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Autoinflammatory disease

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https://www.readbyqxmd.com/read/28214100/nlrp6-a-multifaceted-innate-immune-sensor
#1
REVIEW
Maayan Levy, Hagit Shapiro, Christoph A Thaiss, Eran Elinav
NLRP6, a member of the nucleotide-binding domain, leucine-rich repeat-containing (NLR) innate immune receptor family, regulates inflammation and host defense against microorganisms. Similar to other NLRs, NLRP6 not only participates in inflammasome formation, but is also involved in nuclear factor-κB (NF-κB) and mitogen-activated protein kinase (MAPK) signaling regulation and facilitation of gastrointestinal antiviral effector functions. Additionally, NLRP6 contributes to the regulation of mucus secretion and antimicrobial peptide production, thereby impacting intestinal microbial colonization and associated microbiome-related infectious, autoinflammatory, metabolic, and neoplastic diseases...
February 14, 2017: Trends in Immunology
https://www.readbyqxmd.com/read/28211254/egyptian-tale-from-india-application-of-whole-exome-sequencing-in-diagnosis-of-atypical-familial-mediterranean-fever
#2
Pulukool Sandhya, Shamsudheen Karuthedath Vellarikkal, Aswin Nair, Rowmika Ravi, John Mathew, Rijith Jayarajan, Anoop Kumar, Ankit Verma, Ambily Sivadas, Debashish Danda, Sridhar Sivasubbu, Vinod Scaria
Clinical diagnosis of autoinflammatory diseases requires a high degree of clinical suspicion and clinching molecular evidence to substantiate the diagnosis. This is more so in populations with low prevalence of these disorders. In this report, we describe the case of a young man from India with recurrent fever and persistent arthritis. The patient's forefathers were of Egyptian ancestry who practiced consanguinity. Molecular genetic analysis using whole-exome sequencing suggested the presence of variants c...
February 17, 2017: International Journal of Rheumatic Diseases
https://www.readbyqxmd.com/read/28197772/-genetics-of-cryopyrin-associated-periodic-syndrome
#3
REVIEW
J B Kümmerle-Deschner, P Lohse
Familial cold autoinflammatory syndrome (FCAS), Muckle-Wells syndrome (MWS) and chronic infantile neurological, cutaneous and articular syndrome/neonatal onset multisystem inflammatory disease (CINCA/NOMID) were originally described as three distinct diseases. After the identification of their common genetic origin in 2001 and 2002, they are now perceived as a continuum of one disease entity and labelled cryopyrin-associated periodic syndromes (CAPS). Mutations in the NLRP3 gene on chromosome 1q44 can be detected in many affected patients...
February 14, 2017: Zeitschrift Für Rheumatologie
https://www.readbyqxmd.com/read/28197335/caspase-8-not-so-silently-deadly
#4
REVIEW
Rebecca Feltham, James E Vince, Kate E Lawlor
Apoptosis is a caspase-dependent programmed form of cell death, which is commonly believed to be an immunologically silent process, required for mammalian development and maintenance of cellular homoeostasis. In contrast, lytic forms of cell death, such as RIPK3- and MLKL-driven necroptosis, and caspase-1/11-dependent pyroptosis, are postulated to be inflammatory via the release of damage associated molecular patterns (DAMPs). Recently, the function of apoptotic caspase-8 has been extended to the negative regulation of necroptosis, the cleavage of inflammatory interleukin-1β (IL-1β) to its mature bioactive form, either directly or via the NLRP3 inflammasome, and the regulation of cytokine transcriptional responses...
January 2017: Clinical & Translational Immunology
https://www.readbyqxmd.com/read/28196704/toll-like-receptor-4-antagonist-tak-242-inhibits-autoinflammatory-symptoms-in-ditra
#5
Akitaka Shibata, Kazumitsu Sugiura, Yasuhide Furuta, Yoshiko Mukumoto, Osamu Kaminuma, Masashi Akiyama
BACKGROUND: IL36RN encodes the IL-36 receptor antagonist (IL-36Ra), and loss-of-function mutations in IL36RN define a recessively inherited autoinflammatory disease named "deficiency of IL-36Ra" (DITRA). DITRA causes systemic autoinflammatory diseases, including generalized pustular psoriasis (GPP), an occasionally life-threatening disease that is characterized by widespread sterile pustules on the skin, fever and other systemic symptoms. GPP can present at any age, and provocative factors include various infections, medicines and pregnancy...
