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Autoinflammatory disorder

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https://www.readbyqxmd.com/read/27906774/lessons-from-characterization-and-treatment-of-the-autoinflammatory-syndromes
#1
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...
November 30, 2016: Current Opinion in Rheumatology
https://www.readbyqxmd.com/read/27905098/are-neutrophilic-dermatoses-autoinflammatory-disorders
#2
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/27894451/eczema-and-urticaria-as-manifestations-of-undiagnosed-and-rare-diseases
#3
REVIEW
Molly J Youssef, Yvonne E Chiu
Eczema and urticaria are common disorders encountered in pediatric patients, but they may occasionally be the presenting complaint in a child with an underlying rare disease. Immunodeficiency syndromes should be suspected when eczema is associated with neonatal onset, recurrent infections, chronic lymphadenopathy, or failure to thrive. Nutritional deficiencies and mycosis fungoides are in the differential diagnosis for a child with a recalcitrant eczematous eruption. Autoinflammatory syndromes should be suspected in a child with chronic urticaria, fever, and other systemic signs of inflammation...
February 2017: Pediatric Clinics of North America
https://www.readbyqxmd.com/read/27894439/when-to-suspect-autoinflammatory-recurrent-fever-syndromes
#4
REVIEW
James W Verbsky
Autoinflammatory disorders are disorders characterized by rash, arthritis, fever, and systemic inflammation. These disorders are caused by mutations in genes important in innate immune system sensors. This review highlights the workup of an individual with recurrent episodes of inflammation, features of these disorders, the genetic defects that cause these disorders, and the specific treatments available.
February 2017: Pediatric Clinics of North America
https://www.readbyqxmd.com/read/27890235/dermatologic-manifestations-of-monogenic-autoinflammatory-diseases
#5
REVIEW
Kyawt Win Shwin, Chyi-Chia Richard Lee, Raphaela Goldbach-Mansky
Autoinflammatory disorders are sterile inflammatory conditions characterized by episodes of early-onset fever, rash, and disease-specific patterns of organ inflammation. Gain-of-function mutations in innate danger-sensing pathways, including the inflammasomes and the nucleic acid sensing pathways, play critical roles in the pathogenesis of IL-1 and Type-I IFN-mediated disorders and point to an important role of excessive proinflammatory cytokine signaling, including interleukin (IL)-1b , Type-I interferons, IL-18, TNF and others in causing the organ specific immune dysregulation...
January 2017: Dermatologic Clinics
https://www.readbyqxmd.com/read/27886801/approach-to-the-patients-with-inadequate-response-to-colchicine-in-familial-mediterranean-fever
#6
REVIEW
Ahmet Gül
Familial Mediterranean fever (FMF) is the most common form of monogenic autoinflammatory conditions, and response to colchicine has been considered as one of its distinctive features among other hereditary periodic fever disorders. Prophylactic colchicine has been shown to be effective in the prevention of inflammatory attacks and development of amyloidosis. However, the highest tolerable doses of colchicine may not be adequate enough to manage these goals in approximately 5% of FMF patients. Inadequate response to colchicine in fully compliant FMF patients may be associated with genetic and/or environmental factors affecting disease severity and colchicine bioavailability...
April 2016: Best Practice & Research. Clinical Rheumatology
https://www.readbyqxmd.com/read/27871068/autoinflammatory-skin-disease-a-review-of-concepts-and-applications-to-general-dermatology
#7
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.
November 22, 2016: Dermatology: International Journal for Clinical and Investigative Dermatology
https://www.readbyqxmd.com/read/27864522/comorbidity-between-central-disorders-of-hypersomnolence-and-immune-based-disorders
#8
Lucie Barateau, Régis Lopez, Isabelle Arnulf, Michel Lecendreux, Patricia Franco, Xavier Drouot, Smaranda Leu-Semenescu, Isabelle Jaussent, Yves Dauvilliers
OBJECTIVE: To assess and compare the frequencies of personal and family history of autoimmune diseases (AID), autoinflammatory disorders (ID), and allergies in a population of patients, adults and children, with narcolepsy type 1 (NT1), narcolepsy type 2 (NT2), and idiopathic hypersomnia (IH), 3 central hypersomnia disorders, and healthy controls. METHODS: Personal and family history of AID, ID, and allergies were assessed by questionnaire and medical interview in a large cohort of 450 consecutive adult patients (206 NT1, 106 NT2, 138 IH) and 95 pediatric patients (80 NT1) diagnosed according to the third International Classification of Sleep Disorders criteria in national reference centers for narcolepsy in France and 751 controls (700 adults, 51 children) from the general population...
