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Autoinflammatory disease

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https://www.readbyqxmd.com/read/29214791/a-case-of-schnitzler-s-syndrome-without-monoclonal-gammopathy-associated-chronic-urticaria-treated-with-anakinra
#1
Min Joo Ahn, Ji Eun Yu, Jiung Jeong, Da Woon Sim, Young Il Koh
Chronic urticaria may often be associated with interleukin (IL)-1-mediated autoinflammatory disease, which should be suspected if systemic inflammation signs are present. Here, we report a case of Schnitzler's syndrome without monoclonal gammopathy treated successfully with the IL-1 receptor antagonist anakinra. A 69-year-old man suffered from a pruritic urticarial rash for 12 years. It became aggravated episodically and was accompanied by high fever, arthralgia, leukocytosis, and an elevated C-reactive protein and erythrocyte sedimentation rate...
January 2018: Yonsei Medical Journal
https://www.readbyqxmd.com/read/29203393/pyrin-inflammasome-regulates-tight-junction-integrity-to-restrict-colitis-and-tumorigenesis
#2
Deepika Sharma, Ankit Malik, Clifford S Guy, Rajendra Karki, Peter Vogel, Thirumala-Devi Kanneganti
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...
December 1, 2017: Gastroenterology
https://www.readbyqxmd.com/read/29203226/innately-versatile-%C3%AE-%C3%AE-17%C3%A2-t-cells-in-inflammatory-and-autoimmune-diseases
#3
REVIEW
Pedro H Papotto, Annika Reinhardt, Immo Prinz, Bruno Silva-Santos
IL-17-producing γδ (γδ17) T cells form a versatile subset of cells that respond rapidly to innate stimuli and support the pro-inflammatory functions of different myeloid and lymphoid lineages, being particularly critical in the early stages of inflammatory and autoimmune responses. In mice, under homeostatic conditions, these innate-like lymphocytes are pre-programmed in the fetal thymus, through an intricate process involving both T cell receptor-dependent and -independent signals, which allows them to readily produce IL-17 upon stimulation...
December 1, 2017: Journal of Autoimmunity
https://www.readbyqxmd.com/read/29200027/familial-mediterranean-fever-imitating-lupus-flare-a-rare-coexistence-of-an-autoimmune-with-an-autoinflammatory-disease
#4
Amirali Kiyani, Konstantinos Parperis, Konstantinos Parperis
No abstract text is available yet for this article.
December 1, 2017: Journal of Clinical Rheumatology: Practical Reports on Rheumatic & Musculoskeletal Diseases
https://www.readbyqxmd.com/read/29198619/new-mosaic-tiles-in-childhood-hereditary-autoinflammatory-disorders
#5
REVIEW
Donato Rigante
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...
December 1, 2017: Immunology Letters
https://www.readbyqxmd.com/read/29191346/neutrophilic-dermatoses-kids-are-not-just-little-people
#6
Grace L Lee, Amy Y-Y Chen
Neutrophilic dermatoses are a group of inflammatory skin disorders characterized by an overactive innate immune system with dysregulation of neutrophils without underlying infectious etiology. The major representative conditions discussed are Sweet syndrome; pyoderma gangrenosum; neutrophilic eccrine hidradenitis; palmoplantar eccrine hidradenitis; subcorneal pustular dermatoses; bowel-associated dermatosis arthritis syndrome; and synovitis, acne, pustulosis, hyperostosis, and osteitis. We will also discuss other neutrophilic conditions present almost exclusively in the pediatric population, including congenital erosive and vesicular dermatosis with reticulated supple scarring and the recently described group of autoinflammatory diseases...
November 2017: Clinics in Dermatology
https://www.readbyqxmd.com/read/29178647/comprehensive-analysis-of-mutations-in-the-mefv-gene-reveal-that-the-location-and-not-the-substitution-type-determines-symptom-severity-in-fmf
#7
Mike M Moradian, Davit Babikyan, Dion Banoian, Hasmik Hayrapetyan, Hakob Manvelyan, Nareh Avanesian, Tamara Sarkisian
BACKGROUND: Familial Mediterranean Fever (FMF) is an autoinflammatory disorder caused by mutations in the MEFV gene. These mutations appear in different populations with different frequencies and their caused symptom severities vary from mild to moderate to severe depending on the mutation type. METHODS: In this study, we analyzed the mutations that have been reported in the MEFV gene from symptomatic FMF patients and compared their frequencies in different populations from the 1000 Genome and the Exome databases, using statistical clustering...
