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Autoinflammatory disorder

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https://www.readbyqxmd.com/read/28738408/cgas-surveillance-of-micronuclei-links-genome-instability-to-innate-immunity
#1
Karen J Mackenzie, Paula Carroll, Carol-Anne Martin, Olga Murina, Adeline Fluteau, Daniel J Simpson, Nelly Olova, Hannah Sutcliffe, Jacqueline K Rainger, Andrea Leitch, Ruby T Osborn, Ann P Wheeler, Marcin Nowotny, Nick Gilbert, Tamir Chandra, Martin A M Reijns, Andrew P Jackson
DNA is strictly compartmentalized within the nucleus to prevent autoimmunity; despite this, cyclic GMP-AMP synthase (cGAS), a cytosolic sensor of double-stranded DNA, is activated in autoinflammatory disorders and by DNA damage. Precisely how cellular DNA gains access to the cytoplasm remains to be determined. Here, we report that cGAS localizes to micronuclei arising from genome instability in a mouse model of monogenic autoinflammation, after exogenous DNA damage and spontaneously in human cancer cells. Such micronuclei occur after mis-segregation of DNA during cell division and consist of chromatin surrounded by its own nuclear membrane...
July 24, 2017: Nature
https://www.readbyqxmd.com/read/28722725/the-monogenic-autoinflammatory-diseases-define-new-pathways-in-human-innate-immunity-and-inflammation
#2
REVIEW
Kalpana Manthiram, Qing Zhou, Ivona Aksentijevich, Daniel L Kastner
Autoinflammatory diseases were first recognized nearly 20 years ago as distinct clinical and immunological entities caused by dysregulation in the innate immune system. Since then, advances in genomic techniques have led to the identification of new monogenic disorders and their corresponding signaling pathways. Here we review these monogenic autoinflammatory diseases, ranging from periodic fever syndromes caused by dysregulated inflammasome-mediated production of the cytokine IL-1β to disorders arising from perturbations in signaling by the transcription factor NF-κB, ubiquitination, cytokine signaling, protein folding, type I interferon production and complement activation, and we further examine their molecular mechanisms...
July 19, 2017: Nature Immunology
https://www.readbyqxmd.com/read/28718061/schnitzler-syndrome-a-review
#3
REVIEW
L Gusdorf, D Lipsker
PURPOSE OF REVIEW: We focus on recent advances in diagnosis and therapeutic strategies, as well as on pathogenesis of Schnitzler syndrome. RECENT FINDINGS: New diagnostic criteria were established, and their external validity was assessed in a retrospective cohort study. The cytokine interleukin-1 (IL-1) plays a crucial role in the pathogenesis of the Schnitzler syndrome, and this explains the spectacular efficiency of IL-1 blocking therapies. The Schnitzler syndrome is now considered as a late-onset acquired autoinflammatory syndrome in which the cytokine IL-1 plays a crucial role...
August 2017: Current Rheumatology Reports
https://www.readbyqxmd.com/read/28694138/does-type-i-interferon-drive-systemic-autoimmunity
#4
REVIEW
Cécile Picard, Alexandre Belot
Type-I interferon (IFN)-mediated immune response involves both innate and adaptive immune system and has a pivotal role in antiviral defence. A complex interplay of intracellular signaling pathways and tight regulatory systems drive the IFN activation. The observation of an aberrant stimulation of this system as a common molecular basis in peculiar inherited autoimmune and autoinflammatory disorders led to the concept of "type I interferonopathies". But the precise genetic dissection of this growing spectrum of diseases adds more and more complexity to the comprehension of this concept and a lot of unsolved questions remain such as how type I IFN can drive systemic inflammation in these clinically and genetically heterogeneous diseases...
July 7, 2017: Autoimmunity Reviews
https://www.readbyqxmd.com/read/28688013/a-comprehensive-review-of-neutrophilic-diseases
#5
REVIEW
Angelo V Marzano, Alessandro Borghi, Daniel Wallach, Massimo Cugno
Neutrophilic dermatoses are a group of conditions characterized by the accumulation of neutrophils in the skin and clinically presenting with polymorphic cutaneous lesions, including pustules, bullae, abscesses, papules, nodules, plaques and ulcers. In these disorders, the possible involvement of almost any organ system has lead to coin the term 'neutrophilic diseases'. Neutrophilic diseases have close clinicopathological similarities with the autoinflammatory diseases, which present with recurrent episodes of inflammation in the affected organs in the absence of infection, allergy and frank autoimmunity...