November 18, 2016: Neurology
https://www.readbyqxmd.com/read/27856657/the-challenge-of-autoinflammatory-syndromes-with-an-emphasis-on-hyper-igd-syndrome
#9
REVIEW
Jos W M van der Meer, Anna Simon
Autoinflammatory syndromes are disorders with an exaggerated inflammatory response, mostly in the absence of an appropriate trigger. Prototypic autoinflammatory syndromes are FMF, hyper-IgD syndrome (also known as mevalonate kinase deficiency), TNF receptor-associated periodic syndrome and cryopyrin-associated periodic syndrome. The clinical phenotypes partly overlap (with fever and acute phase response), but also differ between the various syndromes (e.g. regarding fever pattern, episodic vs chronic inflammation and accompanying clinical signs)...
December 2016: Rheumatology
https://www.readbyqxmd.com/read/27854543/obsessive-compulsive-disorder-tics-and-autoinflammatory-diseases-beyond-pandas
#10
Blanca Garcia-Delgar, Astrid Morer, Maxwell J Luber, Barbara J Coffey
No abstract text is available yet for this article.
November 2016: Journal of Child and Adolescent Psychopharmacology
https://www.readbyqxmd.com/read/27828627/inflammasomes-and-dermatology
#11
Daniel Coelho de Sá, Cyro Festa
Inflammasomes are intracellular multiprotein complexes that comprise part of the innate immune response. Since their definition, inflammasome disorders have been linked to an increasing number of diseases. Autoinflammatory diseases refer to disorders in which local factors lead to the activation of innate immune cells, causing tissue damage when in the absence of autoantigens and autoantibodies. Skin symptoms include the main features of monogenic inflammasomopathies, such as Cryopyrin-Associated Periodic Syndromes (CAPS), Familial Mediterranean Fever (FMF), Schnitzler Syndrome, Hyper-IgD Syndrome (HIDS), PAPA Syndrome, and Deficiency of IL-1 Receptor Antagonist (DIRA)...
September 2016: Anais Brasileiros de Dermatologia
https://www.readbyqxmd.com/read/27796411/-pyoderma-gangrenosum-and-sweet-s-syndrome-cutaneous-manifestations-of-autoinflammatory-disorders
#12
B Meier, J-T Maul, L E French
Pyoderma gangrenosum and Sweet's syndrome are rare diseases that belong to the group of neutrophilic dermatoses and share several common characteristics. Although the two disorders differ clinically from each other, both diseases show pronounced dermal infiltration of neutrophils without evidence of primary vasculitis and respond well to immunosuppressive drugs. In addition, both diseases are often associated with other systemic and hematological disorders. Recent findings show that the neutrophil dermatoses can be considered as cutaneous manifestations of autoinflammation, demonstrating an interesting new aspect in the development of the diseases and additional therapeutic avenues...
December 2016: Der Hautarzt; Zeitschrift Für Dermatologie, Venerologie, und Verwandte Gebiete
https://www.readbyqxmd.com/read/27791949/demographic-clinical-and-therapeutic-findings-in-a-monocentric-cohort-of-adult-patients-with-suspected-pfapa-syndrome
#13
Antonio Vitale, Ida Orlando, Giuseppe Lopalco, Giacomo Emmi, Marco Cattalini, Bruno Frediani, Mauro Galeazzi, Florenzo Iannone, Donato Rigante, Luca Cantarini
OBJECTIVES: Periodic fever, aphthous stomatitis, pharyngitis, and cervical adenopathy (PFAPA) syndrome is a non-Mendelian autoinflammatory disorder until now considered to be specifically limited to paediatric age. Recently, an increasing number of reports seems to suggest that PFAPA syndrome, diagnosed by the Marshall criteria revised by Thomas et al., can also affect adults. METHODS: The Marshall/Thomas criteria have been applied to 989 adult patients presenting for recurrent fever episodes: all patients enrolled were reviewed for demographic, clinical, and therapeutic data...
September 2016: Clinical and Experimental Rheumatology
https://www.readbyqxmd.com/read/27783881/the-emergence-of-the-il-36-cytokine-family-as-novel-targets-for-inflammatory-diseases
#14
Patrick T Walsh, Padraic G Fallon
The recently discovered interleukin (IL)-36 family of cytokines form part of the broader IL-1 family and are emerging as important mediators of inflammatory disease. The IL-36 subfamily consists of three ligands-IL-36α, IL-36β, and IL-36γ-and the natural antagonist IL-36Ra. The cytokines exert their effects through a specific IL-36 receptor consisting of IL-36R and IL-1RAcP chains. IL-36 cytokines can direct both innate and adaptive immune responses by acting on parenchymal, stromal, and specific immune cell subsets...
