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https://www.readbyqxmd.com/read/28197772/-genetics-of-cryopyrin-associated-periodic-syndrome
#1
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/28191008/the-nlrp3-and-pyrin-inflammasomes-implications-in-the-pathophysiology-of-autoinflammatory-diseases
#2
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/28154172/metabolic-alterations-contribute-to-enhanced-inflammatory-cytokine-production-in-irgm1-deficient-macrophages
#3
Elyse A Schmidt, Brian E Fee, Stanley C Henry, Amanda G Nichols, Mari L Shinohara, Jeffrey C Rathmell, Nancie J MacIver, Jörn Coers, Olga R Ilkayeva, Timothy R Koves, Gregory A Taylor
The Immunity-Related GTPases (IRG) are a family of proteins that are induced by interferon (IFN)-gamma and play pivotal roles in immune and inflammatory responses. IRGs ostensibly function as dynamin-like proteins that bind to intracellular membranes, and promote remodeling and trafficking of those membranes. Prior studies have shown that loss of Irgm1 in mice leads to increased lethality to bacterial infections, as well as enhanced inflammation to non-infectious stimuli; however, the mechanisms underlying these phenotypes are unclear...
February 1, 2017: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/28142321/understanding-human-autoimmunity-and-autoinflammation-through-transcriptomics
#4
Romain Banchereau, Alma-Martina Cepika, Jacques Banchereau, Virginia Pascual
Transcriptomics, the high-throughput characterization of RNAs, has been instrumental in defining pathogenic signatures in human autoimmunity and autoinflammation. It enabled the identification of new therapeutic targets in IFN-, IL-1- and IL-17-mediated diseases. Applied to immunomonitoring, transcriptomics is starting to unravel diagnostic and prognostic signatures that stratify patients, track molecular changes associated with disease activity, define personalized treatment strategies, and generally inform clinical practice...
January 30, 2017: Annual Review of Immunology
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
#5
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/28115215/damaging-heterozygous-mutations-in-nfkb1-lead-to-diverse-immunological-phenotypes
#6
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/27998728/il-1%C3%AE-and-caspase-1-drive-autoinflammatory-disease-independently-of-il-1%C3%AE-or-caspase-8-in-a-mouse-model-of-familial-mediterranean-fever
#7
Deepika Sharma, Bhesh Raj Sharma, Peter Vogel, Thirumala-Devi Kanneganti
Mutations in the gene encoding pyrin are associated with autoinflammatory disorder Familial Mediterranean Fever (FMF). A FMF-knock-in mouse strain that expresses chimeric pyrin protein with a V726A mutation (Mefv(V726A/V726A)) was generated to model human FMF. This mouse strain shows an autoinflammatory disorder that is prevented by genetic deletion of IL-1 (IL-1) receptor or apoptosis-associated speck-like protein containing a caspase activation and recruitment domain (ASC). ASC-mediated cell death leads to the release of IL-1α and IL-1β, both of which signal through IL-1 receptor...
February 2017: American Journal of Pathology
https://www.readbyqxmd.com/read/27997058/inflammasome-activation-in-multiple-sclerosis-and-experimental-autoimmune-encephalomyelitis-eae
#8
William Barclay, Mari L Shinohara
The aptly named inflammasomes are powerful signaling complexes that sense inflammatory signals under a myriad of conditions, including those from infections and endogenous sources. The inflammasomes promote inflammation by maturation and release of the pro-inflammatory cytokines, IL-1β and IL-18. Several inflammasomes have been identified so far, but this review focuses mainly on the NLRP3 inflammasome. By still ill-defined activation mechanisms, a sensor molecule, NLRP3 (NACHT, LRR and PYD domains-containing protein 3), responds to danger signals and rapidly recruits ASC (apoptosis-associated speck-like protein containing a CARD) and pro-caspase-1 to form a large oligomeric signaling platform-the inflammasome...
March 2017: Brain Pathology
https://www.readbyqxmd.com/read/27994174/evidence-of-digenic-inheritance-in-autoinflammation-associated-genes
#9
Vassos Neocleous, Stefania Byrou, Meropi Toumba, Constantina Costi, Christos Shammas, Christina Kyriakou, Violetta Christophidou-Anastasiadou, George A Tanteles, Adamos Hadjipanayis, Leonidas A Phylactou
Familial Mediterranean fever (FMF) has traditionally been considered as a monogenic autosomal recessive disorder caused by mutations in the MEFV gene with highest incidence among Mediterranean populations. In a considerable number of patients with typical FMF, only one MEFV mutation was identified and the possibility that more than one autoinflammatory gene may be responsible for their disease was investigated. In the present study, an extensive search for possible mutations in three hereditary recurrent fever (HRF) genes was performed in 128 MEFV heterozygous Greek-Cypriots clinically diagnosed based on their phenotype with FMF-like disease from a previous study...