July 7, 2017: Clinical Reviews in Allergy & Immunology
https://www.readbyqxmd.com/read/28686783/schnitzler-syndrome-with-delirium-and-vertigo-the-utility-of-neurologic-manifestations-in-diagnosis
#6
Stanislav N Tolkachjov, David A Wetter
<p>Schnitzler syndrome (SS) is an autoinflammatory dermatosis that often goes undiagnosed for 5-6 years. Patients typically carry a diagnosis of urticaria; however, their cutaneous symptoms fail to respond to typical urticaria therapies and lack symptoms such as pruritus. Additionally, patients with SS may see multiple providers for nonspecific complaints of fever, lymphadenopathy, arthralgias, and bone pain. A correct diagnosis is paramount, as close to 20% of patients may develop a lymphoproliferative disorder and appropriate treatment may ameliorate all symptoms...
June 1, 2017: Journal of Drugs in Dermatology: JDD
https://www.readbyqxmd.com/read/28685269/the-molecular-pathophysiology-of-chronic-non-bacterial-osteomyelitis-cno-a-systematic-review
#7
REVIEW
Sigrun Ruth Hofmann, Franz Kapplusch, Katrin Mäbert, Christian Michael Hedrich
Chronic non-bacterial osteomyelitis (CNO) belongs to the growing spectrum of autoinflammatory diseases and primarily affects the skeletal system. Peak onset ranges between 7 and 12 years of age. The clinical spectrum of CNO covers sometimes asymptomatic inflammation of single bones at the one end and chronically active or recurrent multifocal osteitis at the other.Despite the intense scientific efforts, the exact molecular mechanisms of CNO remain unknown. Recent data suggest CNO as a genetically complex disorder with dysregulated TLR4/MAPK/inflammasome signaling cascades resulting in an imbalance between pro- and anti-inflammatory cytokine expression, leading to osteoclast activation and osteolytic lesions...
December 2017: Molecular and Cellular Pediatrics
https://www.readbyqxmd.com/read/28678379/a-novel-cluster-of-patients-with-familial-mediterranean-fever-in-southern-italy
#8
Leonilde Bonfrate, Giuseppe Scaccianoce, Giuseppe Palasciano, Eldad Ben-Chetrit, Piero Portincasa
BACKGROUND: Familial Mediterranean fever (FMF) is an autosomal recessive autoinflammatory disorder characterized by recurrent attacks of fever and serositis (peritonitis, pleuritic or synovitis) affecting mainly populations of Mediterranean origin. AIM: To describe a relatively new cluster of FMF subjects from Apulia and Basilicata regions (southern Italy). PATIENTS AND METHODS: Subjects were screened for FMF using the Tel-Hashomer criteria and genetic analysis...
July 5, 2017: European Journal of Clinical Investigation
https://www.readbyqxmd.com/read/28614530/chronic-recurrent-multifocal-osteomyelitis-exhibiting-predominance-of-periosteal-reaction
#9
Rodolfo Mendes Queiroz, Pedro Henrique Pereira Rocha, Lara Zupelli Lauar, Mauro José Brandão da Costa, Claudio Benedini Laguna, Rafael Gouvêa Gomes de Oliveira
Chronic recurrent multifocal osteomyelitis is an idiopathic nonpyogenic autoinflammatory bone disorder involving multiple sites, with clinical progression persisting for more than 6 months and which may have episodes of remission and exacerbation in the long term. It represents up to 2-5% of the cases of osteomyelitis, with an approximate incidence of up to 4/1,000,000 individuals, and average age of disease onset estimated between 8-11 years, predominantly in females. The legs are the most affected, with a predilection for metaphyseal regions along the growth plate...
April 2017: Revista da Associação Médica Brasileira
https://www.readbyqxmd.com/read/28588486/potential-of-il-1-il-18-and-inflammasome-inhibition-for-the-treatment-of-inflammatory-skin-diseases
#10
REVIEW
Gabriele Fenini, Emmanuel Contassot, Lars E French
In 2002, intracellular protein complexes known as the inflammasomes were discovered and were shown to have a crucial role in the sensing of intracellular pathogen- and danger-associated molecular patterns (PAMPs and DAMPs). Activation of the inflammasomes results in the processing and subsequent secretion of the pro-inflammatory cytokines IL-1β and IL-18. Several autoinflammatory disorders such as cryopyrin-associated periodic syndromes and Familial Mediterranean Fever have been associated with mutations of genes encoding inflammasome components...