November 2017: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/29177082/autoimmune-autoinflammatory-rheumatoid-arthritis-overlaps-a-rare-but-potentially-important-subgroup-of-diseases
#8
Sinisa Savic, Anoop Mistry, Anthony G Wilson, Gabriela Barcenas-Morales, Rainer Doffinger, Paul Emery, Dennis McGonagle
At the population level, rheumatoid arthritis (RA) is generally viewed as autoimmune in nature with a small subgroup of cases having a palindromic form or systemic autoinflammatory disorder (SAID) phenotype. Herein, we describe resistant cases of classical autoantibody associated RA that had clinical, genetic and therapeutic responses indicative of coexistent autoinflammatory disease. Five patients with clinically overlapping features between RA and SAID including polysynovitis and autoantibody/shared epitope positivity, and who had abrupt severe self-limiting attacks including fevers and serositis, are described...
2017: RMD Open
https://www.readbyqxmd.com/read/29173974/-indications-and-follow-up-for-autologous-hematopoietic-stem-cell-transplantation-in-autoimmune-and-autoinflammatory-diseases-guidelines-from-the-francophone-society-of-bone-marrow-transplantation-and-cellular-therapy-sfgm-tc
#9
Grégory Pugnet, Christina Castilla-Llorente, Mathieu Puyade, Louis Terriou, Manuela Badoglio, Christophe Deligny, Perrine Guillaume-Jugnot, Céline Labeyrie, Ilham Benzidia, Hélène Faivre, Pauline Lansiaux, Zora Marjanovic, Jean-Henri Bourhis, Catherine Faucher, Sabine Furst, Anne Huynh, Thierry Martin, Patrick Vermersch, Ibrahim Yakoub-Agha, Dominique Farge
The Francophone Society of Bone Marrow Transplantation and Cellular Therapy (SFGM-TC) organized the 7th allogeneic hematopoietic stem cell transplantation clinical practices harmonization workshop series in September 2017 in Lille, France and updated recommendations for indications and follow-up in autologous hematopoietic stem cell transplantation in autoimmune and autoinflammatory diseases, previously published under the auspices of SFGM-TC.
November 21, 2017: Bulletin du Cancer
https://www.readbyqxmd.com/read/29151129/one-novel-and-two-uncommon-mefv-mutations-in-japanese-patients-with-familial-mediterranean-fever-a-clinicogenetic-study
#10
Dai Kishida, Masahide Yazaki, Akinori Nakamura, Fumio Nomura, Takeshi Kondo, Takanori Uehara, Masatomi Ikusaka, Akira Ohya, Norihiko Watanabe, Ryuta Endo, Satoshi Kawaai, Yasuhiro Shimojima, Yoshiki Sekijima
Familial Mediterranean fever (FMF) is an autoinflammatory disease caused by mutations in the MEFV gene and characterized by recurrent episodes of fever and polyserositis. To date, over 317 MEFV mutations have been reported, only nine of which account for almost all Japanese patients with FMF. Therefore, the prevalence of rare MEFV variants and their clinical characteristics remains unclear. This study identified MEFV mutations previously unreported in the Japanese population and described their clinical features...
November 18, 2017: Rheumatology International
https://www.readbyqxmd.com/read/29148409/a-high-and-equal-prevalence-of-the-q703k-variant-in-nlrp3-patients-with-autoinflammatory-symptoms-and-ethnically-matched-controls
#11
Merav Lidar, Yael Brantz, Yael Shinar, Haike Reznik-Wolf, Avi Livneh, Ilan Ben Zvi, Rinat Cohen, Yaakov Berkun, Philip J Hashkes, Hagit Peleg, Aharon Kessel, Gleb Slobodin, Michael Rozenbaum, Ofra Goldzweig, Elon Pras
OBJECTIVES: Cryopyrin associated periodic syndromes (CAPS) comprise a spectrum of autoinflammatory disorders of varying severity caused by mutations in the NLRP3 gene. The NLRP3-Q703K allele has been reported both as a functional polymorphism and as a low penetrance mutation. METHODS: To describe the clinical phenotype of subjects with the Q703K allele and to report the frequency of this allele among patients with autoinflammatory symptoms and healthy controls. To this end, a cohort of 10 ethnically-matched controls per each Q703K-carrying patient, was composed...
