Database : MEDLINE
Search on : Hereditary and Autoinflammatory and Diseases [Words]
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[PMID]: 29335349
[Au] Autor:Deshayes S; Georgin-Lavialle S; Hot A; Durel CA; Hachulla E; Rouanes N; Audia S; Le Gallou T; Quartier P; Urbanski G; Messer L; Klein S; de Boysson H; Bienvenu B; Grateau G; Aouba A
[Ad] Address:From the Department of Internal Medicine, Université Caen Normandie, Medical School, CHU de Caen, Caen; Department of Internal Medicine, Tenon Hospital, University Pierre and Marie Curie-Paris 6; Department of Pediatric Immunology, Hematology and Rheumatology, Hôpital Necker, Paris; Department of In
[Ti] Title:Efficacy of Continuous Interleukin 1 Blockade in Mevalonate Kinase Deficiency: A Multicenter Retrospective Study in 13 Adult Patients and Literature Review.
[So] Source:J Rheumatol;45(3):425-429, 2018 Mar.
[Is] ISSN:0315-162X
[Cp] Country of publication:Canada
[La] Language:eng
[Ab] Abstract:OBJECTIVE: To report efficacy and tolerance of interleukin 1 blockade in adult patients with mevalonate kinase deficiency (MKD). METHODS: We retrospectively collected data on 13 patients with MKD who had received anakinra (n = 10) and canakinumab (n = 7). RESULTS: Anakinra resulted in complete or partial remission in 3/10 and 5/10 patients, respectively, and no efficacy in 2/10, but a switch to canakinumab led to partial remission. Canakinumab resulted in complete or partial remission in 3/7 and 4/7 patients, respectively. CONCLUSION: These data support frequent partial responses, showing a better response with canakinumab. The genotype and therapeutic outcomes correlation should help in the personalization of treatment.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1801
[Cu] Class update date: 180302
[Lr] Last revision date:180302
[St] Status:In-Data-Review
[do] DOI:10.3899/jrheum.170684

  2 / 570 MEDLINE  
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[PMID]: 29203393
[Au] Autor:Sharma D; Malik A; Guy CS; Karki R; Vogel P; Kanneganti TD
[Ad] Address:Department of Immunology, St. Jude Children's Research Hospital, Memphis, Tennessee.
[Ti] Title:Pyrin Inflammasome Regulates Tight Junction Integrity to Restrict Colitis and Tumorigenesis.
[So] Source:Gastroenterology;, 2017 Dec 02.
[Is] ISSN:1528-0012
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:BACKGROUND & AIMS: Inflammatory bowel diseases (IBD) increase risk for colorectal cancer. Mutations in the Mediterranean fever gene (MEFV or pyrin) are associated with hereditary autoinflammatory disease and severe IBD. Expression of MEFV, a sensor protein that the initiates assembly of the inflammasome complex, is increased in colon biopsies from patients with IBD. We investigated the role of pyrin in intestinal homeostasis in mice. METHODS: Mefv mice and C57/BL6 mice (controls) were given azoxymethane followed by multiple rounds of dextran sodium sulfate (DSS) to induce colitis and tumorigenesis. In some experiments, Mefv mice were given injections of recombinant interleukin 18 (rIL18) or saline (control) during DSS administration. Colon tissues were collected at different time points during colitis development and analyzed by histology, immunohistochemistry, immunoblots, or ELISAs (to measure cytokines). Spleen and mesenteric lymph node were collected, processed, and analyzed by flow cytometry. Colon epithelial permeability was measured in mice with colitis by gavage of fluorescent dextran and quantification of serum levels. RESULTS: MEFV was expressed in colons of control mice and expression increased during chronic and acute inflammation; high levels were detected in colon tumor and adjacent non-tumor tissues. Mefv-/- mice developed more severe colitis than control mice, with a greater extent of epithelial hyperplasia and a larger tumor burden. Levels of inflammatory cytokines (IL6) and chemokines were significantly higher in colons of Mefv-/- mice than control mice following colitis induction, whereas the level IL18, which depends on the inflammasome for maturation and release, was significantly lower in colons of Mefv-/- mice. Mefv-/- mice had increased epithelial permeability following administration of DSS than control mice, and loss of the tight junction proteins occludin and claudin-2 from intercellular junctions. STAT3 was activated (phosphorylated) in inflamed colon tissues from Mefv-/-, which also had increased expression of stem cell markers (OLFM4, BMI1, and MSI1) compared with colons from control mice. Administration of rIL18 to Mefv-/- mice reduced epithelial permeability, intestinal inflammation, the severity of colitis, and colon tumorigenesis. CONCLUSIONS: In studies of mice with DSS-induced colitis, we found that pyrin (MEFV) is required for inflammasome activation and IL18 maturation, which promote intestinal barrier integrity and prevent colon inflammation and tumorigenesis. Strategies to increase activity of MEFV or IL18 might be developed for the treatment of IBD and prevention of colitis-associated tumorigenesis.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1712
[Cu] Class update date: 180302
[Lr] Last revision date:180302
[St] Status:Publisher