October 26, 2016: Annals of the New York Academy of Sciences
https://www.readbyqxmd.com/read/27770579/febrile-infection-related-epilepsy-syndrome-treated-with-anakinra
#15
Daniel L Kenney-Jung, Annamaria Vezzani, Robert J Kahoud, Reghann G LaFrance-Corey, Mai-Lan Ho, Theresa Wampler Muskardin, Elaine C Wirrell, Charles L Howe, Eric T Payne
Febrile infection-related epilepsy syndrome (FIRES) is a devastating epileptic encephalopathy with limited treatment options and an unclear etiology. Anakinra is a recombinant version of the human interleukin-1 receptor antagonist used to treat autoinflammatory disorders. This is the first report of anakinra for treatment of a child with super-refractory status epilepticus secondary to FIRES. Anakinra was well tolerated and effective. Cerebral spinal fluid analysis revealed elevated levels of proinflammatory cytokines before treatment that normalized on anakinra, suggesting a potential pathogenic role for neuroinflammation in FIRES...
October 22, 2016: Annals of Neurology
https://www.readbyqxmd.com/read/27760547/secondary-bladder-amyloidosis-with-familial-mediterranean-fever-in-a-living-donor-kidney-transplant-recipient-a-case-report
#16
Sentaro Imamura, Shintaro Narita, Ryuta Nishikomori, Hiroshi Tsuruta, Kazuyuki Numakura, Atsushi Maeno, Mitsuru Saito, Takamitsu Inoue, Norihiko Tsuchiya, Hiroshi Nanjo, Toshio Heike, Shigeru Satoh, Tomonori Habuchi
BACKGROUND: Secondary bladder amyloidosis is an extremely rare disease, resulting from a chronic systematic inflammatory disorder associated with amyloid deposits. Although uncommon in Japan, familial Mediterranean fever (FMF) is a hereditary autoinflammatory disease characterized by recurrent episodes of fever of short duration and serositis and is frequently associated with systemic amyloidosis. Here, we present a case of a Japanese patient complaining of fever and macroscopic hematuria after a living donor renal transplantation...
October 19, 2016: BMC Research Notes
https://www.readbyqxmd.com/read/27702442/autoinflammatory-diseases-in-adults-clinical-characteristics-and-prognostic-implications
#17
A González García, J L Patier de la Peña, N Ortego Centeno
Autoinflammatory diseases are clinical conditions with inflammatory manifestations that present in a periodic or persistent manner and are caused by acquired or hereditary disorders of the innate immune response. In general, these diseases are more common in childhood, but cases have been reported in adults and are therefore important for all specialists. There are few references on these diseases in adults due to their low prevalence and underdiagnosis. The aim of this study is to review the scientific literature on these disorders to systematise their clinical, prognostic and treatment response characteristics in adults...
October 1, 2016: Revista Clínica Española
https://www.readbyqxmd.com/read/27699261/anakinra-as-a-diagnostic-challenge-and-treatment-option-for-systemic-autoinflammatory-disorders-of-undefined-etiology
#18
Stephanie R Harrison, Dennis McGonagle, Sharmin Nizam, Stephen Jarrett, Jeroen van der Hilst, Michael F McDermott, Sinisa Savic
BACKGROUND: Some adult patients presenting with unexplained pyrexia, serositis, skin rashes, arthralgia, myalgia, and other symptoms commonly found in autoinflammatory disorders may not fit a specific diagnosis, either because their clinical phenotype is nondiagnostic or genetic tests are negative. We used the term undifferentiated systemic autoinflammatory disorder (uSAID) to describe such cases. Given that well-defined autoinflammatory diseases show responses to IL-1 blockade, we evaluated whether anakinra was useful for both diagnosing and treating uSAID patients...
May 5, 2016: JCI Insight
https://www.readbyqxmd.com/read/27697817/lesson-of-the-month-1-autoinflammatory-syndromes-an-unusual-cause-of-pyrexia-of-unknown-origin
#19
Ravi Varma, Gary Campbell, Helen Baxendale
Autoinflammatory diseases are disorders of innate immunity and are characterised by recurring and unprovoked episodes of inflammation. We present a case of episodic pyrexia, associated with a significant inflammatory response, in a young man in whom the cause had remained unexplained since infancy. He was eventually diagnosed with hyperimmunoglobulinaemia D syndrome (HIDS); one of the autoinflammatory syndromes.
October 2016: Clinical Medicine: Journal of the Royal College of Physicians of London
https://www.readbyqxmd.com/read/27682255/the-burgeoning-field-of-innate-immune-mediated-disease-and-autoinflammation
#20
REVIEW
Daniel Peckham, Thomas Scambler, Sinisa Savic, Michael F McDermott
Immune-mediated autoinflammatory diseases are occupying an increasingly prominent position among the pantheon of debilitating conditions that afflict humankind. This review focuses on some of the key developments that have occurred since the original description of autoinflammatory disease in 1999, and focuses on underlying mechanisms that trigger autoinflammation. The monogenic autoinflammatory disease range has expanded considerably during that time, and now includes a broad spectrum of disorders, including relatively common conditions such as cystic fibrosis and subsets of systemic lupus erythematosus...
September 29, 2016: Journal of Pathology
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