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autoinflammatory syndrome

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
Panayot T Solakov
TRAPS is a very rare disease with an estimated prevalence of about one per million. We present a 53-year-old patient from Bulgaria. The clinical features of the disease are periodic fever, arthralgia, myalgia, rash, abdominal pain and hepatosplenomegaly. Laboratory studies yield leukocytosis, highly elevated levels of CRP, significantly high ESR. Secondary amyloidosis AA is determined. The genetic analysis found a heterozygous T>C nucleotide substance (c.250T>C) in exon 3 of TNFRSF1A gene which is associated with ТRAPS (MIM*191190)...
September 1, 2016: Folia Medica
Gabriela Barcenas-Morales, Peter Jandus, Rainer Döffinger
PURPOSE OF REVIEW: Concise overview of the field of anticytokine autoantibodies with a focus on recent developments. RECENT FINDINGS: Advances in particular in the analysis of autoantibodies to IFNγ, granulocyte-macrophage colony-stimulating factor (GM-CSF) and IFN-1 are presented. The target epitope for anti-IFNγ autoantibodies has been found to have high homology to a protein from Aspergillus suggesting molecular mimicry as a mechanism of breaking self-tolerance...
October 13, 2016: Current Opinion in Allergy and Clinical Immunology
Hagit Peleg, Eldad Ben-Chetrit
PURPOSE OF REVIEW: This article addresses the prevalence and relationship between autoinflammatory diseases and vasculitis. RECENT FINDINGS: Autoimmune diseases (AIDs) are a group of syndromes characterized by episodes of unprovoked inflammation due to dysregulation of the innate immune system. Despite the common occurrence of rashes and other skin lesions in these diseases, vasculitis is reported in only a few. On the other hand, neutrophilic dermatoses are more prevalent...
October 13, 2016: Current Opinion in Rheumatology
Zdeněk Adam, Anna Šedivá, Renata Koukalová, Zdeněk Řehák, Hana Petrášová, Petr Szturz, Zdenka Adamová, Eva Vetešníková, Luděk Pour, Marta Krejčí, Viera Sandecká, Eva Pourová, Zdeňka Čermáková, Sabina Ševčíková, Zdeněk Král, Jiří Mayer
Schnitzlers syndrome is an acquired auto-inflammatory disease of still unclear origin. The Strasbourg criteria were adopted (non-infectious fever, chronic urticaria, changes in the bone structure, leukocytosis and higher values of inflammatory markers - CRP and presence of monoclonal immunoglobulin mostly of type IgM, very rarely of IgG) to establish this diagnosis. The first-choice therapy for this disease is the blocking of interleukin-1 effects. In practice, the interleukin-1 receptor antagonist, anakinra, is the most commonly used...
2016: Vnitr̆ní Lékar̆ství
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
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
Martin Prince Alphonse, Trang T Duong, Chisato Shumitzu, Truong Long Hoang, Brian W McCrindle, Alessandra Franco, Stéphane Schurmans, Dana J Philpott, Martin L Hibberd, Jane Burns, Taco W Kuijpers, Rae S M Yeung
Kawasaki disease (KD) is a multisystem vasculitis that predominantly targets the coronary arteries in children. Phenotypic similarities between KD and recurrent fever syndromes point to the potential role of inflammasome activation in KD. Mutations in NLRP3 are associated with recurrent fever/autoinflammatory syndromes. We show that the KD-associated genetic polymorphism in inositol-triphosphate 3-kinase C (ITPKC) (rs28493229) has important functional consequences, governing ITPKC protein levels and thereby intracellular calcium, which in turn regulates NLRP3 expression and production of IL-1β and IL-18...
September 30, 2016: Journal of Immunology: Official Journal of the American Association of Immunologists
Mette Christiansen, Sandra Ammann, Carsten Speckmann, Trine Hyrup Mogensen
A 16-year-old boy of Caucasian ethnicity was evaluated for recurrent febrile episodes occurring during most of his life without establishment of any microbial aetiology. During febrile episodes he developed extensive splenomegaly, lymphadenopathy, anaemia, severe abdominal pain and general malaise. Lymph node biopsies demonstrated inflammation and sinus histiocytosis but no malignancy or granuloma. The patient underwent seroconversion for Epstein-Barr virus (EBV) infection during the hospitalisation. Genetic testing identified a hemizygous frameshift mutation in the X linked inhibitor of apoptosis (XIAP)-gene as well as variants in the MEFV gene indicating Familial Mediterranean Fever (FMF)...