2017: Frontiers in Pharmacology
https://www.readbyqxmd.com/read/28578473/geoepidemiology-and-immunologic-features-of-autoinflammatory-diseases-a-comprehensive-review
#11
REVIEW
Yvan Jamilloux, Alexandre Belot, Flora Magnotti, Sarah Benezech, Mathieu Gerfaud-Valentin, Emilie Bourdonnay, Thierry Walzer, Pascal Sève, Thomas Henry
The knowledge on systemic autoinflammatory disorders (SAID) is expanding rapidly and new signalling pathways are being decrypted. The concept of autoinflammation has been proposed since 1999, to define a group of diseases with abnormal innate immunity activation. Since then, more than 30 monogenic SAID have been described. In this review, we first describe inflammasomopathies and SAID related to the interleukin-1 pathway. Recent insights into the pathogenesis of familial Mediterranean fever and the function of Pyrin are detailed...
June 3, 2017: Clinical Reviews in Allergy & Immunology
https://www.readbyqxmd.com/read/28557837/unraveling-the-pathogenesis-of-periodic-fever-aphthous-stomatitis-pharyngitis-and-cervical-adenitis-through-genetic-immunologic-and-microbiologic-discoveries-an-update
#12
Kalpana Manthiram, Sivia Lapidus, Kathryn Edwards
PURPOSE OF REVIEW: Periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) syndrome is considered the most common periodic fever syndrome of childhood. Although it was first described three decades ago, the pathogenesis has been poorly understood. Recent studies on the heritability and immunology of the disorder have begun to shed light into the mechanisms of this autoinflammatory disorder. This review will focus on the pathogenesis of PFAPA, especially as it pertains to the genetic susceptibility, tonsillar immunology, and the role of the microbiome...
September 2017: Current Opinion in Rheumatology
https://www.readbyqxmd.com/read/28538744/comorbidities-of-hidradenitis-suppurativa
#13
Martina L Porter, Alexa B Kimball
Hidradenitis suppurativa (HS) is an inflammatory skin disorder with many associated comorbidities, including obesity, metabolic syndrome, smoking, depression, arthritis, autoinflammatory syndromes, inflammatory bowel disease, and genetic syndromes. In addition, HS patients can suffer from a variety of diseases related to the chronic inflammatory nature of their HS such as cardiovascular disease and anemia. An understanding of these comorbidities and associations is essential for the management of HS, and routine screening for these entities should be considered in all HS patients...
June 2017: Seminars in Cutaneous Medicine and Surgery
https://www.readbyqxmd.com/read/28529705/case-report-beh%C3%A3-et-s-disease-accompanied-with-vitiligo
#14
Ragıp Ertaş, Kemal Özyurt, Atıl Avcı, Sule Ketenci Ertas, Mustafa Atasoy
Recently, a few case reports and clinical studies have been published that explore the association of Behçet's Disease (BD) and vitiligo, with conflicting results. Genetic and immunological properties of BD and presence of autoantibodies support autoimmunity, but clinical features suggest autoinflammatory diseases. BD is thought to be a cornerstone between autoimmune and autoinflammatory diseases. On the other hand, vitiligo has been accepted as an autoimmune disease with associations of other autoimmune disorders and there is a possible role of autoimmunity in pathogenesis of the disease...
2017: F1000Research
https://www.readbyqxmd.com/read/28516235/clinical-imaging-and-genotypical-features-of-three-deceased-and-five-surviving-cases-with-ada2-deficiency
#15
Sezgin Sahin, Amra Adrovic, Kenan Barut, Serdal Ugurlu, Eda Tahir Turanli, Huri Ozdogan, Ozgur Kasapcopur
Deficiency of adenosine deaminase type 2 (DADA2) is a rare form of autoinflammatory disorder with limited reported cases. In this paper, we have presented the clinico-immunological, radiological and genetic characteristics of five surviving and three deceased childhood-onset DADA2 patients. We aimed to compare surviving and deceased patients in terms of clinical features and treatment modalities. Moreover, we have evaluated the causes of death in our DADA2 subjects together with the previously reported cases...