  3 / 570 MEDLINE  
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[PMID]: 28454496
[Au] Autor:La Torre F; Caparello MC; Cimaz R
[Ad] Address:a Pediatric Rheumatology Regional Center, Department of Pediatrics , Antonio Perrino Hospital , Brindisi , Puglia , Italy.
[Ti] Title:Canakinumab for the treatment of TNF-receptor associated periodic syndrome.
[So] Source:Expert Rev Clin Immunol;13(6):513-523, 2017 06.
[Is] ISSN:1744-8409
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:INTRODUCTION: 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-1ß, resulting in uncontrolled inflammatory reactions. Furthermore, TNFRSF1A gene mutations result in intracellular stress ultimately leading to increased production of interleukin-1ß, but the exact mechanism referred to in the connection between TNFRSF1A mutation and increased release of IL-1ß, is still under study. This explains why IL-1 inhibition treatment can be effective in treating TRAPS patients. The purpose of this review is to discuss the safety and efficacy of canakinumab, a high-affinity human monoclonal anti IL-1ß antibody. Areas covered: The data obtained from case reports, case series, Phase II study and a phase III randomized, double-blind, placebo controlled trial have been analyzed. Efficacy and safety profiles of canakinumab are discussed. Expert commentary: Was discussed an overview of treatment options in TRAPS patients. The understanding of pathogenesis of TNF-receptor-associated periodic syndrome led to realize why TRAPS patients respond to IL-1 inhibition. Canakinumab became approved for the treatment in TRAPS patients very recently.
[Mh] MeSH terms primary: Anti-Inflammatory Agents/therapeutic use
Antibodies, Monoclonal/therapeutic use
Fever/therapy
Hereditary Autoinflammatory Diseases/therapy
Immunotherapy/methods
Interleukin-1beta/immunology
[Mh] MeSH terms secundary: Clinical Trials as Topic
Drug Approval
Fever/genetics
Fever/immunology
Hereditary Autoinflammatory Diseases/genetics
Hereditary Autoinflammatory Diseases/immunology
Humans
Mutation/genetics
Receptors, Tumor Necrosis Factor, Type I/genetics
[Pt] Publication type:JOURNAL ARTICLE; REVIEW
[Nm] Name of substance:0 (Anti-Inflammatory Agents); 0 (Antibodies, Monoclonal); 0 (Interleukin-1beta); 0 (Receptors, Tumor Necrosis Factor, Type I); 37CQ2C7X93 (canakinumab)
[Em] Entry month:1801
[Cu] Class update date: 180215
[Lr] Last revision date:180215
[Js] Journal subset:IM
[Da] Date of entry for processing:170430
[St] Status:MEDLINE
[do] DOI:10.1080/1744666X.2017.1324783

