keyword
MENU ▼
Read by QxMD icon Read
search

Autoinflammatory disorder

keyword
https://www.readbyqxmd.com/read/28229824/normal-arterial-stiffness-in-familial-mediterranean-fever-evidence-for-a-possible-cardiovascular-protective-role-of-colchicine
#1
Olga Kukuy, Avi Livneh, Liran Mendel, Ariel Benor, Eitan Giat, Oleg Perski, Olga Feld, Yonatan Kassel, Ilan Ben-Zvi, Merav Lidar, Eliezer J Holtzman, Adi Leiba
OBJECTIVES: Familial Mediterranean fever (FMF) is an autoinflammatory disorder with episodic and persistent inflammation, which is only partially suppressed by continuous colchicine treatment. While chronic inflammation is considered an important cardiovascular risk factor in many inflammatory disorders, its impact in FMF is still disputed. We measured arterial stiffness, a marker of atherosclerotic cardiovascular disease, in a group of FMF patients, in order to evaluate the cardiovascular consequences of inflammation in FMF and the role of colchicine in their development...
February 9, 2017: Clinical and Experimental Rheumatology
https://www.readbyqxmd.com/read/28225960/skin-symptoms-as-diagnostic-clue-for-autoinflammatory-diseases
#2
Alvaro Moreira, Barbara Torres, Juliano Peruzzo, Alberto Mota, Kilian Eyerich, Johannes Ring
Autoinflammatory disorders are immune-mediated diseases with increased production of inflammatory cytokines and absence of detectable autoantibodies. They course with recurrent episodes of systemic inflammation and fever is the most common symptom. Cutaneous manifestations are prevalent and important to diagnosis and early treatment of the syndromes. The purpose of this review is to emphasize to dermatologists the skin symptoms present in these syndromes in order to provide their early diagnosis.
January 2017: Anais Brasileiros de Dermatologia
https://www.readbyqxmd.com/read/28211254/egyptian-tale-from-india-application-of-whole-exome-sequencing-in-diagnosis-of-atypical-familial-mediterranean-fever
#3
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/28194777/familial-mediterranean-fever-patients-with-hidradenitis-suppurativa
#4
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/28186428/eosinophils-regulate-interferon-alpha-production-in-plasmacytoid-dendritic-cells-stimulated-with-components-of-neutrophil-extracellular-traps
#5
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/28165841/survey-of-attitudes-of-non-pediatric-rheumatologists-among-councilors-of-the-japan-college-of-rheumatology-regarding-transitional-care
#6
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/28149656/immune-and-inflammatory-gene-expressions-are-different-in-beh%C3%A3-et-s-disease-compared-to-those-in-familial-mediterranean-fever
#7
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/28124745/-clinical-aspects-and-genetics-of-proteasome-associated-autoinflammatory-syndromes-praas
#8
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/28094164/disorders-characterized-by-predominant-or-exclusive-dermal-inflammation
#9
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
https://www.readbyqxmd.com/read/28090320/immunopathogenesis-of-granulomas-in-chronic-autoinflammatory-diseases
#10
REVIEW
Wilhelmina Maria Cornelia Timmermans, Jan Alexander Michael van Laar, Petrus Martinus van Hagen, Menno Cornelis van Zelm
Granulomas are clusters of immune cells. These structures can be formed in reaction to infection and display signs of necrosis, such as in tuberculosis. Alternatively, in several immune disorders, such as sarcoidosis, Crohn's disease and common variable immunodeficiency, non-caseating granulomas are formed without an obvious infectious trigger. Despite advances in our understanding of the human immune system, the pathogenesis underlying these non-caseating granulomas in chronic inflammatory diseases is still poorly understood...
