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Autoinflammatory disease in children

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
Cécile Picard, Guillaume Thouvenin, Caroline Kannengiesser, Jean-Christophe Dubus, Nadia Jeremiah, Frédéric Rieux-Laucat, Bruno Crestani, Alexandre Belot, Françoise Thivolet-Béjui, Véronique Secq, Christelle Ménard, Martine Reynaud-Gaubert, Philippe Reix
We report three cases of pulmonary disease suggesting fibrosis in two familial and one sporadic case. Pulmonary symptoms were associated with various clinical features of systemic inflammation and vasculitis involving the skin, and appeared at different ages. A strong interferon signature was found in all three cases. Disease was not responsive to corticosteroids, and lung transplantation was considered for all three subjects at an early age. One of them underwent double-lung transplantation, but she immediately experienced a primary graft dysfunction and died soon after...
September 2016: Chest
Noa Safra, Peta L Hitchens, Emanual Maverakis, Anupam Mitra, Courtney Korff, Eric Johnson, Amir Kol, Michael J Bannasch, Niels C Pedersen, Danika L Bannasch
Metaphyseal osteopathy (MO) (hypertrophic osteodystrophy) is a developmental disorder of unexplained etiology affecting dogs during rapid growth. Affected dogs experience relapsing episodes of lytic/sclerotic metaphyseal lesions and systemic inflammation. MO is rare in the general dog population; however, some breeds (Weimaraner, Great Dane and Irish Setter) have a much higher incidence, supporting a hereditary etiology. Autoinflammatory childhood disorders of parallel presentation such as chronic recurrent multifocal osteomyelitis (CRMO), and deficiency of interleukin-1 receptor antagonist (DIRA), involve impaired innate immunity pathways and aberrant cytokine production...
October 15, 2016: Veterinary Immunology and Immunopathology
Per Wekell, Anna Karlsson, Stefan Berg, Anders Fasth
UNLABELLED: There have been remarkable developments in the field of autoinflammatory diseases over the last 20 years. Research has led to definitions of new conditions, increased understanding of disease mechanisms and specific treatment. The polygenic autoinflammatory condition of periodic fever, aphthous stomatitis, pharyngitis and cervical adenitis (PFAPA) is the most common autoinflammatory disorder among children in many parts of the world. The clinical features often include clockwork regularity of episodes, prompt responses to corticosteroids and therapeutic effects of tonsillectomy, but the disease mechanisms are largely unknown...
October 2016: Acta Paediatrica
Yasuyoshi Ueki
Study of rare genetic disorder often provides fundamental insights into the pathology of common diseases. Cherubism is a rare craniofacial disorder in children characterized by the destruction of maxillary and mandibular bones due to expansile fibrous inflammatory lesions. Genetic study of cherubism families discovered that gain-of-function mutations in the signaling adaptor protein SH3BP2 are responsible for cherubism. Analysis of the mouse model revealed that cherubism is an autoinflammatory disorder that is caused by dysregulated signaling pathway mediated by toll-like receptors and spleen tyrosine kinase...
June 2016: Clinical Calcium
N H von der Höh, A Völker, D Jeszenszky, C-E Heyde
Chronic non-bacterial osteomyelitis (CNO) in childhood and adolescence is a non-infectious autoinflammatory disease of the bone with partial involvement of adjacent joints and soft tissue. The etiology is unknown. The disease can occur singular or recurrent. Individual bones can be affected and multiple lesions can occur. Chronic recurrent multifocal osteomyelitis (CRMO) shows the whole picture of CNO. Accompanying but temporally independent of the bouts of osteomyelitis, some patients show manifestations in the skin, eyes, lungs and the gastrointestinal tract...
June 2016: Der Orthopäde
Nienke M Ter Haar, Jerold Jeyaratnam, Helen J Lachmann, Anna Simon, Paul A Brogan, Matteo Doglio, Marco Cattalini, Jordi Anton, Consuelo Modesto, Pierre Quartier, Esther Hoppenreijs, Silvana Martino, Antonella Insalaco, Luca Cantarini, Loredana Lepore, Maria Alessio, Inmaculada Calvo Penades, Christina Boros, Rita Consolini, Donato Rigante, Ricardo Russo, Jana Pachlopnik Schmid, Thirusha Lane, Alberto Martini, Nicolino Ruperto, Joost Frenkel, Marco Gattorno
OBJECTIVES: Mevalonate kinase deficiency (MKD) is a rare metabolic disease characterized by recurrent inflammatory episodes. This study aimed to describe the genotype, phenotype and the response to treatment in an international cohort of MKD patients. METHODS: All MKD cases were extracted from the Eurofever registry (EAHC Project No. 2007332), an international, multicenter registry that retrospectively collects data on children and adults suffering from autoinflammatory diseases...