  4 / 570 MEDLINE  
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[PMID]: 29229448
[Au] Autor:Ibáñez Alcalde MLM; Caldevilla Asenjo L; Calvo Rey C; García-Mon Marañés F; Blázquez Gamero D; Saavedra Lozano J; Navarro Gómez ML; Hernández-Sampelayo Matos T; Santos Sebastián M
[Ad] Address:Servicio de Pediatría, Hospital de Poniente, El Ejido, Almería, España. Electronic address: mmibanezalcalde@gmail.com.
[Ti] Title:Características y evolución de una cohorte de niños con síndrome PFAPA en la Comunidad de Madrid. Characteristics and Disease Course in a Cohort of Children With PFAPA Syndrome in the Community of Madrid, Spain.
[So] Source:Reumatol Clin;, 2017 Dec 08.
[Is] ISSN:1885-1398
[Cp] Country of publication:Spain
[La] Language:eng; spa
[Ab] Abstract:INTRODUCTION: PFAPA syndrome is an autoinflammatory disease whose diagnosis is mainly clinical. Several treatments have been proposed; among them, tonsillectomy could be an effective one. MATERIAL AND METHODS: Retrospective multicenter study. Patients included were diagnosed with PFAPA syndrome, according to the Thomas criteria, in 3 hospitals in Madrid between 2009-2013. RESULTS: Thirty-two cases were included. Median age at onset and at diagnosis were 32 months (IQR 24-44) and 47.5 months (IQR 37-60), respectively. There were increases in leukocytes (13,580/µL [IQR 8,200-16,600] vs. 8,300/µL [IQR 7,130-9,650], P=.005), neutrophils (9,340/µL [IQR 5,900-11,620] vs. 3,660/µL [IQR 2,950-4,580], P=.002) and C-reactive protein (11.0mg/dL [IQR 6.6-12.7] vs. 0.2mg/dL [IQR 0.1-0.6], P=.003) during febrile episodes. In all, 80.8% of patients reported remission of symptoms within 24h after oral corticosteroid therapy. Fourteen patients were tonsillectomized. In 11, the febrile episodes stopped while, in 3, the frequency was reduced; there were 2 cases of postoperative bleeding. The disease was resolved in 56.3% of the patients, at a median age of 60 months (IQR 47-95), with similar duration in patients who were tonsillectomized and those who were not. CONCLUSIONS: We present a large cohort of children with PFAPA syndrome, with clinical and analytical features similar to those described in the literature, and a good response to corticosteroids and a high resolution rate of symptoms after tonsillectomy.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1712
[Cu] Class update date: 180212
[Lr] Last revision date:180212
[St] Status:Publisher

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[PMID]: 29357887
[Au] Autor:Hinze CH; Holzinger D; Lainka E; Haas JP; Speth F; Kallinich T; Rieber N; Hufnagel M; Jansson AF; Hedrich C; Winowski H; Berger T; Foeldvari I; Ganser G; Hospach A; Huppertz HI; Mönkemöller K; Neudorf U; Weißbarth-Riedel E; Wittkowski H; Horneff G; Foell D; PRO-KIND SJIA project collaborators
[Ad] Address:Department of Pediatric Rheumatology and Immunology, University Hospital Münster, Münster, Albert-Schweitzer-Campus 1, Building W30, 48149, Münster, Germany. claas.hinze@ukmuenster.de.
[Ti] Title:Practice and consensus-based strategies in diagnosing and managing systemic juvenile idiopathic arthritis in Germany.
[So] Source:Pediatr Rheumatol Online J;16(1):7, 2018 Jan 22.
[Is] ISSN:1546-0096
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:BACKGROUND: Systemic juvenile idiopathic arthritis (SJIA) is an autoinflammatory disease associated with chronic arthritis. Early diagnosis and effective therapy of SJIA is desirable, so that complications are avoided. The PRO-KIND initiative of the German Society for Pediatric Rheumatology (GKJR) aims to define consensus-based strategies to harmonize diagnostic and therapeutic approaches in Germany. METHODS: We analyzed data on patients diagnosed with SJIA from 3 national registries in Germany. Subsequently, via online surveys and teleconferences among pediatric rheumatologists with a special expertise in the treatment of SJIA, we identified current diagnostic and treatment approaches in Germany. Those were harmonized via the formulation of statements and, supported by findings from a literature search. Finally, an in-person consensus conference using nominal group technique was held to further modify and consent the statements. RESULTS: Up to 50% of patients diagnosed with SJIA in Germany do not fulfill the International League of Associations for Rheumatology (ILAR) classification criteria, mostly due to the absence of chronic arthritis. Our findings suggest that chronic arthritis is not obligatory for the diagnosis and treatment of SJIA, allowing a diagnosis of probable SJIA. Malignant, infectious and hereditary autoinflammatory diseases should be considered before rendering a diagnosis of probable SJIA. There is substantial variability in the initial treatment of SJIA. Based on registry data, most patients initially receive systemic glucocorticoids, however, increasingly substituted or accompanied by biological agents, i.e. interleukin (IL)-1 and IL-6 blockade (up to 27.2% of patients). We identified preferred initial therapies for probable and definitive SJIA, including step-up patterns and treatment targets for the short-term (resolution of fever, decrease in C-reactive protein by 50% within 7 days), the mid-term (improvement in physician global and active joint count by at least 50% or a JADAS-10 score of maximally 5.4 within 4 weeks) and the long-term (glucocorticoid-free clinically inactive disease within 6 to 12 months), and an explicit treat-to-target strategy. CONCLUSIONS: We developed consensus-based strategies regarding the diagnosis and treatment of probable or definitive SJIA in Germany.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1801
[Cu] Class update date: 180201
[Lr] Last revision date:180201
[St] Status:In-Process
[do] DOI:10.1186/s12969-018-0224-2