February 11, 2017: Journal of Autoimmunity
https://www.readbyqxmd.com/read/28196516/neurological-outcome-of-patients-with-cryopyrin-associated-periodic-syndrome-caps
#6
Nafissa Mamoudjy, Hélène Maurey, Isabelle Marie, Isabelle Koné-Paut, Kumaran Deiva
BACKGROUND: To assess the neurological involvement and outcome, including school and professional performances, of adults and children with cryopyrin-associated periodic syndrome (CAPS). METHODS: In this observational study, patients with genetically proven CAPS and followed in the national referral centre for autoinflammatory diseases at Bicêtre hospital were assessed. Neurological manifestations, CSF data and MRI results at diagnosis and during follow-up were analyzed...
February 14, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28194777/familial-mediterranean-fever-patients-with-hidradenitis-suppurativa
#7
Secil Vural, Mustafa Gundogdu, Nihal Kundakci, Thomas Ruzicka
BACKGROUND: Hidradenitis suppurativa (HS) has recently been described as a component of two autoinflammatory syndromes: PASH (pyoderma gangrenosum, acne, and HS) and PAPASH (pyoderma gangrenosum, acne, pyogenic arthritis, and HS). These associations together with others such as inflammatory bowel diseases suggest that defects in autoinflammatory pathways may play a role in the pathogenesis of HS. OBJECTIVES: To describe clinical and genetic characteristics of two unrelated patients with HS and familial Mediterranean fever (FMF)...
February 14, 2017: International Journal of Dermatology
https://www.readbyqxmd.com/read/28194697/the-diagnostic-evaluation-of-patients-with-a-suspected-hereditary-periodic-fever-syndrome-experience%C3%A2-from%C3%A2-a-referral-center-in-italy
#8
Antonio Vitale, Donato Rigante, Orso Maria Lucherini, Anna De Palma, Ida Orlando, Stefano Gentileschi, Jurgen Sota, Antonella Simpatico, Claudia Fabiani, Mauro Galeazzi, Bruno Frediani, Luca Cantarini
The study aims are to describe the activity of our Unit on the diagnostics of monogenic autoinflammatory diseases (AIDs), and to apply the clinical classification criteria for periodic fevers from the Eurofever Registry to our cohort of patients, thus evaluating their usefulness in the real life. We retrospectively analyzed data from patients referring to our Center for recurrent fever attacks, and undergoing genetic analysis between April 2014 and July 2016, and we applied the classification criteria to both genetically positive and -negative patients...
February 13, 2017: Internal and Emergency Medicine
https://www.readbyqxmd.com/read/28191008/the-nlrp3-and-pyrin-inflammasomes-implications-in-the-pathophysiology-of-autoinflammatory-diseases
#9
REVIEW
Carlos de Torre-Minguela, Pablo Mesa Del Castillo, Pablo Pelegrín
Inflammasomes are multiprotein complexes that critically control different aspects of innate and adaptive immunity. Among them we could highlight the release of pro-inflammatory cytokines that induce and maintain the inflammatory response. Usually, inflammasomes result from oligomerization of a nucleotide-binding domain-like receptor (NLR) after sensing different pathogenic or endogenous sterile dangerous signals; however, other proteins such as absent in melanoma 2, retinoic acid-inducible gene I, or pyrin could also form inflammasome platforms...
2017: Frontiers in Immunology
https://www.readbyqxmd.com/read/28186428/eosinophils-regulate-interferon-alpha-production-in-plasmacytoid-dendritic-cells-stimulated-with-components-of-neutrophil-extracellular-traps
#10
Joanna Skrzeczynska-Moncznik, Katarzyna Zabieglo, Jozef P Bossowski, Oktawia Osiecka, Agnieszka Wlodarczyk, Monika Kapinska-Mrowiecka, Mateusz Kwitniewski, Pawel Majewski, Adam Dubin, Joanna Cichy
Eosinophils constitute an important component of helminth immunity and are not only associated with various allergies but are also linked to autoinflammatory disorders, including the skin disease psoriasis. Here we demonstrate the functional relationship between eosinophils and plasmacytoid dendritic cells (pDCs) as related to skin diseases. We previously showed that pDCs colocalize with neutrophil extracellular traps (NETs) in psoriatic skin. Here we demonstrate that eosinophils are found in psoriatic skin near neutrophils and NETs, suggesting that pDC responses can be regulated by eosinophils...