2016: BMJ Case Reports
Hanna Kim, Gina A Montealegre Sanchez, Raphaela Goldbach-Mansky
Autoinflammatory disorders are sterile inflammatory conditions characterized by episodes of early-onset fever and disease-specific patterns of organ inflammation. Recently, the discoveries of monogenic disorders with strong type I interferon (IFN) signatures caused by mutations in proteasome degradation and cytoplasmic RNA and DNA sensing pathways suggest a pathogenic role of IFNs in causing autoinflammatory phenotypes. The IFN response gene signature (IGS) has been associated with systemic lupus erythematosus (SLE) and other autoimmune diseases...
October 2016: Journal of Molecular Medicine: Official Organ of the "Gesellschaft Deutscher Naturforscher und Ärzte"
Karoline Krause, Athanasios Tsianakas, Nicola Wagner, Jörg Fischer, Karsten Weller, Martin Metz, Martin K Church, Marcus Maurer
BACKGROUND: Schnitzler's syndrome is an adult-onset autoinflammatory disease characterized by urticarial exanthema and monoclonal gammopathy accompanied by systemic symptoms such as fever, bone and muscle pain. Up to now, approved treatment options are not available. OBJECTIVE: We here assessed the effects of the anti-IL-1ß monoclonal antibody canakinumab on the clinical signs and symptoms of Schnitzler's syndrome. METHODS: In this phase II, randomized placebo-controlled multi-center study, 20 patients with active disease enrolled in four German study centers...
September 19, 2016: Journal of Allergy and Clinical Immunology
Genevieve T Ostring, Davinder Singh-Grewal
Recurrent fever is a common presentation in paediatric practice and can be caused by a wide variety of diseases including autoinflammatory conditions. The innate immune system plays an essential role in the 'first line' response to infection through mediation of inflammatory responses. Inflammasomes are part of the regulatory process for this system and result in the production of the powerful pro-inflammatory cytokine interleukin-1B. Dysregulation of inflammasomes, and Interleukin 1 production, contributes to the pathogenesis of autoinflammatory diseases...
September 2016: Journal of Paediatrics and Child Health
Min Shen, Lin Tang, Xiaochun Shi, Xiaofeng Zeng, Qingping Yao
As one of the systemic autoinflammatory diseases (SAIDs), the nucleotide-binding oligomerization domain-like receptor protein (NLRP)12 autoinflammatory disease (NLRP12-AD) is an autosomal dominant disorder associated with NLRP12 mutation. SAIDs have been hardly reported in the Chinese population, and NLRP12-AD has been reported only in Caucasians. We report the first case series of NLRP12-AD in the Chinese population coupled with literature review. Three Han Chinese adult patients with clinical phenotype suggestive of NLRP12-AD carrying NLRP12 variants were treated by the authors in 2015...
September 16, 2016: Clinical Rheumatology
Roberta Caorsi, Federica Penco, Francesca Schena, Marco Gattorno
The deficiency of Adenosine Deaminase 2 (DADA2) is a new autoinflammatory disease characterised by an early onset vasculopathy with livedoid skin rash associated with systemic manifestations, CNS involvement and mild immunodeficiency.This condition is secondary to autosomal recessive mutations of CECR1 (Cat Eye Syndrome Chromosome Region 1) gene, mapped to chromosome 22q11.1, that encodes for the enzymatic protein adenosine deaminase 2 (ADA2). By now 19 different mutations in CECR1 gene have been detected...
2016: Pediatric Rheumatology Online Journal
Ruby Haviv, Philip J Hashkes
INTRODUCTION: Familial Mediterranean fever (FMF) is the most common hereditary autoinflammatory syndrome. The treatment of choice is colchicine. However, ~40% of patients are only partial responders and 5-10% are non-responders. Advances in the understanding of the role of pyrin in the regulation of interleukin (IL)-1β activation has led to use of anti-IL-1 agents for colchicine-resistant FMF. AREAS COVERED: The authors performed a literature search of anti-IL-1 treatment for FMF, particularly canakinumab, a humanized IL-1β antibody, by searching PubMed/Medline/Scopus since 2001 and proceedings of major rheumatologic conferences since 2011 for unpublished studies...
November 2016: Expert Opinion on Biological Therapy
Yvonne Zeissig, Britt-Sabina Petersen, Andre Franke, Richard S Blumberg, Sebastian Zeissig
The study of rare phenotypes has a long history in the description of autoimmune disorders. First Mendelian syndromes of idiopathic tissue destruction were defined more than 100 years ago and were later revealed to result from immune-mediated reactivity against self. In the past two decades, continuous advances in sequencing technology and particularly the advent of next-generation sequencing have allowed to define the genetic basis of an ever-growing number of Mendelian forms of autoimmunity. This has provided unique insight into the molecular pathways that govern immunological homeostasis and that are indispensable for the prevention of self-reactive immune-mediated tissue damage and 'horror autotoxicus'...