May 23, 2016: Arthritis & Rheumatology
Ezgi D Batu, Fehime Kara Eroğlu, Paul Tsoukas, Jonathan S Hausmann, Yelda Bilginer, Margaret A Kenna, Greg R Licameli, Robert C Fuhlbrigge, Seza Özen, Fatma Dedeoğlu
OBJECTIVE: Periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) syndrome is a periodic fever syndrome of childhood with an unknown etiology. Our aims were to compare the features between PFAPA patients from Turkey and the USA, and patients with and without MEFV variants, and to test the performance of the Eurofever criteria in excluding other autoinflammatory diseases. METHODS: Seventy-one children with PFAPA followed in Hacettepe University, Ankara, Turkey and 60 patients in Boston Children's Hospital, Boston, USA were enrolled...
April 5, 2016: Arthritis Care & Research
Sofia Torreggiani, Giovanni Filocamo, Susanna Esposito
Children presenting with recurrent fever may represent a diagnostic challenge. After excluding the most common etiologies, which include the consecutive occurrence of independent uncomplicated infections, a wide range of possible causes are considered. This article summarizes infectious and noninfectious causes of recurrent fever in pediatric patients. We highlight that, when investigating recurrent fever, it is important to consider age at onset, family history, duration of febrile episodes, length of interval between episodes, associated symptoms and response to treatment...
2016: International Journal of Molecular Sciences
Katerina Theodoropoulou, Federica Vanoni, Michaël Hofer
PFAPA syndrome represents the most common cause of recurrent fever in children in European populations, and it is characterized by recurrent episodes of high fever, pharyngitis, cervical adenitis, and aphthous stomatitis. Many possible causative factors have been explored so far, including infectious agents, immunologic mechanisms and genetic predisposition, but the exact etiology remains unclear. Recent findings demonstrate a dysregulation of different components of innate immunity during PFAPA flares, such as monocytes, neutrophils, complement, and pro-inflammatory cytokines, especially IL-1β, suggesting an inflammasome-mediated innate immune system activation and supporting the hypothesis of an autoinflammatory disease...
April 2016: Current Rheumatology Reports
Paula Keskitalo, Terhi Remes-Pakarinen, Paula Vähäsalo, Jaakko Niinimäki, Liisa Kröger
Chronic nonbacterial osteomyelitis is an autoinflammatory disease occurring mainly in children and adolescents, typically involving recurrent or persistent osteitic foci. The symptom is bone pain, possibly accompanied by soft tissue tenderness. Some patients exhibit symptoms of systemic inflammation. The. precise etiology of the disease is not known, but an imbalance of inflammatory and anti-inflammatory cytokines is presumed to play a role in the development of the disease. While an anti-inflammatory analgesic is in most cases sufficient to calm down the osteitis, the use of corticosteroids, anti- TNF-a inhibitors or bisphosphonates is required in some cases...
2016: Duodecim; Lääketieteellinen Aikakauskirja
Ruth J Pepper, Helen J Lachmann
Systemic autoinflammatory diseases are rare disorders of innate immunity which usually present in childhood with recurrent or continuous attacks of fever and systemic inflammation. The discovery of the genetic defect underlying Familial Mediterranean fever in 1997 has proved exceptionally informative about the innate immune system and the regulation of pro inflammatory cytokines particularly IL-1. Although extremely rare, systemic autoinflammatory diseases are important to recognise as many can now be completely controlled by long term drug therapies...
March 2016: Indian Journal of Pediatrics
Erkan Demirkaya, Alessandro Consolaro, Hafize Emine Sonmez, Gabriella Giancane, Dogan Simsek, Angelo Ravelli
A rational management of children and adolescents with rheumatic and autoinflammatory diseases requires the regular assessment of the level of disease activity and of child health and well-being through the use of well-validated outcome measures. Ideally, such instruments should be simple and feasible and easily applicable in standard clinical practice. In recent years, a number of novel outcome measures have been developed and validated for use in pediatric patients with rheumatic and autoinflammatory illnesses...
February 2016: Current Rheumatology Reports
S Kizildag, F Dedemoglu, A Anik, G Catli, S Kizildag, A Abaci, B Makay, E Bober, E Unsal
Familial Mediterranean fever (FMF) is an autosomal recessive, inherited autoinflammatory disease characterized by recurrent, self-limited attacks of fever, and inflammation of serosal surfaces. The aim of our study was to determine a possible relationship between Vitamin D receptor (VDR) gene polymorphisms and the risk of children with FMF. We investigated VDR FokI (rs10735810), TaqI (rs731236), BsmI (rs1544410), and ApaI (rs7975232) polymorphisms in 50 children with FMF and 150 age-matched healthy control subjects...