February 10, 2017: Journal of Interferon & Cytokine Research
https://www.readbyqxmd.com/read/28178435/an-up-to-date-approach-to-a-patient-with-a-suspected-autoinflammatory-disease
#11
REVIEW
Merav Lidar, Eitan Giat
Autoinflammatory diseases (AID) are characterized by seemingly unprovoked self-limited attacks of fever and systemic inflammation potentially leading to amyloidosis. Familial Mediterranean fever (FMF) is the most common AID and therefore the most studied. Besides FMF, the other main hereditary AID are tumor necrosis factor-associated periodic fever syndrome (TRAPS), mevalonate kinase deficiency (MKD), and cryopyrin-associated periodic fever syndrome (CAPS). These hereditary diseases result from a mutant gene that is involved in the regulation of inflammation, resulting in a characteristic clinical phenotype...
January 30, 2017: Rambam Maimonides Medical Journal
https://www.readbyqxmd.com/read/28165841/survey-of-attitudes-of-non-pediatric-rheumatologists-among-councilors-of-the-japan-college-of-rheumatology-regarding-transitional-care
#12
Takako Miyamae, Syuji Takei, Yasuhiko Itoh, Hisashi Yamanaka
Objectives The transition from pediatric to adult healthcare systems has recently received worldwide attention. Surveys of the attitudes of Japanese non-pediatric rheumatologists regarding transitional care were conducted. Methods Non-pediatric rheumatologists among councilors of the Japan College of Rheumatology were enrolled in the surveys. Experiences of adult patients with childhood-onset rheumatic diseases, ideal medical care for these patients, and factors that made the transition to adult care difficult were examined via e-mail...
February 6, 2017: Modern Rheumatology
https://www.readbyqxmd.com/read/28165838/microarray-analysis-of-circulating-micrornas-in-familial-mediterranean-fever
#13
Taizo Wada, Tomoko Toma, Yusuke Matsuda, Akihiro Yachie, Saori Itami, Yoshihiro Taguchi, Yoshiki Murakami
OBJECTIVES: Familial Mediterranean fever (FMF) is an autoinflammatory disease caused by mutations in MEFV. Mutations in exon 10 are associated with typical FMF phenotypes, whereas the pathogenic role of variants in exons 2 and 3 remains uncertain. Recent evidence suggests that circulating microRNAs are potentially useful biomarkers in several diseases. Therefore, their expression was assessed in FMF. METHODS: The subjects were 24 patients with FMF who were between attacks: 8 with exon 10 mutations (group A), 8 with exon 3 mutations (group B), and 8 without exon 3 or 10 mutations (group C)...
February 6, 2017: Modern Rheumatology
https://www.readbyqxmd.com/read/28149656/immune-and-inflammatory-gene-expressions-are-different-in-beh%C3%A3-et-s-disease-compared-to-those-in-familial-mediterranean-fever
#14
Filiz Türe Özdemir, Emel Ekşioğlu Demiralp, Sibel Z Aydın, Pamir Atagündüz, Tülin Ergun, Haner Direskeneli
OBJECTIVE: The immune classification of Behçet's disease (BD) is still controversial. In this study, we aimed to compare the immune/inflammatory gene expressions in BD with those in familial Mediterranean fever (FMF), an autoinflammatory disorder with innate immune activation. MATERIAL AND METHODS: CD4+ T cells and CD14+ monocytes were isolated from the peripheral blood mononuclear cells of Behçet's disease patients (n=10), FMF (n=6) patients, and healthy controls (n=4) with microbeads, and then, the mRNA was isolated...
December 2016: European Journal of Rheumatology
https://www.readbyqxmd.com/read/28139336/-autoinflammatory-diseases
#15
G Grateau
No abstract text is available yet for this article.