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[PMID]: 29198619
[Au] Autor:Rigante D
[Ad] Address:Institute of Pediatrics, Fondazione Policlinico Universitario "A. Gemelli", Università Cattolica Sacro Cuore, Rome, Italy. Electronic address: drigante@gmail.com.
[Ti] Title:New mosaic tiles in childhood hereditary autoinflammatory disorders.
[So] Source:Immunol Lett;193:67-76, 2018 Jan.
[Is] ISSN:1879-0542
[Cp] Country of publication:Netherlands
[La] Language:eng
[Ab] Abstract:The protean clinical phenotypes of hereditary autoinflammatory disorders (HAID) are caused by abnormal activation of innate immunity and consist of seemingly unprovoked inflammatory flares localized to multiple organs, such as the skin, joints, serosal membranes, gut, and central nervous system. Different mutations in genes implied in activation of the interleukin-1 (IL-1)-structured inflammasome, cytoskeletal signaling and apoptosis contribute to the pathogenesis of different HAID, which mostly start in childhood with self-limited flares unrelated to infectious agents, autoantibody production or autoreactive cells. Though IL-1 remains pivotal in many inflammasome-mediated diseases, other cytokinopathies involving IL-18, nuclear factorκ-B, interferons, and tumor necrosis factor have provided new horizons in the definition of HAID of children: the list of HAID has expanded as a consequence of a better understanding of their pathogenetic molecular mechanisms and also application of new genetic technologies. However, diagnosis of most HAID is clinical and focused on several evidence-based criteria sets: their discrimination remains challenging for unexperienced pediatricians as there are no universally accepted algorithms, and a still relevant number of patients may linger without any clarifying genetic analysis, whose interpretation combined with processing of treatment options should be discussed on a multidisciplinary basis.
[Pt] Publication type:JOURNAL ARTICLE; REVIEW
[Em] Entry month:1712
[Cu] Class update date: 171217
[Lr] Last revision date:171217
[St] Status:In-Process

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[PMID]: 29214588
[Au] Autor:Baldovino S; Menegatti E; Roccatello D; Sciascia S
[Ad] Address:Department of Clinical and Biological Sciences, Turin University, Turin, Italy. simone.baldovino@unito.it.
[Ti] Title:Immunological Rare Diseases.
[So] Source:Adv Exp Med Biol;1031:497-509, 2017.
[Is] ISSN:0065-2598
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:The immune system is delegated to defend the body from attacks from outside or inside. Many diseases can affect immune system reducing its ability to defend self or inducing an abnormal response against external or internal antigens. Rare diseases affecting immune system present some issue in common with other rare diseases and some peculiarities due to the huge variability in the disease's expression. However, a correct estimation of the epidemiology of rare disorders is necessary for evaluating the prognosis and the responses to new therapies, for planning proper public health services, and finally to establish fair and sustainable prices for innovative medicines. Due to the enormous number of different rare immunological diseases, in this chapter we are going to analyse some of them that can be considered paradigmatic of the various expressions of disease.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1712
[Cu] Class update date: 171207
[Lr] Last revision date:171207
[St] Status:In-Data-Review
[do] DOI:10.1007/978-3-319-67144-4_26

  8 / 570 MEDLINE  
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[PMID]: 29094181
[Au] Autor:Hintenberger R; Falkinger A; Danninger K; Pieringer H
[Ad] Address:Academic Research Unit, 2nd Department of Internal Medicine, Kepler University Hospital, Med Campus III, Krankenhausstr. 9, 4020, Linz, Austria. rainer.hintenberger@kepleruniklinikum.at.
[Ti] Title:Cardiovascular disease in patients with autoinflammatory syndromes.
[So] Source:Rheumatol Int;, 2017 Nov 01.
[Is] ISSN:1437-160X
[Cp] Country of publication:Germany
[La] Language:eng
[Ab] Abstract:Autoinflammatory syndromes (AIS) are characterized by recurring events of inflammation, leading to a variety of organ manifestations and fever attacks. A subgroup of AIS is commonly referred to as hereditary periodic fever syndromes (HPFS). There is substantial evidence that autoimmune diseases such as rheumatoid arthritis and systemic lupus erythematosus are strongly associated with cardiovascular morbidity and mortality. The link between AIS and cardiovascular disease is not that clear, even if the concept of continuous inflammation as a risk factor for cardiovascular disease is widely accepted. Research on the association of AIS and cardiovascular disease is increasing within the last years. In this review, we will discuss the association of several AIS with cardiovascular disease. Based on the rarity of some entities, lack of data, however, led to exclusion of some rare AIS. Especially, for Behcet's disease (BD), adult-onset Still's disease (AOSD), and Familial Mediterranean fever (FMF), there is an association with a number of cardiovascular abnormalities. BD is the AIS, which is most strongly associated with manifestation in the arterial and venous system. AOSD is strongly associated with cardiac inflammation (peri-/myocarditis). FMF patients are likely to suffer from serositis. Of note, there seems to be a link between variants of AOSD as well as FMF and idiopathic recurrent acute pericarditis.
[Pt] Publication type:JOURNAL ARTICLE; REVIEW
[Em] Entry month:1711
[Cu] Class update date: 171102
[Lr] Last revision date:171102
[St] Status:Publisher
[do] DOI:10.1007/s00296-017-3854-7

