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autoinflammatory syndrome

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https://www.readbyqxmd.com/read/28722725/the-monogenic-autoinflammatory-diseases-define-new-pathways-in-human-innate-immunity-and-inflammation
#1
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
#2
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/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/28715916/drug-management-of-neutrophilic-dermatoses
#4
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 18, 2017: Expert Review of Clinical Pharmacology
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/28686532/management-of-hydrocephalus-associated-with-autoimmune-diseases-a-series-of-19-cases
#7
Baitao Ma, Hao Wu, Hexiang Yin, Jianbo Chang, Li Wang, Renzhi Wang, Wenbin Ma, Yongning Li, Jian Guan, Jinjing Liu, Junji Wei
OBJECTIVES: To analyze the diagnosis and treatment of hydrocephalus associated with autoimmune diseases and to explore the possible mechanism of hydrocephalus in these patients. METHODS: A retrospective case series study was conducted at Peking Union Medical College Hospital, Beijing, China. Files were retrieved from the hospital archives by screening records from Jan 1990 to Jan 2016. Medical records were screened for data regarding (1) the number of patients diagnosed with hydrocephalus associated with autoimmune diseases, (2) the clinical manifestation of hydrocephalus associated with autoimmune disease, and (3) the outcomes of these patients treated with medication or ventriculoperitoneal shunt (VPS)...
July 7, 2017: Autoimmunity
https://www.readbyqxmd.com/read/28668093/serum-cytokine-profile-in-pediatric-sweet-s-syndrome-a-case-report
#8
Yoshihiko Takano, Hisanori Fujino, Akihiro Yachie, Shin-Ichi Sumimoto
BACKGROUND: Sweet's syndrome is characterized by fever, leukocytosis, and tender erythematous papules or nodules. It is a rare condition, particularly in the pediatric population, and has recently been proposed to be an autoinflammatory disease that occurs due to innate immune system dysfunction, involving several cytokines, which causes abnormally increased inflammation. To the best of our knowledge, no report has documented the cytokine profile in a pediatric patient with Sweet's syndrome...
July 2, 2017: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/28657591/assessing-autophagy-in-mouse-models-and-patients-with-systemic-autoimmune-diseases
#9
REVIEW
Fengjuan Wang, Baihui Li, Nicolas Schall, Maud Wilhelm, Sylviane Muller
Autophagy is a tightly regulated mechanism that allows cells to renew themselves through the lysosomal degradation of proteins, which are misfolded or produced in excess, and of damaged organelles. In the context of immunity, recent research has specially attempted to clarify its roles in infection, inflammation and autoimmunity. Autophagy has emerged as a spotlight in several molecular pathways and trafficking events that participate to innate and adaptive immunity. Deregulation of autophagy has been associated to several autoimmune diseases, in particular to systemic lupus erythematosus...
June 28, 2017: Cells
https://www.readbyqxmd.com/read/28631068/autoinflammatory-diseases-with-periodic-fevers
#10
REVIEW
Erdal Sag, Yelda Bilginer, Seza Ozen
PURPOSE OF REVIEW: One purpose of this review was to raise awareness for the new autoinflammatory syndromes. These diseases are increasingly recognized and are in the differential diagnosis of many disease states. We also aimed to review the latest recommendations for the diagnosis, management, and treatment of these patients. RECENT FINDINGS: Familial Mediterranean fever (FMF), cryopyrin-associated periodic syndrome (CAPS), tumor necrosis factor receptor-associated periodic fever syndrome (TRAPS), and hyperimmunoglobulinemia D and periodic fever syndrome/mevalonate kinase deficiency (HIDS/MVKD) are the more common autoinflammatory diseases that are characterized by periodic fevers and attacks of inflammation...
July 2017: Current Rheumatology Reports
https://www.readbyqxmd.com/read/28628471/haematological-involvement-associated-with-a-mild-autoinflammatory-phenotype-in-two-patients-carrying-the-e250k-mutation-of-pstpip1
#11
Elena Belelli, Chiara Passarelli, Manuela Pardeo, Dirk Holzinger, Fabrizio De Benedetti, Antonella Insalaco
OBJECTIVES: Hyperzincaemia/hypercalprotectinemia (Hz/Hc) syndrome is a recently described condition caused by a specific de novo mutation (E250K) affecting PSTPIP1 gene. It has a phenotype distinct from classical pyogenic arthritis, pyoderma gangrenosum, and acne (PAPA) syndrome that includes severe systemic and cutaneous inflammation, hepatosplenomegaly, arthritis without sequelae, pancytopenia and failure to thrive. METHODS: We describe an 8-year-old boy who presented recurrent right knee swelling mimicking septic arthritis and persistent bone marrow involvement, without cutaneous involvement...
June 19, 2017: Clinical and Experimental Rheumatology
https://www.readbyqxmd.com/read/28604422/no-shortcuts-new-findings-reinforce-why-nuance-is-the-rule-in-genetic-autoinflammatory-syndromes
#12
Paul Tsoukas, Scott W Canna
PURPOSE OF REVIEW: Practitioners dazed by the evolving concept of autoinflammation are in good company. Despite the clinical challenges autoinflammatory patients present, their study has been fundamental to our understanding of basic human inflammation. This review will focus on the ways in which recent discoveries in genetically mediated autoinflammation broaden and refine the concept. RECENT FINDINGS: Major developments in pyrin inflammasome biology, defective ubiquitination, and the hyperferritinemic syndromes will be highlighted...
