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Autoinflammatory Syndromes
The Experts below are selected from a list of 3534 Experts worldwide ranked by ideXlab platform
Anna Simon – 1st expert on this subject based on the ideXlab platform
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systemic Autoinflammatory Syndromes
Clinical Immunology (Fourth Edition), 2019Co-Authors: Catharina M Muldersmanders, J W M Van Der Meer, Jeroen Van Der Hilst, Anna SimonAbstract:Abstract Autoinflammatory diseases are characterized by recurrent episodes of inflammation, accompanied by a wide range of inflammatory symptoms, including fever, abdominal pain, skin rash, arthralgias, and myalgias. There can be frank signs of peritonitis, pericarditis, or arthritis. Many Autoinflammatory diseases have a genetic background, and major progress has been made in identifying specific disease-inducing mutations. The common pathophysiological feature of Autoinflammatory Syndromes is the increased production of interleukin-1 (IL-1), making drugs targeting this cytokine the treatment of choice. The exception to this is familial Mediterranean fever, where anti–IL-1-therapy is only indicated when treatment with colchicine is ineffective. Adequate control of inflammation is necessary to prevent amyloid A (AA) amyloidosis.
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Clinical Immunology (Fourth Edition) – Systemic Autoinflammatory Syndromes
, 2018Co-Authors: Catharina M. Mulders-manders, Jeroen Van Der Hilst, J W M Van Der Meer, Anna SimonAbstract:Abstract Autoinflammatory diseases are characterized by recurrent episodes of inflammation, accompanied by a wide range of inflammatory symptoms, including fever, abdominal pain, skin rash, arthralgias, and myalgias. There can be frank signs of peritonitis, pericarditis, or arthritis. Many Autoinflammatory diseases have a genetic background, and major progress has been made in identifying specific disease-inducing mutations. The common pathophysiological feature of Autoinflammatory Syndromes is the increased production of interleukin-1 (IL-1), making drugs targeting this cytokine the treatment of choice. The exception to this is familial Mediterranean fever, where anti–IL-1-therapy is only indicated when treatment with colchicine is ineffective. Adequate control of inflammation is necessary to prevent amyloid A (AA) amyloidosis.
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the challenge of Autoinflammatory Syndromes with an emphasis on hyper igd syndrome
Rheumatology, 2016Co-Authors: J W M Van Der Meer, Anna SimonAbstract:Autoinflammatory Syndromes are disorders with an exaggerated inflammatory response, mostly in the absence of an appropriate trigger. Prototypic Autoinflammatory Syndromes are FMF, hyper-IgD syndrome (also known as mevalonate kinase deficiency), TNF receptor-associated periodic syndrome and cryopyrin-associated periodic syndrome. The clinical phenotypes partly overlap (with fever and acute phase response), but also differ between the various Syndromes (e.g. regarding fever pattern, episodic vs chronic inflammation and accompanying clinical signs). In recent years, the genetic basis of quite a number of these relatively rare and mostly hereditary disorders has been elucidated. These genetic defects lead to either enhanced production of inflammatory mediators or to a lack of inhibition of these components of the innate immune system. Among these dysregulated inflammatory mediators, the pro-inflammatory cytokine IL-1beta stands out. Hence, targeted treatment with blockers of IL-1 action, such as recombinant IL-1 receptor antagonist (IL-1Ra, anakinra) and mAb against IL-1beta has met with impressive clinical results. In this article, hyper-IgD syndrome is discussed in more detail, based on 30 years of experience with this syndrome.
J W M Van Der Meer – 2nd expert on this subject based on the ideXlab platform
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systemic Autoinflammatory Syndromes
Clinical Immunology (Fourth Edition), 2019Co-Authors: Catharina M Muldersmanders, J W M Van Der Meer, Jeroen Van Der Hilst, Anna SimonAbstract:Abstract Autoinflammatory diseases are characterized by recurrent episodes of inflammation, accompanied by a wide range of inflammatory symptoms, including fever, abdominal pain, skin rash, arthralgias, and myalgias. There can be frank signs of peritonitis, pericarditis, or arthritis. Many Autoinflammatory diseases have a genetic background, and major progress has been made in identifying specific disease-inducing mutations. The common pathophysiological feature of Autoinflammatory Syndromes is the increased production of interleukin-1 (IL-1), making drugs targeting this cytokine the treatment of choice. The exception to this is familial Mediterranean fever, where anti–IL-1-therapy is only indicated when treatment with colchicine is ineffective. Adequate control of inflammation is necessary to prevent amyloid A (AA) amyloidosis.
