journal
https://www.readbyqxmd.com/read/29442258/evaluation-of-the-effects-of-mirnas-in-familial-mediterranean-fever
#4
Hacer Orsdemir Hortu, Emin Karaca, Betul Sozeri, Nesrin Gulez, Balahan Makay, Cumhur Gunduz, Tahir Atik, Ismihan Merve Tekin, Sevket Erbil Unsal, Cogulu Ozgur
Familial Mediterranean fever (FMF) is an inherited autoinflammatory disorder that can result in attacks with accompanying recurrent episodes of fever, serositis, and skin rash. MiRNAs are demonstrated to be associated with a number of other diseases; however, no comprehensive study has revealed its association with FMF disease. The aim is to investigate the role of microRNAs in FMF. We included 51 patients with genetically diagnosed FMF who had clinical symptoms and 49 healthy volunteers. Fifteen miRNAs that were found to be associated with autoinflammatory diseases and have a part in immune response were evaluated...
February 13, 2018: Clinical Rheumatology
https://www.readbyqxmd.com/read/29434599/rna-seq-analysis-of-il-1b-and-il-36-responses-in-epidermal-keratinocytes-identifies-a-shared-myd88-dependent-gene-signature
#5
William R Swindell, Maria A Beamer, Mrinal K Sarkar, Shannon Loftus, Joseph Fullmer, Xianying Xing, Nicole L Ward, Lam C Tsoi, Michelle J Kahlenberg, Yun Liang, Johann E Gudjonsson
IL-36 cytokines have recently emerged as mediators of inflammation in autoimmune conditions including psoriasis vulgaris (PsV) and generalized pustular psoriasis (GPP). This study used RNA-seq to profile the transcriptome of primary epidermal keratinocytes (KCs) treated with IL-1B, IL-36A, IL-36B, or IL-36G. We identified some early IL-1B-specific responses (8 h posttreatment), but nearly all late IL-1B responses were replicated by IL-36 cytokines (24 h posttreatment). Type I and II interferon genes exhibited time-dependent response patterns, with early induction (8 h) followed by no response or repression (24 h)...
2018: Frontiers in Immunology
https://www.readbyqxmd.com/read/29431217/the-role-of-mast-cells-in-autoinflammation
#6
REVIEW
Hanna Bonnekoh, Jörg Scheffel, Naotomo Kambe, Karoline Krause
The concept of autoinflammation was proposed to define a new class of immune disorders categorized by self-directed inflammation that is driven via activation of innate immune pathways. Within innate immunity, inflammasomes serve as intracellular signaling platforms to endogenous danger molecules and pathogens. Their key function is the cleavage of pro-interleukin-1β (pro-IL-1β) into its active form to promote inflammation and programmed cell death. A growing number of inflammasome sensors were described, among which NLR family pyrin domain containing 3 (NLRP3) is the best-studied sensor...
March 2018: Immunological Reviews
https://www.readbyqxmd.com/read/29426067/neutrophils-in-systemic-onset-juvenile-idiopathic-arthritis-display-sepsis-like-features-which-can-be-reverted-by-il-1-blockade
#7
Nienke M Ter Haar, Tamar Tak, Michal Mokry, Rianne C Scholman, Jenny M Meerding, Wilco de Jager, Anouk Verwoerd, Dirk Foell, Thomas Vogl, Johannes Roth, Pieter H C Leliefeld, Jorg van Loosdregt, Leo Koenderman, Sebastiaan J Vastert, Sytze de Roock
OBJECTIVE: Neutrophils are the most abundant innate immune cells in the blood, however little is known about their role in (acquired) chronic autoinflammatory diseases. We investigated neutrophils in systemic onset Juvenile Idiopathic Arthritis (sJIA), a prototypical multifactorial autoinflammatory disease, characterized by arthritis and severe systemic inflammation. METHODS: We analyzed 50 sJIA patients at disease onset and during remission on recombinant IL-1 receptor antagonist (rIL-1RA, anakinra)...
February 9, 2018: Arthritis & Rheumatology
https://www.readbyqxmd.com/read/29422292/autoinflammatory-keratinization-diseases-an-emerging-concept-encompassing-various-inflammatory-keratinization-disorders-of-the-skin
#8
Masashi Akiyama, Takuya Takeichi, John A McGrath, Kazumitsu Sugiura
Classifying inflammatory skin diseases is challenging, especially for the expanding group of disorders triggered by genetic factors resulting in hyperactivated innate immunity that result in overlapping patterns of dermal and epidermal inflammation with hyperkeratosis. For such conditions, the umbrella term "autoinflammatory keratinization diseases" (AIKD) has been proposed. AIKD encompasses diseases with mixed pathomechanisms of autoinflammation and autoimmunity, and includes IL-36 receptor antagonist (IL-36Ra)-related pustulosis, CARD14-mediated pustular psoriasis, pityriasis rubra pilaris (PRP) type V, and familial keratosis lichenoides chronica (KLC)...
