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https://www.readbyqxmd.com/read/29333670/pustular-psoriasis-and-related-pustular-skin-diseases
#1
REVIEW
H Bachelez
Patients with pustular psoriasis or related pustular diseases may have genetic abnormalities impairing the function of key players of the innate skin immune system. Recently, identification of these abnormalities has changed the paradigm of several of these diseases. These include generalized pustular psoriasis, palmoplantar pustular psoriasis and acrodermatitis continua of Hallopeau, and also drug-induced acute exanthematous generalized pustular eruption. Identified mutations in IL36RN, CARD14 and AP1S3 in different groups of patients lead to enhanced inflammatory cascade in several cellular subtypes including keratinocytes, and to the recruitment and activation of neutrophils and macrophages...
January 15, 2018: British Journal of Dermatology
https://www.readbyqxmd.com/read/29330757/-myelodysplastic-syndrome-acute-leukemia-and-stem-cell-transplantation
#2
REVIEW
M Schmalzing, M Aringer, M Bornhäuser, J Atta
Myelodysplastic syndromes (MDS) represent a heterogeneous group of clonal hematopoietic stem cell disorders. They are characterized by inefficient hematopoiesis leading to peripheral cytopenia of one or more lineages and a variable risk of transformation into acute myeloid leukemia. They may either arise de novo as well as following exposition to environmental toxins, previous radiotherapy or chemotherapy or in the context of autoinflammatory diseases and related therapy. Characteristic cytogenetic abnormalities, along with the numbers of hematopoietic lineages affected and bone marrow blasts, enable an assessment of the risk of leukemic transformation...
October 2017: Zeitschrift Für Rheumatologie
https://www.readbyqxmd.com/read/29326099/interleukin-18-diagnostically-distinguishes-and-pathogenically-promotes-human-and-murine-macrophage-activation-syndrome
#3
Eric S Weiss, Charlotte Girard-Guyonvarc'h, Dirk Holzinger, Adriana A de Jesus, Zeshan Tariq, Jennifer Picarsic, Eduardo J Schiffrin, Dirk Foell, Alexei A Grom, Sandra Ammann, Stephan Ehl, Tomoaki Hoshino, Raphaela Goldbach-Mansky, Cem Gabay, Scott W Canna
Hemophagocytic Lymphohistiocytosis (HLH) and Macrophage Activation Syndrome (MAS) are life-threatening hyperferritinemic systemic inflammatory disorders. Though profound cytotoxic impairment causes familial HLH (fHLH), the mechanisms driving non-fHLH and MAS are largely unknown. MAS occurs in patients with suspected rheumatic disease, but the mechanistic basis for its distinction is unclear. Recently, a syndrome of recurrent MAS with infantile enterocolitis caused by NLRC4 inflammasome hyperactivity highlighted the potential importance of Interleukin (IL)-18...
January 11, 2018: Blood
https://www.readbyqxmd.com/read/29287595/dealing-with-chronic-non-bacterial-osteomyelitis-a-practical-approach
#4
REVIEW
Andrea Taddio, Giovanna Ferrara, Antonella Insalaco, Manuela Pardeo, Massimo Gregori, Martina Finetti, Serena Pastore, Alberto Tommasini, Alessandro Ventura, Marco Gattorno
BACKGROUND: Chronic Non-Bacterial Osteomyelitis (CNO) is an inflammatory disorder that primarily affects children. Although underestimated, its incidence is rare. For these reasons, no diagnostic and no therapeutic guidelines exist. The manuscript wants to give some suggestions on how to deal with these patients in the every-day clinical practice. MAIN BODY: CNO is characterized by insidious onset of bone pain with local swelling. Systemic symptoms such as fever, skin involvement and arthritis may be sometimes present...
December 29, 2017: Pediatric Rheumatology Online Journal
https://www.readbyqxmd.com/read/29250517/serum-interleukin-6-and-ccl11-eotaxin-may-be-suitable-biomarkers-for-the-diagnosis-of-chronic-nonbacterial-osteomyelitis
#5
Sigrun Ruth Hofmann, Fanny Böttger, Ursula Range, Christian Lück, Henner Morbach, Hermann Joseph Girschick, Meinolf Suttorp, Christian Michael Hedrich
Objectives: Chronic recurrent multifocal osteomyelitis (CRMO), the most severe form of chronic nonbacterial osteomyelitis (CNO), is an autoinflammatory bone disorder. In the absence of diagnostic criteria or biomarkers, CNO/CRMO remains a diagnosis of exclusion. The aim of this study was to identify biomarkers for diagnosing multifocal disease (CRMO). Study design: Sera from 71 pediatric CRMO patients, 11 patients with osteoarticular infections, 62 patients with juvenile idiopathic arthritis (JIA), 7 patients with para-infectious or reactive arthritis, and 43 patients with acute leukemia or lymphoma, as well as 59 healthy individuals were collected...
2017: Frontiers in Pediatrics
https://www.readbyqxmd.com/read/29249125/panniculitis-in-the-setting-of-dermato-rheumatologic-diseases
#6
Valentina Caputo, Franco Rongioletti
Panniculitides represent a heterogeneous group of inflammatory diseases that are traditionally considered one of the most difficult challenge for clinicians and pathologists. They may occur in a variety of dermato/rheumatologic diseases and are of particular relevance for clinicians dealing with such pathologies, including immune-mediated/autoimmune and autoinflammatory disorders. In fact, panniculitides can be the initial sign of presentation of a dermato/rheumatologic disease, thereby providing the physician with important clues to the correct diagnosis...