April 2016: Biochemical Genetics
J B Kümmerle-Deschner, J Thomas, S M Benseler
BACKGROUND: The primary vasculitides are rare conditions in childhood. The most common disease subtypes are Schönlein-Henoch purpura and Kawasaki's syndrome, which frequently have a self-limiting course. In the majority of vasculitides, the etiology remains unknown. Environmental exposure, including infections, is suspected to trigger an autoinflammatory response in predisposed individuals. GOAL: The aim of this review is to present the various aspects of childhood vasculitis...
December 2015: Zeitschrift Für Rheumatologie
Rezan Topaloglu, Ezgi Deniz Batu, Diclehan Orhan, Seza Ozen, Nesrin Besbas
BACKGROUND: Amyloidosis may complicate autoinflammatory diseases (AID). We aimed to evaluate the renal biopsy findings, and clinical and laboratory parameters in patients with AID-associated amyloidosis who have responded to anti-interleukin 1(IL1) treatment. METHODS: Two children with systemic juvenile idiopathic arthritis and one with cryopyrin-associated periodic syndrome diagnosed as having reactive amyloidosis were treated with anti-IL1 drugs. The renal histopathological findings at the time of diagnosis of amyloidosis and after the onset of anti-IL1 were evaluated according to the amyloid scoring/grading system...
April 2016: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
Jasmin B Kuemmerle-Deschner, Assen Koitschev, Pascal N Tyrrell, Stefan K Plontke, Norbert Deschner, Sandra Hansmann, Katharina Ummenhofer, Peter Lohse, Christiane Koitschev, Susanne M Benseler
BACKGROUND: Muckle-Wells-syndrome (MWS) is an autoinflammatory disease characterized by systemic and organ-specific inflammation due to excessive interleukin (IL)-1 release. Inner ear inflammation results in irreversible sensorineural hearing loss, if untreated. Early recognition and therapy may prevent deafness. The aims of the study were to characterize the spectrum of hearing loss, optimize the otologic assessment for early disease and determine responsiveness to anti-IL-1-therapy regarding hearing...
2015: Pediatric Rheumatology Online Journal
Estefanía Barral Mena, Xabier Freire Gómez, Eugenia Enríquez Merayo, Rocío Casado Picón, Pablo Bello Gutierrez, Jaime de Inocencio Arocena
INTRODUCTION: Non-bacterial chronic osteomyelitis (NBCO) is an autoinflammatory disease that presents with recurrent bouts of bone inflammation in the absence of microbiological isolation. It is a diagnosis of exclusion. Its treatment was classically based on the use of non-steroidal anti-inflammatory drugs (NSAIDs) and corticosteroids, although nowadays bisphosphonates or anti-tumour necrosis factor-α (anti-TNF) drugs are frequently used with good results. The objective of the study is to describe our experience in the diagnosis and treatment of patients with NBCO...
July 2016: Anales de Pediatría: Publicación Oficial de la Asociación Española de Pediatría (A.E.P.)
Eldad Ben-Chetrit, Hasan Yazici
Henoch-Schönlein purpura is a relatively common vasculitis mainly affecting children. It is characterized by purpuric skin rash, abdominal cramping, and haematuria. Skin biopsies taken from Henoch-Schönlein purpura lesions disclose perivascular IgA deposits. FMF is an autoinflammatory disease characterized by recurrent attacks of fever lasting 2-3 days which resolve spontaneously. Typical manifestations of the disease are peritonitis, pleuritis, pericarditis, arthritis and erysipelas-like erythema usually affecting the lower limbs...
July 2016: Rheumatology
Fabian Hauck, Sibylle Koletzko, Christoph Walz, Horst von Bernuth, Anne Klenk, Irene Schmid, Bernd H Belohradsky, Christoph Klein, Philip Bufler, Michael H Albert
BACKGROUND AND AIMS: X-linked chronic granulomatous disease [X-CGD] due to hemizygous mutations in CYBB is characterised by invasive bacterial and fungal infections and granulomatous inflammation. Inflammatory bowel disease [IBD] is an additional or isolated manifestation. Allogeneic haematopoietic stem cell transplantation [alloHSCT] is the standard curative treatment. X-CGD carriers are usually healthy but those with non-random X-chromosome inactivation [XCI] may develop infectious or autoinflammatory manifestations...
January 2016: Journal of Crohn's & Colitis
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