January 27, 2017: La Revue de Médecine Interne
https://www.readbyqxmd.com/read/28137891/periodic-fever-with-aphthous-stomatitis-pharyngitis-and-cervical-adenitis-syndrome-is-associated-with-a-card8-variant-unable-to-bind-the-nlrp3-inflammasome
#16
Ming Sin Cheung, Katerina Theodoropoulou, Jérôme Lugrin, Fabio Martinon, Nathalie Busso, Michaël Hofer
Periodic fever with aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) is a relatively common autoinflammatory condition that primarily affects children. Although tendencies were reported for this syndrome, genetic variations influencing risk and disease progression are poorly understood. In this study, we performed next-generation sequencing for 82 unrelated PFAPA patients and identified a frameshift variant in the CARD8 gene (CARD8-FS). Subsequently, we compared the frequency of CARD8-FS carriers in our PFAPA cohort (13...
January 30, 2017: Journal of Immunology: Official Journal of the American Association of Immunologists
https://www.readbyqxmd.com/read/28124745/-clinical-aspects-and-genetics-of-proteasome-associated-autoinflammatory-syndromes-praas
#17
REVIEW
E Feist, A Brehm, T Kallinich, E Krüger
Functional disorders of the proteasome can have a severe impact on the innate immune system. Characterized by an autosomal recessive mode of inheritance, this novel type of interferonopathy is considered to be a spectrum of diseases of proteasome-associated autoinflammatory syndromes (PRAAS). Accumulation of ubiquitinated proteins and the induction of type I interferon (IFN) genes seem to play a role in the pathogenesis. The typical clinical manifestations are lipodystrophy, skin, joint and muscle involvement accompanied by a remarkable variability of other associated symptoms...
January 26, 2017: Zeitschrift Für Rheumatologie
https://www.readbyqxmd.com/read/28115215/damaging-heterozygous-mutations-in-nfkb1-lead-to-diverse-immunological-phenotypes
#18
Meri Kaustio, Emma Haapaniemi, Helka Göös, Timo Hautala, Giljun Park, Jaana Syrjänen, Elisabet Einarsdottir, Biswajyoti Sahu, Sanna Kilpinen, Samuli Rounioja, Christopher L Fogarty, Virpi Glumoff, Petri Kulmala, Shintaro Katayama, Fitsum Tamene, Luca Trotta, Ekaterina Morgunova, Kaarel Krjutškov, Katariina Nurmi, Kari Eklund, Anssi Lagerstedt, Merja Helminen, Timi Martelius, Satu Mustjoki, Jussi Taipale, Janna Saarela, Juha Kere, Markku Varjosalo, Mikko Seppänen
BACKGROUND: The NF-κB signaling pathway is a key regulator of immune responses. Accordingly, mutations in several NF-κB pathway genes cause immunodeficiency. OBJECTIVE: We sought to identify the cause of disease in three unrelated Finnish kindreds with variable symptoms of immunodeficiency and autoinflammation. METHODS: We applied genetic linkage analysis and next generation sequencing, and functional analyses of NFKB1 and its mutated alleles...
January 20, 2017: Journal of Allergy and Clinical Immunology
https://www.readbyqxmd.com/read/28098378/expanding-the-skin-and-histopathology-manifestations-of-autoinflammatory-diseases
#19
A Barzilai, A D Cohen
No abstract text is available yet for this article.
January 2017: British Journal of Dermatology
https://www.readbyqxmd.com/read/28094164/disorders-characterized-by-predominant-or-exclusive-dermal-inflammation
#20
Mark R Wick
Some cutaneous inflammatory disorders are typified by a predominant or exclusive localization in the dermis. They can be further subdivided by the principal cell types into lymphocytic, neutrophilic, and eosinophilic infiltrates, and mixtures of them are also seen in a proportion of cases. This review considers such conditions. Included among the lymphoid lesions are viral exanthems, pigmented purpuras, gyrate erythemas, polymorphous light eruption, lupus tumidus, and cutaneous lymphoid hyperplasia. Neutrophilic infiltrates are represented by infections, Sweet syndrome, pyoderma gangrenosum, and hidradenitis suppurativa, as well as a group of so-called "autoinflammatory" dermatitides comprising polymorphonuclear leukocytes...
December 14, 2016: Seminars in Diagnostic Pathology
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