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Autoinflammatory disorder

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https://www.readbyqxmd.com/read/28614530/chronic-recurrent-multifocal-osteomyelitis-exhibiting-predominance-of-periosteal-reaction
#1
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
#2
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
#3
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
#4
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...
May 26, 2017: Current Opinion in Rheumatology
https://www.readbyqxmd.com/read/28538744/comorbidities-of-hidradenitis-suppurativa
#5
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
#6
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
#7
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
#8
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)...
May 11, 2017: Paediatric Drugs
https://www.readbyqxmd.com/read/28461645/treatment-response-and-longterm-outcomes-in-children-with-chronic-nonbacterial-osteomyelitis
#9
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...
May 1, 2017: Journal of Rheumatology
https://www.readbyqxmd.com/read/28454496/canakinumab-for-the-treatment-of-tnf-receptor-associated-periodic-syndrome
#10
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
#11
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
#12
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
https://www.readbyqxmd.com/read/28421072/dysregulated-il-1%C3%AE-secretion-in-autoinflammatory-diseases-a-matter-of-stress
#13
Sonia Carta, Claudia Semino, Roberto Sitia, Anna Rubartelli
Infectious and sterile inflammation is induced by activation of innate immune cells. Triggering of toll-like receptors by pathogen-associated molecular pattern or damage-associated molecular pattern (PAMP or DAMP) molecules generates reactive oxygen species that in turn induce production and activation of pro-inflammatory cytokines such as IL-1β. Recent evidence indicates that cell stress due to common events, like starvation, enhanced metabolic demand, cold or heat, not only potentiates inflammation but may also directly trigger it in the absence of PAMPs or DAMPs...
2017: Frontiers in Immunology
https://www.readbyqxmd.com/read/28401420/an-update-on-the-pathogenesis-and-treatment-of-chronic-recurrent-multifocal-osteomyelitis-in-children
#14
REVIEW
Andrea Taddio, Floriana Zennaro, Serena Pastore, Rolando Cimaz
Chronic recurrent multifocal osteomyelitis (CRMO), also known as chronic non-bacterial osteomyelitis (CNO), is a rare inflammatory disorder that primarily affects children. It is characterized by pain, local bone expansion, and radiological findings suggestive of osteomyelitis, usually at multiple sites. CRMO predominantly affects the metaphyses of long bones, but involvement of the clavicle or mandible are suggestive of the diagnosis. CRMO is a diagnosis of exclusion, and its pathogenesis remains unknown. Differential diagnosis includes infection, malignancies, benign bone tumors, metabolic disorders, and other autoinflammatory disorders...
June 2017: Paediatric Drugs
https://www.readbyqxmd.com/read/28388249/natural-killer-cell-subsets-and-their-functional-activity-in-beh%C3%A3-et-s-disease
#15
Fulya Cosan, Esin Aktas Cetin, Nilgun Akdeniz, Zeliha Emrence, Ayse Cefle, Gunnur Deniz
BACKGROUND: Behçet's disease (BD) is a rare, chronic autoinflammatory disorder of unknown origin. Natural killer (NK) cells are one of the major immunoregulatory cell groups of the innate immune system, but their role in BD pathogenesis is not well documented. OBJECTIVES: We aimed to investigate the role of NK cell subsets and their cytokine secretion and cytotoxic activity in patients with BD. PATIENTS AND METHODS: The study group consisted of BD patients who had only mucocutaneous involvement, and they were compared with healthy subjects...
April 7, 2017: Immunological Investigations
https://www.readbyqxmd.com/read/28382039/genetic-and-epigenetic-determinants-in-autoinflammatory-diseases
#16
REVIEW
Damiana Álvarez-Errico, Roser Vento-Tormo, Esteban Ballestar
The concept of autoinflammation has evolved over the past 20 years, beginning with the discovery that mutations in the Mediterranean Fever (MEFV) gene were causative of Familial Mediterranean Fever. Currently, autoinflammatory diseases comprise a wide range of disorders with the common features of recurrent fever attacks, prevalence of hyperreactive innate immune cells, and signs of inflammation that can be systemic or organ specific in the absence of pathogenic infection of autoimmunity. Innate immune cells from the myeloid compartment are the main effectors of uncontrolled inflammation that is caused in great extent by the overproduction of inflammatory cytokines such as IL-1β and IL-18...
