keyword
MENU ▼
Read by QxMD icon Read
search

Autoinflammatory diseases

keyword
https://www.readbyqxmd.com/read/28806468/an-overview-of-hemophagocytic-lymphohistiocytosis
#1
Ysabella M Esteban, Jill L O de Jong, Melissa S Tesher
Hemophagocytic lymphohistiocytosis (HLH) is a life-threatening syndrome characterized by a dysregulated hyperinflammatory response associated with aberrant activation of lymphocytes and macrophages that results in hypercytokinemia. It is classically divided into two types: (1) primary or familial HLH and (2) secondary HLH. Familial HLH is generally an autosomal recessive condition, whereas secondary HLH is usually associated with infectious diseases, autoinflammatory and autoimmune diseases (where it is more commonly known as macrophage activation syndrome), malignancy, immunosuppression, hematopoietic stem cell transplantation, organ transplantation, HIV infection, and metabolic diseases...
August 1, 2017: Pediatric Annals
https://www.readbyqxmd.com/read/28798075/cytokines-of-the-il-1-family-recognized-targets-in-chronic-inflammation-underrated-in-organ-transplantations
#2
REVIEW
Ilja Striz
Interleukin 1 (IL-1) family is a group of cytokines with multiple local and systemic effects, which regulates both innate and adaptive immune responses. Generally, most IL-1 family cytokines express prevailing pro-inflammatory activities (IL-1α, IL-1β, IL-18, IL-33, IL-36 α, β, γ), whereas others are anti-inflammatory (IL-1Ra (IL-1 receptor antagonist), IL-36Ra, IL-38, IL-37). In addition to their immunomodulatory roles, some of them are also involved in the physiological modulation of homeostatic processes and directly affect mRNA transcription...
September 1, 2017: Clinical Science (1979-)
https://www.readbyqxmd.com/read/28790368/signs-of-innate-immune-activation-and-premature-immunosenescence-in-psoriasis-patients
#3
Liisi Šahmatova, Elena Sügis, Marina Šunina, Helen Hermann, Ele Prans, Maire Pihlap, Kristi Abram, Ana Rebane, Hedi Peterson, Pärt Peterson, Külli Kingo, Kai Kisand
Psoriasis is a chronic inflammatory disease that affects skin and is associated with systemic inflammation and many serious comorbidities ranging from metabolic syndrome to cancer. Important discoveries about psoriasis pathogenesis have enabled the development of effective biological treatments blocking the T helper 17 pathway. However, it has not been settled whether psoriasis is a T cell-mediated autoimmune disease or an autoinflammatory disorder that is driven by exaggerated innate immune signalling. Our comparative gene expression and hierarchical cluster analysis reveal important gene circuits involving innate receptors...
August 8, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28781105/adult-s-onset-still-disease-occurring-during-pregnancy-case-report-and-literature-review
#4
Léo Plaçais, Arsène Mekinian, Marie Bornes, Armelle Poujol-Robert, Naiké Bigé, Eric Maury, Olivier Fain
INTRODUCTION: Adult onset Still's disease is a rare affection classified among non-hereditary autoinflammatory diseases. We here report a case of AOSD revealed during pregnancy with a life-threatening presentation along with a review of 19 cases from literature. CASE: A 38-years old woman was treated in our department for diffuse systemic sclerosis and associated Sjögren syndrome. She was pregnant and presented with acute fever and arthralgias. Laboratory data revealed mild liver cytolysis but a large screening for infectious and auto-immune diseases was negative and hepato-biliar imaging was normal...
