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autoinflammatory and vasculitis

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
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
Shira Ginsberg, Itzhak Rosner, Michel Rozenbaum, Gleb Slobodin, Karina Zilber, Nina Boulman, Lisa Kaly, Abid Awisat, Nizar Jiries, Ofrat Beyar-Katz, Doron Rimar
Autoinflammatory diseases are characterized by recurrent episodes of fever and localized or systemic inflammation and are caused by monogenic defects of innate immunity. The skin is commonly involved with various manifestations including erysipelas like rash and urticaria. Although vasculitis has been described in many autoinflammatory diseases, it has not been recognized as a characteristic feature of these diseases and autoinflammatory diseases are not listed as an etiology for vasculitis associated with a systemic disease in the 2012 Revised International Chapel Hill Consensus Conference Nomenclature of Vasculitides...
July 20, 2016: Seminars in Arthritis and Rheumatism
A Torrelo, L Noguera-Morel, A Hernández-Martín, D Clemente, J M Barja, L Buzón, D Azorín, A A de Jesús, J C López-Robledillo, I Colmenero, H Kutzner, R Goldbach-Mansky, L Requena
BACKGROUND: Recurrent panniculitis in children with lipoatrophy has been loosely described and reported under different names, but has never been systematically evaluated by immunohistochemical stains. OBJECTIVE: To depict the profile of children with recurrent idiopathic panniculitis. METHODS: Study of clinical, histopathological and immunohistochemical features in five cases with recurrent idiopathic panniculitis. RESULTS: Five children with repeated attacks of painful subcutaneous nodules in association with fever, malaise and abdominal pain or arthralgia, with subsequent lipoatrophy were reviewed...
August 12, 2016: Journal of the European Academy of Dermatology and Venereology: JEADV
Tal Ben-Ami, Shoshana Revel-Vilk, Rebecca Brooks, Avraham Shaag, Michael S Hershfield, Susan J Kelly, Nancy J Ganson, Shlomit Kfir-Erenfeld, Michael Weintraub, Orly Elpeleg, Yackov Berkun, Polina Stepensky
Adenosine deaminase 2 deficiency is an autoinflammatory disease, characterized by various forms of vasculitis. We describe 5 patients with adenosine deaminase 2 deficiency with various hematologic manifestations, including pure red cell aplasia, with no evidence for vasculitis.
October 2016: Journal of Pediatrics
Yunus Ugan, Atalay Doğru, Hüseyin Şencan, Mehmet Şahin, Şevket Ercan Tunç
Familial Mediterranean fever (FMF) is an autoinflammatory disorder with autosomal recessive inheritance, characterized by recurrent fever and episodes of serositis. The condition is known to be caused by mutations in the MEFV (Mediterranean FeVer) gene, located in the short arm of chromosome 16. While more than 310 sequence variants in the MEFV gene have been described to date, the diagnosis is still established clinically. FMF may be accompanied by sacroiliitis and various forms of vasculitis. The most common forms of associated vasculitis are Henoch-Schonlein purpura and polyarteritis nodosa (PAN)...
2016: Case Reports in Medicine
Éric Toussirot, Matthieu Bereau
Vaccines have been suspected of playing a role in inducing autoimmune disease (AID) for a long time. However, apart from certain specific vaccine strains and complications (such as the swine flu vaccine and Guillain-Barré syndrome in 1976, thrombocytopenia and the Measles-Mumps-Rubella vaccine), this role has not been established. In spite of this, many isolated cases or series of cases of arthritis, vasculitis, and central or peripheral nervous system symptoms following vaccination have been reported. These cases tend to be very infrequent and usually only the shortterm outcomes are described...
2015: Inflammation & Allergy Drug Targets
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
E Balada, A Selva-O'Callaghan, L Felip, J Ordi-Ros, C P Simeón-Aznar, R Solans-Laqué, M Vilardell-Tarrés
BACKGROUND: Overactivation of the interferon pathways has been demonstrated in patients suffering from different systemic autoimmune diseases (SADs). Genetic associations have been described for many genes involved in these pathways. Gain-of-function mutations in the TMEM173 gene have recently been reported in patients with autoinflammatory diseases that share some clinical features with SADs. METHODS: We aimed at detecting the reported three mutations of transmembrane protein 173 (TMEM173) exon 5 in 100 patients suffering from: systemic lupus erythematosus (SLE) (n = 22), primary antiphospholipid syndrome (PAPS) (n = 20), systemic sclerosis (SSc) (n = 20), dermatomyositis (DM) (n = 20), and vasculitis (n = 18)...
2016: Autoimmunity
M Merelli, L Quartuccio, M Bassetti, D Pecori, S Gandolfo, C Avellini, S De Vita
Cytophagic histiocytic panniculitis (CHP) is a rare panniculitis characterized by systemic features, due to histiocytic infiltration along with haemophagocytosis, which may also appear in bone marrow, spleen, lymph nodes, and liver. Haemophagocytic lymphohistiocytosis (HLH) is a group of autoinflammatory disorders, which include macrophage activation syndrome, sometimes observed in the course of systemic autoimmune diseases, such as juvenile chronic polyarthritis, systemic lupus erythematosus or vasculitis, and infection-associated haemophagocytic syndrome; if not promptly recognised and treated, HLH can be fatal...