October 6, 2017: Clinical and Experimental Rheumatology
https://www.readbyqxmd.com/read/29148404/other-autoinflammatory-disease-genes-in-an-fmf-prevalent-population-a-homozygous-mvk-mutation-and-a-novel-heterozygous-tnfrsf1a-mutation-in-two-different-turkish-families-with-clinical-fmf
#12
İlker Karacan, Serdal Uğurlu, Aslıhan Tolun, Eda Tahir Turanlı, Huri Özdoğan
OBJECTIVES: No MEFV mutations are detected in approximately 10% of the patients with clinical FMF in populations where the disease is highly prevalent. Causative mutations were searched in other genes in two such families with "MEFV negative clinical FMF". METHODS: Father and daughter of family A had attacks of fever, abdominal pain and AA amyloidosis. The two sibs of family B complained of febrile episodes with abdominal pain and arthritis. The patients were clinically investigated...
October 27, 2017: Clinical and Experimental Rheumatology
https://www.readbyqxmd.com/read/29148036/function-and-mechanism-of-the-pyrin-inflammasome
#13
REVIEW
Rosalie Heilig, Petr Broz
Pyrin, encoded by the MEFV gene, is an intracellular pattern recognition receptor that assembles inflammasome complexes in response to pathogen infections. Mutations in the MEFV gene have been linked to autoinflammatory diseases such as Familial Mediterranean Fever (FMF) or pyrin-associated autoinflammation with neutrophilic dermatosis (PAAND). Recent insights have now revealed how pyrin is activated during infection, providing a molecular basis for the understanding of such disease-causing mutations in pyrin...
November 16, 2017: European Journal of Immunology
https://www.readbyqxmd.com/read/29146903/wiskott-aldrich-syndrome-protein-regulates-autophagy-and-inflammasome-activity-in-innate-immune-cells
#14
Pamela P Lee, Damián Lobato-Márquez, Nayani Pramanik, Andrea Sirianni, Vanessa Daza-Cajigal, Elizabeth Rivers, Alessia Cavazza, Gerben Bouma, Dale Moulding, Kjell Hultenby, Lisa S Westerberg, Michael Hollinshead, Yu-Lung Lau, Siobhan O Burns, Serge Mostowy, Mona Bajaj-Elliott, Adrian J Thrasher
Dysregulation of autophagy and inflammasome activity contributes to the development of auto-inflammatory diseases. Emerging evidence highlights the importance of the actin cytoskeleton in modulating inflammatory responses. Here we show that deficiency of Wiskott-Aldrich syndrome protein (WASp), which signals to the actin cytoskeleton, modulates autophagy and inflammasome function. In a model of sterile inflammation utilizing TLR4 ligation followed by ATP or nigericin treatment, inflammasome activation is enhanced in monocytes from WAS patients and in WAS-knockout mouse dendritic cells...
November 17, 2017: Nature Communications
https://www.readbyqxmd.com/read/29140564/%C3%AE-catenin-and-il-1%C3%AE-dependent-cxcl10-production-drives-progression-of-disease-in-a-mouse-model-of-congenital-hepatic-fibrosis
#15
Eleanna Kaffe, Romina Fiorotto, Francesca Pellegrino, Valeria Mariotti, Mariangela Amenduni, Massimiliano Cadamuro, Luca Fabris, Mario Strazzabosco, Carlo Spirli
Congenital Hepatic Fibrosis (CHF), a genetic disease caused by mutations in the PKHD1 gene, encoding for the protein fibrocystin (FPC), is characterized by biliary dysgenesis, progressive portal fibrosis, and by a PKA-mediated activating phosphorylation of β-Catenin at Ser675. Biliary structures of Pkhd1(del4/del4) mice, a mouse model of CHF, secrete CXCL10 a chemokine able to recruit macrophages. The aim of this study is to clarify whether CXCL10 plays a pathogenetic role in disease progression in CHF/CD and to understand the mechanisms leading to increased CXCL10 secretion...