December 2016: Journal of Genetics
https://www.readbyqxmd.com/read/27994071/autoinflammatory-periodic-fever-immunodeficiency-and-thrombocytopenia-pfit-caused-by-mutation-in-actin-regulatory-gene-wdr1
#10
Ariane S I Standing, Dessislava Malinova, Ying Hong, Julien Record, Dale Moulding, Michael P Blundell, Karolin Nowak, Hannah Jones, Ebun Omoyinmi, Kimberly C Gilmour, Alan Medlar, Horia Stanescu, Robert Kleta, Glenn Anderson, Sira Nanthapisal, Sonia Melo Gomes, Nigel Klein, Despina Eleftheriou, Adrian J Thrasher, Paul A Brogan
The importance of actin dynamics in the activation of the inflammasome is becoming increasingly apparent. IL-1β, which is activated by the inflammasome, is known to be central to the pathogenesis of many monogenic autoinflammatory diseases. However, evidence from an autoinflammatory murine model indicates that IL-18, the other cytokine triggered by inflammasome activity, is important in its own right. In this model, autoinflammation was caused by mutation in the actin regulatory gene WDR1 We report a homozygous missense mutation in WDR1 in two siblings causing periodic fevers with immunodeficiency and thrombocytopenia...
January 2017: Journal of Experimental Medicine
https://www.readbyqxmd.com/read/27965258/a-new-autoinflammatory-and-autoimmune-syndrome-associated-with-nlrp1-mutations-naiad-nlrp1-associated-autoinflammation-with-arthritis-and-dyskeratosis
#11
Sylvie Grandemange, Elodie Sanchez, Pascale Louis-Plence, Frédéric Tran Mau-Them, Didier Bessis, Christine Coubes, Eric Frouin, Marieke Seyger, Manon Girard, Jacques Puechberty, Valérie Costes, Michel Rodière, Aurélia Carbasse, Eric Jeziorski, Pierre Portales, Guillaume Sarrabay, Michel Mondain, Christian Jorgensen, Florence Apparailly, Esther Hoppenreijs, Isabelle Touitou, David Geneviève
OBJECTIVES: Inflammasomes are multiprotein complexes that sense pathogens and trigger biological mechanisms to control infection. Nucleotide-binding oligomerisation domain-like receptor (NLR) containing a PYRIN domain 1 (NLRP1), NLRP3 and NLRC4 plays a key role in this innate immune system by directly assembling in inflammasomes and regulating inflammation. Mutations in NLRP3 and NLRC4 are linked to hereditary autoinflammatory diseases, whereas polymorphisms in NLRP1 are associated with autoimmune disorders such as vitiligo and rheumatoid arthritis...
December 13, 2016: Annals of the Rheumatic Diseases
https://www.readbyqxmd.com/read/27943240/autoinflammation-in-pyoderma-gangrenosum-and-its-syndromic-form-pash
#12
A Marzano, G Damiani, I Ceccherini, E Berti, M Gattorno, M Cugno
BACKGROUND: Pyoderma gangrenosum (PG) is a rare skin disease characterized clinically by ulcers with undermined borders, and histologically by neutrophil-rich infitrates. PG may occur alone, in syndromic forms or associated with systemic diseases as inflammatory bowel diseases and hematological or rheumatological disorders. OBJECTIVES: Although some autoinflammatory diseases present with PG, to date, a specific genetic background related to autoinflammation has not been proven for PG...
December 10, 2016: British Journal of Dermatology
https://www.readbyqxmd.com/read/27943079/assessment-of-type-i-interferon-signaling-in-pediatric-inflammatory-disease
#13
Gillian I Rice, Isabelle Melki, Marie-Louise Frémond, Tracy A Briggs, Mathieu P Rodero, Naoki Kitabayashi, Anthony Oojageer, Brigitte Bader-Meunier, Alexandre Belot, Christine Bodemer, Pierre Quartier, Yanick J Crow
PURPOSE: Increased type I interferon is considered relevant to the pathology of a number of monogenic and complex disorders spanning pediatric rheumatology, neurology, and dermatology. However, no test exists in routine clinical practice to identify enhanced interferon signaling, thus limiting the ability to diagnose and monitor treatment of these diseases. Here, we set out to investigate the use of an assay measuring the expression of a panel of interferon-stimulated genes (ISGs) in children affected by a range of inflammatory diseases...