December 15, 2017: Giornale Italiano di Dermatologia e Venereologia: Organo Ufficiale, Società Italiana di Dermatologia e Sifilografia
https://www.readbyqxmd.com/read/29249124/histopathological-aspects-of-psoriasis-and-its-uncommon-variants
#7
Caterina Ferreli, Anna L Pinna, Luca Pilloni, Carlo F Tomasini, Franco Rongioletti
Psoriasis is a chronic complex multisystem, inflammatory, skin disorder that causes vasodilatation and hyperproliferation of keratinocytes, whose clinical expression includes a thickened, erythematous skin, often covered with silver grey scales. Psoriasis is a unique disease where both autoimmune and autoinflammatory responses coexist and the balance between the two components is essential in determining its clinical and histopathological presentation. Adaptive immune responses prevail in chronic plaque psoriasis while innate and autoinflammatory responses predominate in pustular psoriasis...
December 15, 2017: Giornale Italiano di Dermatologia e Venereologia: Organo Ufficiale, Società Italiana di Dermatologia e Sifilografia
https://www.readbyqxmd.com/read/29241730/haploinsufficiency-of-a20-causes-autoinflammatory-and-autoimmune-disorders
#8
Tomonori Kadowaki, Hidenori Ohnishi, Norio Kawamoto, Tomohiro Hori, Kenichi Nishimura, Chie Kobayashi, Tomonari Shigemura, Shohei Ogata, Yuzaburo Inoue, Tomoki Kawai, Eitaro Hiejima, Masatoshi Takagi, Kohsuke Imai, Ryuta Nishikomori, Shuichi Ito, Toshio Heike, Osamu Ohara, Tomohiro Morio, Toshiyuki Fukao, Hirokazu Kanegane
No abstract text is available yet for this article.
December 11, 2017: Journal of Allergy and Clinical Immunology
https://www.readbyqxmd.com/read/29240030/a-case-of-familial-mediterranean-fever-having-intermittent-leukopenia
#9
Ilke Beyitler, Salih Kavukcu
Familial Mediterranean fever (FMF) is a genetically inherited autoinflammatory disorder characterized by inflammatory attacks and may result in amyloidosis as a severe complication. Elevation of acute phase reactants, including leukocytosis, is seen during attack periods. Here we describe a 13-year-old female patient with a very rare clinical presentation of FMF, who would experience FMF attacks when she did not regularly take her colchicine. During these attacks she had leukopenia and neutropenia instead of leukocytosis...
December 12, 2017: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/29239128/efficacy-of-anakinra-in-a-patient-with-systemic-amyloidosis-presented-with-amyloidoma
#10
Hulya Nalcacioglu, Ozan Ozkaya, Gurkan Genc, Suat Ayyildiz, Mehmet Kefeli, Murat Elli, Oguz Aydin, Meltem Ceyhan Bilgici
Amyloidosis is a heterogeneous group of disorders characterized by extracellular deposition of unique protein fibrils. The least common presentation of an amyloid deposition is as a discrete mass called amyloidoma or amyloid tumor. We report a case of a soft tissue amyloidoma in the abdomen of a 16-year-old girl who was diagnosed as having systemic amyloidosis. A girl aged 16 years was referred to our hospital with a pre-diagnosis of a retroperitoneal mass documented with abdominal ultrasonography and tomography...
December 13, 2017: International Journal of Rheumatic Diseases
https://www.readbyqxmd.com/read/29198619/new-mosaic-tiles-in-childhood-hereditary-autoinflammatory-disorders
#11
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
#12
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
#13
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
#14
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/29151129/one-novel-and-two-uncommon-mefv-mutations-in-japanese-patients-with-familial-mediterranean-fever-a-clinicogenetic-study
#15
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
#16
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...
November 2017: Clinical and Experimental Rheumatology
https://www.readbyqxmd.com/read/29143127/decreased-serum-vitamin-b12-and-vitamin-d-levels-affect-sleep-quality-in-children-with-familial-mediterranean-fever
#17
Rabia Miray Kisla Ekinci, Sibel Balci, Mahir Serbes, Dilek Dogruel, Derya Ufuk Altintas, Mustafa Yilmaz
Familial Mediterranean fever is an autoinflammatory disorder characterized by recurrent fever and serositis. We aimed to describe serum vitamin B12 and vitamin D levels and their correlation with self-reported sleep quality of pediatric FMF patients. Sixty-three children with FMF were enrolled to the study. Information on sleep quality was obtained using self-administration of Pittsburg Sleep Quality Index (PSQI). The patients were divided into subgroups depending on vitamin D serum concentrations: ≥ 20 and < 20 ng/ml...
November 15, 2017: Rheumatology International
https://www.readbyqxmd.com/read/29122972/eating-disorders-autoimmune-and-autoinflammatory-disease
#18
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
#19
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/29099860/autoimmunity-and-autoinflammation-a-systems-view-on-signaling-pathway-dysregulation-profiles
#20
Arsen Arakelyan, Lilit Nersisyan, David Poghosyan, Lusine Khondkaryan, Anna Hakobyan, Henry Löffler-Wirth, Evie Melanitou, Hans Binder
INTRODUCTION: Autoinflammatory and autoimmune disorders are characterized by aberrant changes in innate and adaptive immunity that may lead from an initial inflammatory state to an organ specific damage. These disorders possess heterogeneity in terms of affected organs and clinical phenotypes. However, despite the differences in etiology and phenotypic variations, they share genetic associations, treatment responses and clinical manifestations. The mechanisms involved in their initiation and development remain poorly understood, however the existence of some clear similarities between autoimmune and autoinflammatory disorders indicates variable degrees of interaction between immune-related mechanisms...
2017: PloS One
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