November 2015: Clinical and Experimental Rheumatology
Miria Paula V Cavalcante, Juliana B Brunelli, Clarissa C Miranda, Glaucia V Novak, Louise Malle, Nadia E Aikawa, Adriana A Jesus, Clovis Artur Silva
UNLABELLED: We described herein a patient with chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE) syndrome and a novel mutation in PSMB8 gene. This patient had multiple visceral inflammatory involvements, including rare manifestations, such as Sweet syndrome and pericarditis. A 3-year-old male, Caucasian, was born to consanguineous healthy parents. At the age of 11 months, he presented daily fever (temperature >40 °C), irritability, hepatomegaly, splenomegaly; and tender and itching, erythematous papular and edematous plaque lesions...
May 2016: European Journal of Pediatrics
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
En Hyung Kim, Mi-Jin Park, Sun Park, Eun-So Lee
BACKGROUND: Behçet's disease (BD) is a systemic inflammatory disease with manifestations including recurrent oral and genital ulcerations, and vasculitis involving the skin, mucosa, joints, eyes, veins, arteries, nervous and gastrointestinal systems. BD is seen as a disease at the crossroad between autoimmune and autoinflammatory syndromes, possibly triggered by an aberrant response to infectious stimuli. The relevance of Gram negative bacteria-mediated oral inflammation with the increased expression of NACHT, LRR, and PYD domains-containing protein 3 (NLRP3), leading to systemic inflammation, prompted us to investigate the expression of NLRP3 inflammasome components and its link with IL-1β hypersecretion...
2015: Journal of Inflammation
Ahmet Gül
Behçet's disease (BD) is an inflammatory disorder of unknown aetiology characterised by recurrent attacks affecting the mucocutaneous tissues, eyes, joints, blood vessels, brain and gastrointestinal tract. It is a multifactorial disease classified as a variable vessel vasculitis, and several environmental triggers may induce inflammatory episodes in genetically susceptible individuals. BD has several autoinflammatory features including recurrent self-limited clinical manifestations overlapping with monogenic autoinflammatory disorders, significant host predisposition and abnormally increased inflammatory response, with a robust innate component...
July 2015: Seminars in Immunopathology
A V Marzano, S Tavecchio, M Venturini, R Sala, P Calzavara-Pinton, M Gattorno
Urticaria is a frequent disorder classified as acute and chronic forms, which presents with wheals that can be associated with angioedema. Several entities may manifest with urticarial skin lesions, encompassing a heterogeneous group of conditions that have to be differentiated from ordinary urticaria. This review is focused on two of these urticarial syndromes: urticarial vasculitis (UV), which represents the most important differential diagnosis with common urticaria, and autoinflammatory diseases such as cryopyrin-associated periodic syndromes (CAPS) and Schnitzler's Syndrome, both rare multisystem forms that may masquerade as common urticaria...
February 2015: Giornale Italiano di Dermatologia e Venereologia: Organo Ufficiale, Società Italiana di Dermatologia e Sifilografia
M-S Doutre
Systemic urticaria are defined as urticaria, most often chronic, associated with systemic diseases. At present time, urticarial vasculitis and neutrophilic urticarial dermatosis associated to autoinflammatory syndromes are not considered to be subtypes of chronic spontaneous urticaria due to their distinctly clinical and histological characteristics as well different pathomechanisms. Sometimes, chronic urticaria is associated to thyroid autoimmunity. However, the majority of cases of chronic spontaneous urticaria have no discernible cause and further investigations are not necessary, as already suggested by some authors and French consensus conference more than 10 years ago...
November 2014: Annales de Dermatologie et de Vénéréologie
Shigetsuna Komatsu, Masaru Honma, Satomi Igawa, Hitomi Tsuji, Akemi Ishida-Yamamoto, Kiyoshi Migita, Hiroaki Ida, Hajime Iizuka
Familial Mediterranean Fever (FMF) is a hereditary autoinflammatory disease, which is characterized by recurrent and paroxysmal fever, peritonitis, arthritis, myalgia, and skin rashes. Although various skin lesions such as "erysipelas-like erythema", urticaria, nonspecific purpura, and subcutaneous nodules have been described, cutaneous vasculitis is rare. We report a Japanese case of sporadic FMF accompanied by cutaneous arteritis at the time of febrile attacks of FMF. Gene analysis revealed M694I mutation in a single allele of the MEFV gene, and oral colchicine successfully controlled both periodic fever and subcutaneous nodules of arteritis...
September 2014: Journal of Dermatology
Ken-Ichi Yamaguchi, Yasuhito Nerome, Tomoyuki Imagawa
BACKGROUND/PURPOSE: Performing quality clinical and translational research in pediatric rheumatic diseases (eg. Juvenile Idiopathic Arthritis (JIA), Child onset Systemic Lupus Erythematosus (cSLE) and Juvenile Dermatomyositis (JDM)) had been difficult due the rarity of these diseases. METHODS: Professor Takei, the former chairman of Pediatric Rheumatology Association of Japan (PRAJ), had ordered his working group to set up a new registry system in 2012. We, working group, have set up Japanese online registry for pediatric rheumatic disease in 2014 and have named it as Pediatric Rheumatology International Collaboration Unit Registry (PRICURE)...
March 2014: Arthritis & Rheumatology
Maryam Mobini
BACKGROUND: Familial Mediterranean fever (FMF) is the most prevalent disorder among the hereditary autoinflammatory syndromes. This disorder is characterized by fever and some painful attacks such as abdominal, chest or joint pain and potentially development of AA amyloidosis. Several vasculitis are more common in FMF than general population. There are some reports about association of FMF with Behcet Disease (BD). CASE PRESENTATION: In this study, we describe a 27 year old patient with BD who suffered from attacks of fever, arthralgia, abdominal pain and genetic study confirmed the diagnosis of FMF...
2011: Caspian Journal of Internal Medicine
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