December 2016: Clinical & Translational Immunology
https://www.readbyqxmd.com/read/28064547/a-systematic-approach-to-autoinflammatory-syndromes-a-spelling-booklet-for-the-beginner
#11
Donato Rigante
Hallmark of autoinflammatory syndromes (AIS) is the periodic recurrence of 'sterile' inflammatory attacks characterized by fever and organ- or tissue-specific inflammation. Basic research projects over the last two decades have boosted our understanding of pathological pathways, mainly involving interleukin (IL)-1 biosynthesis, and also revealed that their dysregulation results from genetically-heterogeneous inborn errors of innate immunity and leads to multiple inflammatory phenotypes. Starting from the evidence of poor response to IL-1 inhibitors of some patients with multi-organ inflammation, further research studies have disclosed a crucial role for nuclear factor (NF)-κB and type I interferon (IFN) in specific AIS...
January 9, 2017: Expert Review of Clinical Immunology
https://www.readbyqxmd.com/read/28032234/the-emerging-role-of-interleukin-il-1-in-the-pathogenesis-and-treatment-of-inflammatory-and-degenerative-eye-diseases
#12
Claudia Fabiani, Jurgen Sota, Gian Marco Tosi, Rossella Franceschini, Bruno Frediani, Mauro Galeazzi, Donato Rigante, Luca Cantarini
Interleukin (IL)-1 plays a key role in the pathogenesis and thereafter in the search for specific treatments of different inflammatory and degenerative eye diseases. Indeed, an overactivity of IL-1 might be an initiating factor for many immunopathologic sceneries in the eye, as proven by the efficacy of the specific IL-1 blockade in different ocular diseases. For instance, the uveitis in monogenic autoinflammatory disorders, such as Blau syndrome and cryopyrin-associated periodic syndrome, or in complex polygenic autoinflammatory disorders, such as Behçet's disease, has been successfully treated with IL-1 blockers...
December 28, 2016: Clinical Rheumatology
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
#13
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/27994174/evidence-of-digenic-inheritance-in-autoinflammation-associated-genes
#14
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/27983684/lung-involvement-in-children-with-hereditary-autoinflammatory-disorders
#15
REVIEW
Giusyda Tarantino, Susanna Esposito, Laura Andreozzi, Benedetta Bracci, Francesca D'Errico, Donato Rigante
Short-lived systemic inflammatory reactions arising from disrupted rules in the innate immune system are the operating platforms of hereditary autoinflammatory disorders (HAIDs). Multiple organs may be involved and aseptic inflammation leading to disease-specific phenotypes defines most HAIDs. Lungs are infrequently involved in children with HAIDs: the most common pulmonary manifestation is pleuritis in familial Mediterranean fever (FMF) and tumor necrosis factor receptor-associated periodic syndrome (TRAPS), respectively caused by mutations in the MEFV and TNFRSF1A genes, while interstitial lung disease can be observed in STING-associated vasculopathy with onset in infancy (SAVI), caused by mutations in the TMEM173 gene...
December 15, 2016: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/27965258/a-new-autoinflammatory-and-autoimmune-syndrome-associated-with-nlrp1-mutations-naiad-nlrp1-associated-autoinflammation-with-arthritis-and-dyskeratosis
#16
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/27964755/xgr-software-for-enhanced-interpretation-of-genomic-summary-data-illustrated-by-application-to-immunological-traits
#17
Hai Fang, Bogdan Knezevic, Katie L Burnham, Julian C Knight
BACKGROUND: Biological interpretation of genomic summary data such as those resulting from genome-wide association studies (GWAS) and expression quantitative trait loci (eQTL) studies is one of the major bottlenecks in medical genomics research, calling for efficient and integrative tools to resolve this problem. RESULTS: We introduce eXploring Genomic Relations (XGR), an open source tool designed for enhanced interpretation of genomic summary data enabling downstream knowledge discovery...
December 13, 2016: Genome Medicine
https://www.readbyqxmd.com/read/27943240/autoinflammation-in-pyoderma-gangrenosum-and-its-syndromic-form-pash
#18
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/27906774/lessons-from-characterization-and-treatment-of-the-autoinflammatory-syndromes
#19
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
#20
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
keyword
keyword
5291
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"