February 1, 2018: Journal of Dermatological Science
https://www.readbyqxmd.com/read/29422240/screen-detected-gallstone-disease-and-autoimmune-diseases-a-cohort-study
#9
Daniel Mønsted Shabanzadeh, Allan Linneberg, Tea Skaaby, Lars Tue Sørensen, Torben Jørgensen
BACKGROUND: Gallstone disease is highly prevalent and is associated with systemic inflammation. AIMS: To determine whether screen-detected gallstones or cholecystectomy are associated with the occurrence of autoimmune and autoinflammatory diseases and the most common subgroups thereof. METHODS: A cohort study of three randomly selected general population samples from Copenhagen was performed. Participants (n = 5928) were examined in the period 1982-1992, underwent abdominal ultrasound examination to detect gallstone disease, and followed through national registers until December 2014 (median 24...
January 31, 2018: Digestive and Liver Disease
https://www.readbyqxmd.com/read/29417219/robust-identification-of-mosaic-variants-in-congenital-heart-disease
#10
Kathryn B Manheimer, Felix Richter, Lisa J Edelmann, Sunita L D'Souza, Lisong Shi, Yufeng Shen, Jason Homsy, Marko T Boskovski, Angela C Tai, Joshua Gorham, Christopher Yasso, Elizabeth Goldmuntz, Martina Brueckner, Richard P Lifton, Wendy K Chung, Christine E Seidman, J G Seidman, Bruce D Gelb
Mosaicism due to somatic mutations can cause multiple diseases including cancer, developmental and overgrowth syndromes, neurodevelopmental disorders, autoinflammatory diseases, and atrial fibrillation. With the increased use of next generation sequencing technology, multiple tools have been developed to identify low-frequency variants, specifically from matched tumor-normal tissues in cancer studies. To investigate whether mosaic variants are implicated in congenital heart disease (CHD), we developed a pipeline using the cancer somatic variant caller MuTect to identify mosaic variants in whole-exome sequencing (WES) data from a cohort of parent/affected child trios (n = 715) and a cohort of healthy individuals (n = 416)...
February 7, 2018: Human Genetics
https://www.readbyqxmd.com/read/29406827/pyoderma-gangrenosum-a-review-of-pathogenesis-and-treatment
#11
Christine Ahn, Deborah Negus, William Huang
Pyoderma gangrenosum (PG) is a complex neutrophilic dermatosis that can occur as an idiopathic disease, in association with systemic conditions such as inflammatory bowel disease, as part of an inherited inflammatory syndrome. It can be challenging to treat, as it occurs in a wide variety of clinical settings and there is a lack of a standardized treatment approach. The main limitations to treatment have been an incomplete understanding of the pathogenesis. However, recent advances have been made in understanding the pathogenesis of this condition, and PG is now considered an autoinflammatory disease process...
February 6, 2018: Expert Review of Clinical Immunology
https://www.readbyqxmd.com/read/29401118/how-does-abatacept-really-work-in-rheumatoid-arthritis
#12
Michael Bonelli, Clemens Scheinecker
PURPOSE OF REVIEW: The purpose of this review is to summarize the current knowledge concerning the mechanisms of action of Abatacept in patients with rheumatoid arthritis. RECENT FINDINGS: Abatacept (CTLA-4Ig) represents a soluble, recombinant, fully humanized fusion protein, comprising the extracellular domain of CTLA-4 and the Fc portion of IgG1. Abatacept binds to the costimulatory molecules CD80 and CD86 on antigen-presenting cells (APC), thereby blocking interaction with CD28 on T cells...
February 3, 2018: Current Opinion in Rheumatology
https://www.readbyqxmd.com/read/29393966/lack-of-clear-and-univocal-genotype-phenotype-correlation-in-familial-mediterranean-fever-patients-a-systematic-review
#13
REVIEW
Sebastiano Gangemi, Sara Manti, Vincenzo Procopio, Marco Casciaro, Eleonora Di Salvo, Mariaconcetta Cutrupi, Gloria Ganci, Carmelo Salpietro, Roberto Chimenz, Caterina Cuppari
Familial Mediterranean fever (FMF) is the most common autosomal recessive autoinflammatory disease. To date, following the isolation of more than 280 MEFV sequence variants, the genotype-phenotype correlation in FMF patients has been intensively investigated, however, an univocal and clear consensus has not been yet reached. Thus, the aim of this systematic review was to analyse the available literature findings in order to provide to scientific community an indirect estimation of the impact of genetic factors on the phenotypic variability of FMF...
February 2, 2018: Clinical Genetics
https://www.readbyqxmd.com/read/29386593/autoinflammatory-diseases-free-il-18-causes-macrophage-activation-syndrome
#14
Liesbet Lieben
No abstract text is available yet for this article.