September 2017: Current Opinion in Rheumatology
https://www.readbyqxmd.com/read/28589389/-safety-and-efficacy-of-off-label-use-of-biologic-therapies-in-patients-with-inflammatory-rheumatic-diseases-refractory-to-standard-of-care-therapy-data-from-a%C3%A2-nationwide-german-registry-graid2
#13
F Proft, H Schulze-Koops, M Grunke, E Schrezenmeier, F Halleck, J Henes, L Unger, E Schmidt, C Fiehn, A Jacobi, C Iking-Konert, C Kneitz, R E Schmidt, B Bannert, R E Voll, R Fischer-Betz, I Kötter, H P Tony, J Holle, M Aringer, A Erler, F Behrens, G R Burmester, T Dörner
BACKGROUND: The German Registry of Autoimmune Diseases 2 (GRAID2) is a retrospective, non-interventional, multicenter registry study collecting data from patients with inflammatory, mainly rheumatic diseases refractory to standard of care therapy and treated with an off-label biologic therapy. The retrospective documentation comprised case history, diagnosis, course of disease (including safety and global efficacy). The objective was to evaluate the global clinical outcome and safety of off-label biologic therapy in clinical practice...
June 6, 2017: Zeitschrift Für Rheumatologie
https://www.readbyqxmd.com/read/28589388/-efficacy-and-safety-analysis-of-off-label-treatment-with-biologics-in-autoinflammatory-diseases-experiences-from-a%C3%A2-german-registry%C3%A2-graid2
#14
F Proft, M Fleck, C Fiehn, H Schulze-Koops, M Witt, T Dörner, J C Henes
OBJECTIVE: To evaluate the safety and efficacy of therapy with biologics in patients with autoinflammatory diseases (AIF) or macrophage activating syndrome (MAS) in a real-life setting in Germany. METHODS: The German Register of Autoimmune Diseases 2 (GRAID2) is a retrospective, non-interventional, multicenter registry collecting data from all patients with inflammatory rheumatic diseases refractory to conventional therapy and treated with initial off-label biologics between August 2006 and December 2013...
June 6, 2017: Zeitschrift Für Rheumatologie
https://www.readbyqxmd.com/read/28588495/a-brief-history-of-il-1-and-il-1-ra-in-rheumatology
#15
Jean-Michel Dayer, Francesca Oliviero, Leonardo Punzi
The history of what, in 1979, was called interleukin-1 (IL-1), orchestrator of leukocyte inter-communication, began many years before then, initially by the observation of fever induction via the endogenous pyrogen (EP) (1974) and then in rheumatology on the role in tissue destruction in rheumatoid diseases via the induction of collagenase and PGE2 in human synovial cells by a mononuclear cell factor (MCF) (1977). Since then, the family has exploded to presently 11 members as well as many membrane-bound and soluble receptor forms...
2017: Frontiers in Pharmacology
https://www.readbyqxmd.com/read/28588486/potential-of-il-1-il-18-and-inflammasome-inhibition-for-the-treatment-of-inflammatory-skin-diseases
#16
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/28586272/pharmacological-treatment-options-for-cryopyrin-associated-periodic-syndromes
#17
Emmanuelle C Landmann, Ulrich A Walker
Cryopyrin-associated periodic syndromes (CAPS) are rare monogenic autoinflammatory diseases, comprising a spectrum of phenotypes of varying severity. CAPS are associated with gain-of-function mutations in the NLRP3 inflammasome, a multiprotein complex critical for the activation of IL-1ß, and are characterized by episodes of fever, urticaria-like rash, musculoskeletal, ocular, and neurological symptoms. Areas covered: Accounting for the pivotal role of IL-1ß in the pathogenesis of CAPS, three therapeutic options, all blocking the action of IL-1ß, are currently approved: anakinra, a recombinant IL-1 receptor antagonist, the IL-1 trap rilonacept and canakinumab, a monoclonal anti-IL-1ß antibody...
June 20, 2017: Expert Review of Clinical Pharmacology
https://www.readbyqxmd.com/read/28583784/periodic-fever-from-still-s-disease-to-muckle-wells-syndrome
#18
Marta Nataya Solís Marquínez, Edilia García Fernández, Joaquín Morís de la Tassa
Muckle-Wells syndrome is a systemic autoinflammatory disease included in the group of hereditary periodic febrile syndromes. We report the case of a patient with this rare disease to call the attention to the singularity of this condition, its low incidence, its atypical presentation and the subsequent delay in the diagnosis, which is reached when late and devastating consequences have taken place. In this case, the first-line therapy, anti-interleukin 1 (IL-1), failed to control the disease. Nevertheless, the IL-6 inhibitor, tocilizumab, proved effective, achieving the total remission of nephrotic syndrome associated with AA secondary amyloidosis, changing the bleak prognosis of this disease...
June 2, 2017: Reumatología Clinica
https://www.readbyqxmd.com/read/28578473/geoepidemiology-and-immunologic-features-of-autoinflammatory-diseases-a-comprehensive-review
#19
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
#20
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
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