July 10, 2017: Seminars in Arthritis and Rheumatism
https://www.readbyqxmd.com/read/28771701/cellular-metabolism-of-tumor-associated-macrophages-functional-impact-and-consequences
#5
REVIEW
Katrin Rabold, Mihai G Netea, Gosse J Adema, Romana T Netea-Maier
Macrophages are innate immune cells that play a role not only in host defense against infections, but also in the pathophysiology of autoimmune and autoinflammatory disorders, as well as cancer. An important feature of macrophages is their high plasticity, with high ability to adapt to environmental changes by adjusting their cellular metabolism and immunological phenotype. Macrophages are one of the most abundant innate immune cells within the tumor microenvironment that have been associated with tumor growth, metastasis, angiogenesis and poor prognosis...
August 3, 2017: FEBS Letters
https://www.readbyqxmd.com/read/28750667/co-existence-of-blau-syndrome-and-naid-diagnostic-challenges-associated-with-presence-of-multiple-pathogenic-variants-in-nod2-gene-a-case-report
#6
Magdalena Dziedzic, Agata Marjańska, Katarzyna Bąbol-Pokora, Anna Urbańczyk, Elżbieta Grześk, Wojciech Młynarski, Sylwia Kołtan
BACKGROUND: Pediatric autoinflammatory diseases are rare and still poorly understood conditions resulting from defective genetic control of innate immune system, inter alia from anomalies of NOD2 gene. The product of this gene is Nod2 protein, taking part in maintenance of immune homeostasis. Clinical form of resultant autoinflammatory condition depends on NOD2 genotype; usually patients with NOD2 defects present with Blau syndrome, NOD2-associated autoinflammatory disease (NAID) or Crohn's disease...
July 27, 2017: Pediatric Rheumatology Online Journal
https://www.readbyqxmd.com/read/28750028/clinical-impact-of-a-targeted-next-generation-sequencing-gene-panel-for-autoinflammation-and-vasculitis
#7
Ebun Omoyinmi, Ariane Standing, Annette Keylock, Fiona Price-Kuehne, Sonia Melo Gomes, Dorota Rowczenio, Sira Nanthapisal, Thomas Cullup, Rodney Nyanhete, Emma Ashton, Claire Murphy, Megan Clarke, Helena Ahlfors, Lucy Jenkins, Kimberly Gilmour, Despina Eleftheriou, Helen J Lachmann, Philip N Hawkins, Nigel Klein, Paul A Brogan
BACKGROUND: Monogenic autoinflammatory diseases (AID) are a rapidly expanding group of genetically diverse but phenotypically overlapping systemic inflammatory disorders associated with dysregulated innate immunity. They cause significant morbidity, mortality and economic burden. Here, we aimed to develop and evaluate the clinical impact of a NGS targeted gene panel, the "Vasculitis and Inflammation Panel" (VIP) for AID and vasculitis. METHODS: The Agilent SureDesign tool was used to design 2 versions of VIP; VIP1 targeting 113 genes, and a later version, VIP2, targeting 166 genes...
2017: PloS One
https://www.readbyqxmd.com/read/28747603/autoinflammatory-diseases-in-dermatology-ditra-and-camps
#8
Kazumitsu Sugiura
  Deficiency of interleukin thirty-six receptor antagonist (DITRA) and CARD14 mediated psoriasis (CAMPS) are autoinflammatory diseases in dermatology. The causative genes of DITRA and CMAPS have been identified recently. In this paper, IL36RN and CARD14, the causative gene for DITRA and CAMPS, respectively were explained. In addition, clinical features and therapies for generalized pustular psoriasis not associated with psoriasis vulgaris (GPP without PsV), and pityriasis rubra pilaris type V (PRP type V) were described...
2017: Nihon Rinshō Men'eki Gakkai Kaishi, Japanese Journal of Clinical Immunology
https://www.readbyqxmd.com/read/28745684/-autoinflammatory-diseases-and-kidney-involvement
#9
EDITORIAL
N A Mukhin, M V Bogdanova, V V Rameev, L V Kozlovskaya
Autoinflammatory disease (AID) is a new concept formulated from the results of studying the pathogenesis of familial periodic fevers, a heterogeneous group of genetically determined diseases characterized by causelessly recurrent exacerbations of the inflammatory process due to genetically determined disorders of innate immunity and accompanied by uncontrolled hypersecretion of interleukin-1 (IL-1). These mechanisms were a basic model for understanding a wide range of rheumatologic and other inflammatory diseases of the internal organs...