February 1, 2018: Nature Reviews. Rheumatology
https://www.readbyqxmd.com/read/29382608/metabolic-syndrome-autoimmunity-and-rheumatic-diseases
#15
REVIEW
Gabriela Medina, Olga Vera-Lastra, Ana Lilia Peralta-Amaro, María Pilar Jiménez-Arellano, Miguel Angel Saavedra, María Pilar Cruz-Domínguez, Luis J Jara
Metabolic syndrome (MetS) is a cluster of metabolic and cardiovascular (CV) risk factors including obesity and visceral adiposity, insulin resistance, dyslipidemia and hypertension contributing to CV mortality. The interface between the metabolic and immune systems has been of great interest recently. These interactions are regulated through genetics, nutritional status, and the intestinal microbiome. Alterations in the immune-metabolic cross-talk contribute to the development of autoimmune diseases. Adipokines exert a variety of metabolic activities contributing to the ethiopathogenesis of MetS and are involved in the regulation of both inflammatory processes and autoimmunity occurring in rheumatic diseases...
January 27, 2018: Pharmacological Research: the Official Journal of the Italian Pharmacological Society
https://www.readbyqxmd.com/read/29382023/case-report-remarkable-remission-of-sapho-syndrome-in-response-to-tripterygium-wilfordii-hook-f-treatment
#16
Chen Li, Xiaochuan Sun, Yihan Cao, Wenrui Xu, Wen Zhang, Zhenhua Dong
RATIONALE: SAPHO (synovitis, acne, pustulosis, hyperostosis, and osteitis) syndrome is an autoinflammatory disease with no standardized treatment. Tripterygium wilfordii hook f (TwHF) is a Chinese herb with immunosuppressive effects and has been used to treat some chronic inflammatory diseases. However, it has not been reported as a therapeutic option in SAPHO syndrome. Here we present the first report in which a remarkable remission of SAPHO syndrome was achieved in response to TwHF...
November 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29380349/acne-and-hidradenitis-suppurativa
#17
REVIEW
A Pink, F Anzengruber, A A Navarini
Acne and hidradenitis suppurativa (HS) both centre on hair follicles. They often occur together as part of the acne tetrad, but are found in distinct localizations. Acne is primarily defined by the presence of comedones and inflammatory lesions. However, in HS the intertriginous localization and chronicity play equally important roles for the diagnosis to the inflammatory lesions. Genetics, bacteria, environmental factors and innate inflammation have all been found to play a role in acne and/or HS. Surprisingly, there is little overlap between the findings so far...
January 30, 2018: British Journal of Dermatology
https://www.readbyqxmd.com/read/29377242/an-update-on-cell-intrinsic-negative-regulators-of-the-nlrp3-inflammasome
#18
REVIEW
Barun Poudel, Prajwal Gurung
Inflammasomes are multimeric protein complexes that promote inflammation (through specific cleavage and production of bioactive IL-1β and IL-18) and pyroptotic cell death. The central role of inflammasomes in combating infection and maintaining homeostasis has been studied extensively. Although inflammasome-mediated inflammation and cell death are vital to limit pathogenic insults and to promote wound healing/tissue regeneration, unchecked/uncontrolled inflammation, and cell death can cause cytokine storm, tissue damage, autoinflammatory and autoimmune diseases, and even death in the afflicted individuals...
January 26, 2018: Journal of Leukocyte Biology
https://www.readbyqxmd.com/read/29369915/potential-role-of-type-i-interferon-in-the-pathogenic-process-leading-to-type-1-diabetes
#19
Natasha Qaisar, Agata Jurczyk, Jennifer P Wang
PURPOSE OF REVIEW: Understanding the relationship between viral infections and the development of type 1 diabetes (T1D) is essential for T1D prevention. Virus-induced innate immune responses, specifically type I interferon (IFN-I) and the IFN gene signature, orchestrate early events of β-cell dysfunction preceding islet autoimmunity. We summarize recent advances in how IFN-I and the IFN gene signature can drive T1D development. RECENT FINDINGS: IFN-I, particularly IFN-α, and the IFN gene signature have been detected in islets and peripheral blood of T1D patients...
January 24, 2018: Current Opinion in Endocrinology, Diabetes, and Obesity
https://www.readbyqxmd.com/read/29366613/keratoendotheliitis-fugax-hereditaria-a-novel-cryopyrin-associated-periodic-syndrome-caused-by-a-mutation-in-the-nucleotide-binding-domain-leucine-rich-repeat-family-pyrin-domain-containing-3-nlrp3-gene
#20
Joni A Turunen, Juho Wedenoja, Pauliina Repo, Reetta-Stiina Järvinen, Johannes E Jäntti, Sanna Mörtenhumer, Antti S Riikonen, Anna-Elina Lehesjoki, Anna Majander, Tero T Kivelä
PURPOSE: To describe the phenotype and the genetic defect in keratoendotheliitis fugax hereditaria, an autosomal dominant keratitis that periodically affects the corneal endothelium and stroma, leading in some patients to opacities and decreased visual acuity. DESIGN: Cross-sectional, hospital-based study. METHODS: Patient population: Thirty affected and 7 unaffected subjects from 7 families, and 4 sporadic patients from Finland. OBSERVATION PROCEDURES: Ophthalmic examination and photography, corneal topography, specular microscopy and optical coherence tomography in 34 patients, whole exome sequencing in 10 patients, and Sanger sequencing in 34 patients...
January 20, 2018: American Journal of Ophthalmology
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