Monogenic autoinflammatory diseases: concept and clinical manifestations. - Wikidata - awgldk - TriplyDB

Monogenic autoinflammatory diseases: concept and clinical manifestations.

Monogenic autoinflammatory diseases: concept and clinical manifestations.

http://www.wikidata.org/entity/Q37162157

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Comprehensive immunophenotyping of cerebrospinal fluid cells in patients with neuroimmunological diseases Recurrent Fever in Children Fever tree revisited: From malaria to autoinflammatory diseases Mucocutaneous Involvement in Behçet's Disease: How Systemic Treatment Has Changed in the Last Decades and Future Perspectives Chronic Infantile Neurological Cutaneous and Articular (CINCA) syndrome: a review Perinatal manifestation of mevalonate kinase deficiency and efficacy of anakinra Evasion of inflammasome activation by microbial pathogens Early-onset autoimmune disease as a manifestation of primary immunodeficiency A Novel Mutation in the Pyrin Domain of the NOD-like Receptor Family Pyrin Domain Containing Protein 3 in Muckle-Wells Syndrome.Identification of multifaceted binding modes for pyrin and ASC pyrin domains gives insights into pyrin inflammasome assembly.Caspase-1: an integral regulator of innate immunity.[Caspase-1 regulates autoinflammation in rheumatic diseases].Periodic Fever: A Review on Clinical, Management and Guideline for Iranian Patients - Part II.Histologic and Immunohistochemical Features of the Skin Lesions in CANDLE Syndrome.Interleukin-1 receptor antagonist deficiency with a novel mutation; late onset and successful treatment with canakinumab: a case report Maintaining intestinal health: the genetics and immunology of very early onset inflammatory bowel disease.Association of pyoderma gangrenosum, acne, and suppurative hidradenitis (PASH) shares genetic and cytokine profiles with other autoinflammatory diseases.Histopathologic features in a case of hyperimmunoglobulinemia D syndrome.Identification of a Novel NLRP12 Nonsense Mutation (Trp408X) in the Extremely Rare Disease FCAS by Exome Sequencing Skin symptoms as diagnostic clue for autoinflammatory diseases.Pyoderma gangrenosum: pathogenetic oriented treatment approaches.Drug management of neutrophilic dermatoses.Genetically defined autoinflammatory diseases.PAPA, PASH and PAPASH Syndromes: Pathophysiology, Presentation and Treatment.Pyoderma gangrenosum and its syndromic forms: evidence for a link with autoinflammation.SAPHO Syndrome: Current Developments and Approaches to Clinical Treatment.Unexpectedly high incidences of chronic non-bacterial as compared to bacterial osteomyelitis in children.An Update on the Use of Immunomodulators in Primary Immunodeficiencies.Dermatologic Manifestations of Monogenic Autoinflammatory Diseases.Are neutrophilic dermatoses autoinflammatory disorders?Pyogenic arthritis, pyoderma gangrenosum, and acne (PAPA) syndrome: differential diagnosis of septic arthritis by regular detection of exceedingly high synovial cell counts.MEFV mutations in Egyptian children with systemic-onset juvenile idiopathic arthritis.The role of monogenic disease in children with very early onset inflammatory bowel disease.Muckle-Wells syndrome: clinical perspectives.IL-1β and Caspase-1 Drive Autoinflammatory Disease Independently of IL-1α or Caspase-8 in a Mouse Model of Familial Mediterranean Fever.Recurrent lipoatrophic panniculitis of children.IL36RN mutation causing generalized pustular psoriasis in a Palestinian patient.Caseous granuloma: tuberculosis or chronic recurrent multifocal osteomyelitis?Accurate clinical genetic testing for autoinflammatory diseases using the next-generation sequencing platform MiSeq Autoinflammatory bone disorders with special focus on chronic recurrent multifocal osteomyelitis (CRMO).

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Monogenic autoinflammatory diseases: concept and clinical manifestations.

http://www.wikidata.org/entity/Q37162157

description

article científic

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article scientifique

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articolo scientifico

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artigo científico

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bilimsel makale

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scientific article published on 09 April 2013

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vedecký článok

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vetenskaplig artikel

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videnskabelig artikel

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vědecký článek

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name

Monogenic autoinflammatory diseases: concept and clinical manifestations.

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Monogenic autoinflammatory diseases: concept and clinical manifestations.

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type

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Monogenic autoinflammatory diseases: concept and clinical manifestations.

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Monogenic autoinflammatory diseases: concept and clinical manifestations.

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prefLabel

Monogenic autoinflammatory diseases: concept and clinical manifestations.

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Monogenic autoinflammatory diseases: concept and clinical manifestations.

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J.CLIM.2013.03.016

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Clinical Immunology

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Monogenic autoinflammatory diseases: concept and clinical manifestations.

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Adriana Almeida de Jesus

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Raphaela Goldbach-Mansky

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P2860

Mutations in MVK, encoding mevalonate kinase, cause hyperimmunoglobulinaemia D and periodic fever syndrome

Mutation of a new gene encoding a putative pyrin-like protein causes familial cold autoinflammatory syndrome and Muckle-Wells syndrome

Immunodeficiency, autoinflammation and amylopectinosis in humans with inherited HOIL-1 and LUBAC deficiency

De novo CIAS1 mutations, cytokine activation, and evidence for genetic heterogeneity in patients with neonatal-onset multisystem inflammatory disease (NOMID): a new member of the expanding family of pyrin-associated autoinflammatory diseases

A mutation in the immunoproteasome subunit PSMB8 causes autoinflammation and lipodystrophy in humans

AA amyloidosis complicating hyperimmunoglobulinemia D with periodic fever syndrome: a report of two cases

The tumor-necrosis-factor receptor-associated periodic syndrome: new mutations in TNFRSF1A, ancestral origins, genotype-phenotype studies, and evidence for further genetic heterogeneity of periodic fevers.

An autoinflammatory disease with deficiency of the interleukin-1-receptor antagonist

New mutations of CIAS1 that are responsible for Muckle-Wells syndrome and familial cold urticaria: a novel mutation underlies both syndromes

Horror autoinflammaticus: the molecular pathophysiology of autoinflammatory disease (*)

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10.1016/J.CLIM.2013.03.016

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