October 11, 2016: Immunology and Cell Biology
Tanya I Coulter, Anita Chandra, Chris M Bacon, Judith Babar, James Curtis, Nick Screaton, John R Goodlad, George Farmer, Cathal Laurence Steele, Timothy Ronan Leahy, Rainer Doffinger, Helen Baxendale, Jolanta Bernatoniene, J David M Edgar, Hilary J Longhurst, Stephan Ehl, Carsten Speckmann, Bodo Grimbacher, Anna Sediva, Tomas Milota, Saul N Faust, Anthony P Williams, Grant Hayman, Zeynep Yesim Kucuk, Rosie Hague, Paul French, Richard Brooker, Peter Forsyth, Richard Herriot, Caterina Cancrini, Paolo Palma, Paola Ariganello, Niall Conlon, Conleth Feighery, Patrick J Gavin, Alison Jones, Kohsuke Imai, Mohammad A A Ibrahim, Gašper Markelj, Mario Abinun, Frédéric Rieux-Laucat, Sylvain Latour, Isabelle Pellier, Alain Fischer, Fabien Touzot, Jean-Laurent Casanova, Anne Durandy, Siobhan O Burns, Sinisa Savic, D S Kumararatne, Despina Moshous, Sven Kracker, Bart Vanhaesebroeck, Klaus Okkenhaug, Capucine Picard, Sergey Nejentsev, Alison M Condliffe, Andrew James Cant
BACKGROUND: Activated phosphoinositide 3-kinase δ syndrome (APDS) is a recently described combined immunodeficiency resulting from gain-of-function mutations in PIK3CD, the gene encoding the catalytic subunit of phosphoinositide 3-kinase δ (PI3Kδ). OBJECTIVE: We sought to review the clinical, immunologic, histopathologic, and radiologic features of APDS in a large genetically defined international cohort. METHODS: We applied a clinical questionnaire and performed review of medical notes, radiology, histopathology, and laboratory investigations of 53 patients with APDS...
July 16, 2016: Journal of Allergy and Clinical Immunology
Rune Busk Damgaard, Jennifer A Walker, Paola Marco-Casanova, Neil V Morgan, Hannah L Titheradge, Paul R Elliott, Duncan McHale, Eamonn R Maher, Andrew N J McKenzie, David Komander
Methionine-1 (M1)-linked ubiquitin chains regulate the activity of NF-κB, immune homeostasis, and responses to infection. The importance of negative regulators of M1-linked chains in vivo remains poorly understood. Here, we show that the M1-specific deubiquitinase OTULIN is essential for preventing TNF-associated systemic inflammation in humans and mice. A homozygous hypomorphic mutation in human OTULIN causes a potentially fatal autoinflammatory condition termed OTULIN-related autoinflammatory syndrome (ORAS)...
August 25, 2016: Cell
Gustavo Guimarães Moreira Balbi, Ricardo Azêdo Montes, Verônica Silva Vilela, Marcella Azevedo Borges Andrade, Monisa Martins Nóbrega, Luna Azulay-Abulafia, Roberto Souto da Silva, Evandro Mendes Klumb, Roger Abramino Levy
The term autoimmune/autoinflammatory syndrome induced by adjuvants (ASIA) or Shoenfeld's syndrome refers to a wide group of immune-mediated diseases triggered by external agents. Several substances, such as vaccine adjuvants, squalene and silicone implants, are implied in the pathogenesis of ASIA syndrome. Treatment and prognosis of this complex condition are not completely known due to lack of good quality evidence. After a brief introductory literature review on ASIA, we report here two cases of patients that developed rapidly progressive systemic sclerosis clinical features after multiple intramuscular local injections of a substance recommended by a non-medical professional called ADE...
August 11, 2016: Immunologic Research
Leslie A Favier, Grant S Schulert
Mevalonate kinase deficiency (MKD) is a recessively inherited autoinflammatory disorder with a spectrum of manifestations, including the well-defined clinical phenotypes of hyperimmunoglobulinemia D and periodic fever syndrome and mevalonic aciduria. Patients with MKD have recurrent attacks of hyperinflammation associated with fever, abdominal pain, arthralgias, and mucocutaneous lesions, and more severely affected patients also have dysmorphisms and central nervous system anomalies. MKD is caused by mutations in the gene encoding mevalonate kinase, with the degree of residual enzyme activity largely determining disease severity...
2016: Application of Clinical Genetics
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