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Clinical Immunology (Fourth Edition) – Systemic Autoinflammatory Syndromes
, 2018Co-Authors: Catharina M. Mulders-manders, Jeroen Van Der Hilst, J W M Van Der Meer, Anna SimonAbstract:Abstract Autoinflammatory diseases are characterized by recurrent episodes of inflammation, accompanied by a wide range of inflammatory symptoms, including fever, abdominal pain, skin rash, arthralgias, and myalgias. There can be frank signs of peritonitis, pericarditis, or arthritis. Many Autoinflammatory diseases have a genetic background, and major progress has been made in identifying specific disease-inducing mutations. The common pathophysiological feature of Autoinflammatory Syndromes is the increased production of interleukin-1 (IL-1), making drugs targeting this cytokine the treatment of choice. The exception to this is familial Mediterranean fever, where anti–IL-1-therapy is only indicated when treatment with colchicine is ineffective. Adequate control of inflammation is necessary to prevent amyloid A (AA) amyloidosis.
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the challenge of Autoinflammatory Syndromes with an emphasis on hyper igd syndrome
Rheumatology, 2016Co-Authors: J W M Van Der Meer, Anna SimonAbstract:Autoinflammatory Syndromes are disorders with an exaggerated inflammatory response, mostly in the absence of an appropriate trigger. Prototypic Autoinflammatory Syndromes are FMF, hyper-IgD syndrome (also known as mevalonate kinase deficiency), TNF receptor-associated periodic syndrome and cryopyrin-associated periodic syndrome. The clinical phenotypes partly overlap (with fever and acute phase response), but also differ between the various Syndromes (e.g. regarding fever pattern, episodic vs chronic inflammation and accompanying clinical signs). In recent years, the genetic basis of quite a number of these relatively rare and mostly hereditary disorders has been elucidated. These genetic defects lead to either enhanced production of inflammatory mediators or to a lack of inhibition of these components of the innate immune system. Among these dysregulated inflammatory mediators, the pro-inflammatory cytokine IL-1beta stands out. Hence, targeted treatment with blockers of IL-1 action, such as recombinant IL-1 receptor antagonist (IL-1Ra, anakinra) and mAb against IL-1beta has met with impressive clinical results. In this article, hyper-IgD syndrome is discussed in more detail, based on 30 years of experience with this syndrome.
Marco Gattorno – 3rd expert on this subject based on the ideXlab platform
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urticarial vasculitis and urticarial Autoinflammatory Syndromes
Giornale italiano di dermatologia e venereologia : organo ufficiale Società italiana di dermatologia e sifilografia, 2015Co-Authors: Angelo V Marzano, Simona Tavecchio, Marina Venturini, Raffaella Sala, Piergiacomo Calzavarapinton, Marco GattornoAbstract:Abstract 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. UV is a small-vessel vasculitis with predominant skin involvement, characterized by wheals persisting for more than 24 hours, burning rather than itching and resolving with hyperpigmentation as well as by other cutaneous manifestations including purpura, papules, vesicles, bullae and necrotic-ulcerative lesions. Histology shows a classic pattern of leukocytoclastic vasculitis, with possible presence of upper dermal edema. CAPS are classified as three distinct entities: familial cold Autoinflammatory syndrome, Muckle-Wells Syndrome and chronic infantile neurological cutaneous and articular syndrome, which represent a spectrum of disorders caused by different mutations in a single gene, NLRP3 (NOD-like receptor 3). This gene encodes for cryopyrin, an inflammasome protein that activates interleukin-1β, leading to an overproduction of this pivotal proinflammatory cytokine. Histologically, urticarial lesions are generally characterized by a perivascular neutrophilic infiltrate. Unlike urticaria, neither UV nor urticarial Autoinflammatory Syndromes do respond to antihistamines: thus, it is important not to misdiagnose such conditions in order to give the patients specific treatments, potentially preventing serious systemic complications.