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[PMID]: 29032440
[Au] Autor:Jain A; Misra DP; Sharma A; Wakhlu A; Agarwal V; Negi VS
[Ad] Address:Department of Clinical Immunology, Sanjay Gandhi Postgraduate Institute of Medical Sciences (SGPGIMS), Lucknow, 226014, India.
[Ti] Title:Vasculitis and vasculitis-like manifestations in monogenic autoinflammatory syndromes.
[So] Source:Rheumatol Int;, 2017 Oct 14.
[Is] ISSN:1437-160X
[Cp] Country of publication:Germany
[La] Language:eng
[Ab] Abstract:Monogenic autoinflammatory syndromes are a rare group of disorders characterized by periodic episodes of systemic inflammation of endogenous origin. Sometimes, these diseases may present with features akin to vasculitis. We conducted a literature review on such vasculitic manifestations in described monogenic autoinflammatory syndromes utilizing the Online Mendelian Inheritance in Man (OMIM), Medline, and Scopus databases. Our search identified that Familial Mediterranean fever (FMF) can manifest with features of either small, medium, large, or variable-vessel vasculitis. Stimulator of interferon gene (STING)-associated vasculopathy of infancy (SAVI) is an interferonopathy that can mimic the presentation of medium-vessel or small-vessel vasculitis, whereas deficiency of adenosine deaminase 2 (DADA2) is another such mimic of medium-vessel vasculitis, associated in a significant number of patients with features of immunodeficiency. Occasional reports exist of vasculitic manifestations in tumor necrosis factor (TNF) receptor-associated periodic fever syndrome (TRAPS) and chronic infantile neurologic cutaneous and articular disorder (CINCA), whereas mevalonate kinase deficiency can also mimic the presentation of small- or medium-vessel vasculitis. Clinicians should be aware of the possibility of autoinflammatory disease presenting as vasculitis to diagnose and treat the same appropriately.
[Pt] Publication type:JOURNAL ARTICLE; REVIEW
[Em] Entry month:1710
[Cu] Class update date: 171016
[Lr] Last revision date:171016
[St] Status:Publisher
[do] DOI:10.1007/s00296-017-3839-6

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[PMID]: 28781105
[Au] Autor:Plaçais L; Mekinian A; Bornes M; Poujol-Robert A; Bigé N; Maury E; Fain O
[Ad] Address:Service de Médecine Interne and Inflammation-Immunopathology-Biotherapy Department (DHU i2B), AP-HP, Hôpital Saint-Antoine, Sorbonne Universités, UPMC University Paris 06, F-75012, Paris, France.
[Ti] Title:Adult's onset Still disease occurring during pregnancy: Case-report and literature review.
[So] Source:Semin Arthritis Rheum;, 2017 Jul 10.
[Is] ISSN:1532-866X
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract: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. Ferritin levels were at 41 000 ng/mL with glycosylated ferritin less than 5%. The diagnosis of AOSD was stated and because of persistent fever and polyarthralgias, after exclusion of active infection, steroids were started (prednisone 1 mg/kg) associated with colchicine, which allowed clinical remission and C-reactive protein significant decrease. CONCLUSION: Pregnancy-revealed AOSD appears to be a specifical subset of the disease with a systemic course, flares on first and second trimester, obstetrical complications such as prematurity and IUGR sometimes leading to life-threatening situations requiring parenteral corticotherapy and intravenous immunoglobulins.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1708
[Cu] Class update date: 170807
[Lr] Last revision date:170807
[St] Status:Publisher


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