2017: Terapevticheskiĭ Arkhiv
https://www.readbyqxmd.com/read/28744167/muckle-wells-syndrome-clinical-perspectives
#10
REVIEW
Tu-Anh Tran
Muckle-Wells syndrome (MWS) is a rare autoinflammatory disorder. It is due to NLRP3 gene mutations, responsible for excessive caspase-1 activation and interleukin 1β processing. MWS is the intermediate phenotype of severity of cryopyrin-associated periodic syndrome. Urticarial rash, conjunctivitis, recurrent fever, arthralgia, and fatigue are the main clinical manifestations of MWS. Yet, sensorineural hearing loss and renal amyloidosis can occur after long term evolution. Patients' quality of life has been drastically improved with the advent of IL-1 inhibitors...
2017: Open Access Rheumatology: Research and Reviews
https://www.readbyqxmd.com/read/28741584/pitfall-of-modern-genetics-recurrent-erysipelas-masquerading-as-autoinflammatory-disease
#11
E J W Spierings, J W M van der Meer, A Simon
A patient presented with recurrent episodes of fever and skin rash for eight years. DNA analysis of the NLRP3 gene revealed a mutation associated with autoinflammatory disease. After an initial positive response to the biological anakinra, the patient deteriorated. Reassessment revealed recurrent erysipelas. In conclusion, sometimes erysipelas-like skin rash is real erysipelas, and DNA results are not always the final answer.
July 2017: Netherlands Journal of Medicine
https://www.readbyqxmd.com/read/28738209/psoriasis-a-mixed-autoimmune-and-autoinflammatory-disease
#12
REVIEW
Yun Liang, Mrinal K Sarkar, Lam C Tsoi, Johann E Gudjonsson
In recent years marked progress has been made in our understanding of the critical biologic and immunologic pathways involved in psoriasis. Genetic studies have demonstrated that susceptibility to psoriasis involves components of both the adaptive and innate immune system and not surprisingly activation of both of these arms of the immune system is found in psoriatic skin. While adaptive immune responses predominate in chronic plaque psoriasis, innate and autoinflammatory responses dominate in pustular forms of psoriasis, with other clinical subtypes extending on a spectrum between plaque and pustular psoriasis...
July 21, 2017: Current Opinion in Immunology
https://www.readbyqxmd.com/read/28733143/mechanisms-of-nlrp1-mediated-autoinflammatory-disease-in-humans-and-mice
#13
REVIEW
Chien-Hsiung Yu, Jonas Moecking, Matthias Geyer, Seth L Masters
NLRP1 was the first NOD-like receptor described to form an inflammasome, recruiting ASC to activate caspase-1, which processes interleukin-1β and interleukin-18 to their active form. A wealth of new genetic information has now redefined our understanding of this innate immune sensor. Specifically, rare loss-of-function variants in the N-terminal pyrin domain indicate that this part of NLRP1 is autoinhibitory and normally acts to prevent a familial autoinflammatory skin disease associated with cancer. In the absence of a ligand to trigger human NLRP1, these mutations have now confirmed the requirement of NLRP1 autolytic cleavage within the FIIND domain, which had previously been implicated in NLRP1 activation...
July 19, 2017: Journal of Molecular Biology
https://www.readbyqxmd.com/read/28724326/sting-signalling-an-emerging-common-pathway-in-autoimmunity-and-cancer
#14
David McCaffary
The equipoise between the disease states of cancer and autoinflammation has perhaps been underappreciated in clinical practice and biomedical research. However, since the discover of STING (stimulator of interferon genes) as an integral regulator of innate immunity, a wealth of information has implicated this signaling pathway in both of these diseases. Under cellular homeostasis, STING serves to detect - and promote immune defense against - DNA viruses and intracellular bacteria, as described in its initial discovery...