November 15, 2017: Hepatology: Official Journal of the American Association for the Study of Liver Diseases
https://www.readbyqxmd.com/read/29130931/confounding-role-of-tumor-necrosis-factor-in-cryopyrin-associated-periodic-syndromes
#16
Balaji Banoth, Fayyaz S Sutterwala
The NLRP3 inflammasome is a critical component of the innate immune system and can be activated in response to microbial and endogenous danger signals. Activation of the NLRP3 inflammasome results in caspase-1-dependent secretion of the proinflammatory cytokines IL-1β and IL-18. Gain-of-function missense mutations in NLRP3 result in a group of autoinflammatory diseases collectively known as the cryopyrin-associated periodic syndromes (CAPS). CAPS patients have traditionally been successfully treated with therapeutics targeting the IL-1 pathway; however, there are a number of identified CAPS patients who show only a partial response to IL-1 blockade...
December 1, 2017: Journal of Clinical Investigation
https://www.readbyqxmd.com/read/29122972/eating-disorders-autoimmune-and-autoinflammatory-disease
#17
Stephanie Zerwas, Janne Tidselbak Larsen, Liselotte Petersen, Laura M Thornton, Michela Quaranta, Susanne Vinkel Koch, David Pisetsky, Preben Bo Mortensen, Cynthia M Bulik
OBJECTIVES: Identifying factors associated with risk for eating disorders is important for clarifying etiology and for enhancing early detection of eating disorders in primary care. We hypothesized that autoimmune and autoinflammatory diseases would be associated with eating disorders in children and adolescents and that family history of these illnesses would be associated with eating disorders in probands. METHODS: In this large, nationwide, population-based cohort study of all children and adolescents born in Denmark between 1989 and 2006 and managed until 2012, Danish medical registers captured all inpatient and outpatient diagnoses of eating disorders and autoimmune and autoinflammatory diseases...
November 9, 2017: Pediatrics
https://www.readbyqxmd.com/read/29119082/cardiac-manifestations-of-familial-mediterranean-fever
#18
REVIEW
Ahmad Alsarah, Osama Alsara, Heather S Laird-Fick
Familial Mediterranean fever (FMF) is autoinflammatory disorder characterized by sporadic attacks of fever, peritonitis, pleuritis, and arthritis. It is mainly seen in patients from Mediterranean origins, but it is now reported more frequently in Europe and North America due to immigration. To analyze the data on the cardiovascular manifestations in FMF patients, we searched PubMed using the terms "Familial Mediterranean Fever" or "FMF" in combination with other key words including "cardiovascular diseases" "pericardial diseases" "atherosclerosis" "coronary artery diseases" "cardiomyopathy" "pulmonary hypertension" or "valvular diseases...
October 2017: Avicenna Journal of Medicine
https://www.readbyqxmd.com/read/29111302/-cryopyrin-associated-periodic-syndromes
#19
P Quartier, F Rodrigues, S Georgin-Lavialle
Cryopyrin-associated periodic syndromes (CAPS) are linked to one single gene mutations, however they are associated with 3 syndromes, which are, from the mildest to the most severe phenotype familial cold urticaria, Muckle-Wells syndrome and chronic, infantile, neurologic, cutaneous, articular (CINCA) syndrome also called neonatal-onset multisystem inflammatory disease (NOMID). Autosomic dominant inheritance is present in most cases but in CINCA/NOMID syndrome where neomutations are more common. Mutations in the gene encoding cryopyrin, NLRP3, are associated with deregulation of caspase-1 activity, excessive interleukin-1 production and an autoinflammatory syndrome, which in familial cold urticaria and Muckle-Wells syndrome may be triggered or worsened by exposure to coldness...
October 27, 2017: La Revue de Médecine Interne
https://www.readbyqxmd.com/read/29108670/autophagy-dysfunction-in-autoinflammatory-diseases
#20
REVIEW
Yichao Hua, Min Shen, Christine McDonald, Qingping Yao
Autoinflammatory diseases (AUIDs) are a genetically heterogeneous group of rheumatic diseases characterized by episodic inflammation linked with dysregulated innate immune responses. In this review, we summarize the molecular mechanisms altered by disease-associated variants in several AUIDs, including NOD2-associated diseases, TNF receptor-associated periodic syndrome (TRAPS), familial Mediterranean fever (FMF) and hyperimmunoglobulinemia D and periodic fever syndrome (HIDS), and highlight the roles dysregulated autophagy plays in disease pathogenesis...
November 3, 2017: Journal of Autoimmunity
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