2017: Frontiers in Immunology
https://www.readbyqxmd.com/read/28381287/munchausen-by-proxy-syndrome-mimicking-systemic-autoinflammatory-disease-case-report-and-review-of-the-literature
#17
Helmut Wittkowski, Claas Hinze, Sigrid Häfner-Harms, Vinzenz Oji, Katja Masjosthusmann, Martina Monninger, Ulrike Grenzebach, Dirk Foell
BACKGROUND: Systemic autoinflammatory diseases (SAIDs) represent a growing number of monogenic, polygenic or multifactorial disorders that are often difficult to diagnose. CASE PRESENTATION: Here we report a patient who was initially erroneously diagnosed and treated for SAID. Symptoms consisted of recurrent fever, erythematous and/or blistering skin lesions, angioedema, susceptibility to bleeding, external ear infections and reversible anisocoria in the absence of laboratory evidence of systemic inflammation...
April 5, 2017: Pediatric Rheumatology Online Journal
https://www.readbyqxmd.com/read/28378116/-genetic-methods-for-analysis-of-autoinflammatory-diseases
#18
REVIEW
M Bienias, N König, C Wolf, S Kretschmer, A Rösen-Wolff, R Berner, V Tüngler, M A Lee-Kirsch
Over the past years the phenotypic and genetic spectrum of autoinflammatory diseases has continuously increased. Moreover, several monogenic autoinflammatory disorders have now been identified where febrile episodes are not among the leading symptoms and which can be accompanied by autoimmune phenomena and susceptibility to infections. Autoinflammatory conditions that are characterized by uncontrolled activity of cytokines, such as interleukin-1 beta (IL1β), tumor necrosis factor alpha (TNF-α) and type 1 interferons (1-IFN), are amenable to specific therapeutic interventions...
May 2017: Zeitschrift Für Rheumatologie
https://www.readbyqxmd.com/read/28361334/chronic-recurrent-multifocal-osteomyelitis-and-related-diseases-update-on-pathogenesis
#19
REVIEW
Allison J Cox, Yongdong Zhao, Polly J Ferguson
PURPOSE OF REVIEW: We focus on recent advances in the understanding of the genetic, molecular, immunologic, and environmental factors implicated in the pathogenesis of autoinflammatory bone diseases including the syndromic and non-syndromic forms of chronic recurrent multifocal osteomyelitis (CRMO). RECENT FINDINGS: Evidence implicating the IL-1 pathway in the pathogenesis of the Mendelian forms of CRMO is growing. LIPIN2 can regulate the NLRP3 inflammasome by affecting P2X7 receptor activation, and intracellular cholesterol can modulate P2X7R currents...
April 2017: Current Rheumatology Reports
https://www.readbyqxmd.com/read/28345207/autoinflammatory-syndromes-associated-with-hidradenitis-suppurativa-and-or-acne
#20
REVIEW
Caroline Vinkel, Simon F Thomsen
Autoinflammatory syndromes associated with hidradenitis suppurativa (HS) and/or acne are rare but potentially debilitating disorders if not diagnosed and treated correctly. They share a common pathogenesis involving a dysregulated innate immune system with abnormal interleukin (IL)-1 signaling leading to sterile neutrophilic inflammation. The clinical features are recurrent episodes of fever, painful arthritis, and skin lesions consistent with HS, acne, and pyoderma gangrenosum (PG) accompanied by elevated systemic inflammatory markers in blood...
March 27, 2017: International Journal of Dermatology
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