July 20, 2017: Immunopharmacology and Immunotoxicology
https://www.readbyqxmd.com/read/28722725/the-monogenic-autoinflammatory-diseases-define-new-pathways-in-human-innate-immunity-and-inflammation
#15
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/28721627/two-chinese-pedigrees-of-blau-syndrome-with-thirteen-affected-members
#16
REVIEW
Di Wu, Min Shen
Blau syndrome (BS) is a rare autosomal dominant autoinflammatory disease characterized by the clinical triad of dermatitis, arthritis, and uveitis. It is caused by mutations in nucleotide-binding oligomerization domain-containing protein-2 (NOD2) gene. BS has been widely reported in Caucasians but cases documented in China are scarce. We reported two Chinese families with BS, which were by far the two largest pedigrees in the Chinese population. We identified two unrelated families with BS. The phenotypes and genotypes of these patients were reviewed and compared with previous cohorts...
July 18, 2017: Clinical Rheumatology
https://www.readbyqxmd.com/read/28715916/drug-management-of-neutrophilic-dermatoses
#17
Simone Garcovich, Clara De Simone, Emilio Berti, Angelo Valerio Marzano
Neutrophilic dermatoses are a heterogenous group of chronic, cutaneous inflammatory conditions characterized by the accumulation of neutrophils in the skin and by systemic inflammation. Neutrophilic dermatoses can be idiopathic or associated with other inflammatory or systemic diseases, including the group of the hereditary, autoinflammatory syndromes. Clinical management is challenging, due to limited clinical evidence and lack of clinical practice guidelines. Areas covered: This review provides an overview of current therapeutic management of the three prototypical neutrophilic dermatoses, aseptic pustulosis of the folds, Sweet syndrome and pyoderma gangrenosum...
July 27, 2017: Expert Review of Clinical Pharmacology
https://www.readbyqxmd.com/read/28711137/genomics-biology-and%C3%A2-human-illness-advances-in-the-monogenic-autoinflammatory-diseases
#18
REVIEW
Hirotsugu Oda, Daniel L Kastner
The monogenic autoinflammatory diseases are a group of illnesses with prominent rheumatic manifestations that are characterized by genetically determined recurrent sterile inflammation and are thus inborn errors of innate immunity. Molecular targeted therapies against inflammatory cytokines, such as interleukin 1 and tumor necrosis factor, and intracellular cytokine signaling pathways have proved effective in many cases. Emerging next-generation sequencing technologies have accelerated the identification of previously unreported genes causing autoinflammatory diseases...
August 2017: Rheumatic Diseases Clinics of North America
https://www.readbyqxmd.com/read/28694138/does-type-i-interferon-drive-systemic-autoimmunity
#19
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 8, 2017: Autoimmunity Reviews
https://www.readbyqxmd.com/read/28693592/bone-metabolism-and-inflammatory-characteristics-in-14-cases-of-chronic-nonbacterial-osteomyelitis
#20
Yurika Ata, Yutaka Inaba, Hyonmin Choe, Naomi Kobayashi, Jiro Machida, Naoyuki Nakamura, Tomoyuki Saito
BACKGROUND: Chronic nonbacterial osteomyelitis (CNO) is a multifocal autoinflammatory disease that often impairs daily life in children. This study aimed to investigate the bone metabolic and inflammatory characteristics of patients with CNO, and to assess the differences between responders and nonresponders to conservative treatment. METHODS: We investigated the clinical symptoms; laboratory data including inflammatory and bone metabolic biomarkers; and imaging findings from plain radiography, magnetic resonance imaging (MRI), fluorodeoxyglucose-positron emission tomography (FDG-PET), and dual-energy x-ray absorption (DEXA) in 14 patients with CNO...
July 11, 2017: Pediatric Rheumatology Online Journal
keyword
keyword
34475
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"