December 9, 2016: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/27928156/autoinflammation-anakinra-effective-for-resistant-fmf-in-rct
#14
Sarah Onuora
No abstract text is available yet for this article.
January 2017: Nature Reviews. Rheumatology
https://www.readbyqxmd.com/read/27906774/lessons-from-characterization-and-treatment-of-the-autoinflammatory-syndromes
#15
Ivona Aksentijevich, Michael F McDermott
PURPOSE OF REVIEW: The list of genes associated with systemic inflammatory diseases has been steadily growing because of the explosion of new genomic technologies. Significant advances in the past year have deepened our understanding of the molecular mechanisms linked to inflammation and elucidated insights on the efficacy of specific therapies for these and related conditions. We review the molecular pathogenesis of four recently characterized monogenic autoinflammatory diseases: haploinsufficiency of A20, otulipenia, a severe form of pyrin-associated disease, and a monogenic form of systemic juvenile idiopathic arthritis...
March 2017: Current Opinion in Rheumatology
https://www.readbyqxmd.com/read/27905098/are-neutrophilic-dermatoses-autoinflammatory-disorders
#16
REVIEW
T K Satoh, M Mellett, E Contassot, L E French
Neutrophils constitute essential players in inflammatory responses and are the first line of defence against harmful stimuli. However, dysregulation of neutrophil homeostasis can result in excessive inflammation and subsequent tissue damage. Neutrophilic dermatoses are a spectrum of inflammatory disorders characterized by skin lesions resulting from a neutrophil-rich inflammatory infiltrate in the absence of infection. The exact molecular pathophysiology of neutrophilic dermatoses has long been poorly understood...
November 30, 2016: British Journal of Dermatology
https://www.readbyqxmd.com/read/27896634/th9-cells-in-skin-disorders
#17
REVIEW
Rachael A Clark, Christoph Schlapbach
Interleukin 9 secreting TH9 cells have been proposed as the latest addition to the family of T helper cell subsets. While a growing body of evidence from animal models points to important roles for these cells in allergic inflammation of the lung, autoinflammation of the gastrointestinal tract, and tumor immunity, their role in skin immunity and skin immunopathology remains poorly defined. Interestingly, studies of T helper cells from healthy humans suggest that TH9 cells are predominantly skin-homing and skin-resident and that they are involved in protection against extracellular pathogens...
November 28, 2016: Seminars in Immunopathology
https://www.readbyqxmd.com/read/27871068/autoinflammatory-skin-disease-a-review-of-concepts-and-applications-to-general-dermatology
#18
Aditi S Murthy, Kieron Leslie
We provide an up-to-date summary of important concepts of autoinflammation as well as describe important but rare monogenic autoinflammatory disorders that may present with cutaneous findings. Finally, of particular interest to a practicing general dermatology audience, we review concepts of autoinflammation as they apply to understanding the disease pathogenesis of common skin disorders.
2016: Dermatology: International Journal for Clinical and Investigative Dermatology
https://www.readbyqxmd.com/read/27821552/type-i-interferon-mediated-monogenic-autoinflammation-the-type-i-interferonopathies-a-conceptual-overview
#19
REVIEW
Mathieu P Rodero, Yanick J Crow
Type I interferon is a potent substance. As such, the induction, transmission, and resolution of the type I interferon-mediated immune response are tightly regulated. As defined, the type I interferonopathies represent discrete examples of a disturbance of the homeostatic control of this system caused by Mendelian mutations. Considering the complexity of the interferon response, the identification of further monogenic diseases belonging to this disease grouping seems likely, with the recognition of type I interferonopathies becoming of increasing clinical importance as treatment options are developed based on an understanding of disease pathology and innate immune signaling...
November 14, 2016: Journal of Experimental Medicine
https://www.readbyqxmd.com/read/27813875/the-type-i-interferonopathies
#20
Min Ae Lee-Kirsch
Type I interferons (IFNs) play a central role in the immune defense against viral infections. Type I IFN activation is induced by pattern-recognition receptors of the innate immune system that sense pathogen-derived nucleic acids. Cellular responses to type I IFN signaling are orchestrated by a complex network of regulatory pathways that involve both the innate and adaptive immune system. The genetic and molecular dissection of rare Mendelian disorders associated with constitutive overproduction of type I IFN has provided unique insight into cell-intrinsic disease mechanisms that initiate and sustain autoinflammation and autoimmunity and that are caused by disturbances in the intracellular nucleic acid metabolism or in cytosolic nucleic acid-sensing pathways...
January 14, 2017: Annual Review of Medicine
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