May 17, 2017: Rheumatology International
https://www.readbyqxmd.com/read/28497352/monogenic-periodic-fever-syndromes-treatment-options-for-the-pediatric-patient
#16
REVIEW
Seza Ozen, Selcan Demir
Autoinflammatory diseases are disorders of the innate immune system characterized by uncontrolled inflammation. The most commonly encountered autoinflammatory diseases are the hereditary periodic fever syndromes, which present with fever and other features of the skin, serosal membranes, and musculoskeletal system. The main inherited (monogenic) periodic fever syndromes are familial Mediterranean fever (FMF), cryopyrin-associated periodic syndrome (CAPS), tumor necrosis factor receptor-associated periodic syndrome (TRAPS), and hyperimmunoglobulin D syndrome (HIDS)/mevalonate kinase deficiency (MKD)...
August 2017: Paediatric Drugs
https://www.readbyqxmd.com/read/28461645/treatment-response-and-longterm-outcomes-in-children-with-chronic-nonbacterial-osteomyelitis
#17
Anja Schnabel, Ursula Range, Gabriele Hahn, Reinhard Berner, Christian M Hedrich
OBJECTIVE: The autoinflammatory bone disorder chronic nonbacterial osteomyelitis (CNO) covers a wide clinical spectrum, ranging from mild self-limited presentations to chronically active or recurrent courses, which are then referred to as chronic recurrent multifocal osteomyelitis (CRMO). Little is known about treatment options and longterm outcomes. We investigated treatment responses and outcomes in children with CNO. METHODS: A retrospective chart review was conducted in a tertiary referral center, covering 2004-2015...
July 2017: Journal of Rheumatology
https://www.readbyqxmd.com/read/28454496/canakinumab-for-the-treatment-of-tnf-receptor-associated-periodic-syndrome
#18
F La Torre, M C Caparello, R Cimaz
TNF-receptor-associated periodic syndrome is an autoinflammatory disorder caused by mutations in TNF receptor superfamily 1A gene. The molecular pathogenesis of TRAPS remains unclear; it is known that a key role is played by mutations in TNFRSF1A that induce the hypersecretion of pro-inflammatory cytokines as well as IL-1β, resulting in uncontrolled inflammatory reactions. Furthermore, TNFRSF1A gene mutations result in intracellular stress ultimately leading to increased production of interleukin-1β, but the exact mechanism referred to in the connection between TNFRSF1A mutation and increased release of IL-1β, is still under study...
June 2017: Expert Review of Clinical Immunology
https://www.readbyqxmd.com/read/28446606/the-beh%C3%A3-et-s-disease-associated-variant-of-the-aminopeptidase-erap1-shapes-a-low-affinity-hla-b-51-peptidome-by-differential-subpeptidome-processing
#19
Pablo Guasp, Eilon Barnea, M Francisca González-Escribano, Anaïs Jiménez-Reinoso, José R Regueiro, Arie Admon, José A López de Castro
A low-activity variant of endoplasmic reticulum aminopeptidase 1 (ERAP1), Hap10, is associated with the autoinflammatory disorder Behçet's disease (BD) in epistasis with HLA-B*51, which is the main risk factor for this disorder. The role of Hap10 in BD pathogenesis is unknown. We sought to define the effects of Hap10 on the HLA-B*51 peptidome and to distinguish these effects from those due to HLA-B*51 polymorphisms unrelated to disease. The peptidome of the BD-associated HLA-B*51:08 subtype expressed in a Hap10-positive cell line was isolated, characterized by mass spectrometry, and compared with the HLA-B*51:01 peptidome from cells expressing more active ERAP1 allotypes...
June 9, 2017: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/28442396/fas-and-fas-ligand-gene-polymorphisms-in-turkish-patients-with-familial-mediterranean-fever
#20
Emine Gulce Ozel, Gulay Gulbol Duran, Muhammet Murat Celik, Nizami Duran, Ramazan Gunesacar
Familial Mediterranean Fever (FMF) is an autosomal recessive autoinflammatory disorder characterized by recurrent fever, serositis, abdominal pain, arthritis, arthralgia and erysipelas like erythema. Fas and Fas ligand molecules play a central role in the apoptosis signaling of various cell types including neutrophils. Neutrophils are the major cell population involved in acute inflammation in patients with FMF and the role of Fas and Fas ligand molecules in this cells of FMF patients may be crucial. Therefore, in the present study, we aimed to investigate whether the Fas cell surface receptor gene (FAS); NM_000043...
August 5, 2017: Gene
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