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ab1201 diversity in clinical manifestations of Autoinflammatory Syndromes in a french paediatric rheumatology referral center
Annals of the Rheumatic Diseases, 2013Co-Authors: S Boiu, Marco Gattorno, Richard Mouy, S Compeyrotlacassagne, Benedicte Neven, Carine Wouters, Pierre QuartierAbstract:Background The Autoinflammatory Syndromes (AISs) include monogenic and polygenic disorders characterized by primary dysfunction of the innate immune system. Objectives To describe the clinical spectrum, genetic background and therapy in a cohort of AIS patients followed in a reference Pediatric Rheumatology center. Methods Medical records of AIS patients followed until November 2010 and entered in the Eurofever Registry were studied. Results Fifty six patients were included: 17 CAPS, 4 TRAPS, 5 HIDS, 18 FMF, 6 CRMO, 2 SAPHO and 4 Behcet’s Disease (BD). The median follow-up was 2 years (0-14 years). The male/female ratio was 20/36. The median age was 2.5 years at disease onset and 4 years at diagnosis. Family history was positive in 34% of patients. Clinical manifestations included fever (79%), musculoskeletal (77%), gastrointestinal (63%), mucocutaneous (61%), neurological (41%), ocular (34%), cardiorespiratory (13%), and genitourinary (2%) findings, lymphadenopathy with/or hepatosplenomegaly (16%) and growth impairment (25%). The main organ system manifestations were arthralgia (70%), abdominal pain (50%), urticarial rash (34%), headache (34%), conjunctivitis (16%), generalized lymph node enlargement (13%), and chest pain (9%). Complications/sequelae developed in 45% of patients and involved the musculoskeletal (25%), neurological (21%), gastrointestinal (11%) and ocular (7%) systems. Six patients presented with severe/unusual manifestations: neonatal peritonitis (1 CAPS), pancreatitis (1 TRAPS), acute glomerulonephritis (1 FMF), complicated Henoch-Schonlein purpura (1 FMF), peritoneal adhesions with intestinal occlusion (1 FMF), periorbital pain (1 CRMO) and cerebral thrombosis (1 BD). AISs were associated with other diseases in 2 patients (FMF/Henoch-Schonlein purpura and CRMO/enthesitis-related arthritis). One mutant allele was found in 16/17 CAPS, 4/4 TRAPS and 4/18 FMF patients. Two mutant allelles were present in 5/5 HIDS and 11/18 FMF patients.The most used therapeutic agents were biologics (54%) (anakinra, canakinumab, etanercept, adalimumab), NSAIDs (48%), colchicine (45%) and corticosteroids (29%). Anti-interleukin-1 therapy and colchicine proved efficacy in CAPS and FMF patients, respectively. In addition, favorable responses demonstrated anti-interleukin-1 therapy in TRAPS, HIDS and colchicine-resistant FMF patients, as well as etanercept in TRAPS, HIDS and CRMO patients non-responsive to NSAIDs. Fifty seven% and 41% of patients were in complete and partial remission, respectively, at last visit. Conclusions AISs in children are associated with a broad spectrum of manifestations. A detailed history, thorough review of clinical manifestations and molecular testing of specific causative genes can provide early and accurate diagnosis and institution of efficient therapy. Disclosure of Interest None Declared
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pyogenic arthritis pyoderma gangrenosum acne and hidradenitis suppurativa papash a new Autoinflammatory syndrome associated with a novel mutation of the pstpip1 gene
JAMA Dermatology, 2013Co-Authors: Angelo V Marzano, Marco Gattorno, Isabella Ceccherini, V Trevisan, Clara De Simone, Carlo CrostiAbstract:The PASH triad (pyoderma gangrenosum, acne, and hidradenitis suppurativa) has recently been described in 2 unrelated patients as a new entity within the spectrum of Autoinflammatory Syndromes.1- 2 PASH syndrome is similar to PAPA syndrome (pyogenic arthritis, acne, and pyoderma gangrenosum) but differs insofar as it lacks the associated arthritis and has a different genetic basis.3 PAPA syndrome is caused by mutations in the proline-serine-threonine-phosphatase protein 1 (PSTPIP1) gene (OMIM: 606347) that is involved in regulating innate immune responses, whereas no mutations have yet been detected in PASH syndrome.