PW03-034 – How to classify autoinflammatory diseases?

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PW03-034 – How to classify autoinflammatory diseases?

Results We propose a clinically-oriented definition: “autoinflammatory diseases are diseases with clinical signs of inflammation, associated with elevated acute phase reactants and due to a dysfunction in the innate immune system, genetically determined or triggered by an endogenous factor”. It is hard to find natural properties able to underlie a useful classification of autoinflammatory disea...

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PW03-035 – Autoinflammatory diseases diagnostic chart/tool

Introduction There is great interest in having a reference chart to increase awareness and improve accurate diagnosis for systemic autoinflammatory diseases (SAID), which arealso classical primary immunodeficiency diseases. We have created this wall chart that includes all currently known SAIDs, and arranged the information so that a clinician could compare various symptoms, abnormal labs, gene...

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How experts on autoinflammatory diseases classify inherited periodic fevers: preliminary results of the Eurofever Delphi Survey

Background Provisional evidence-based classification criteria for Familial Mediterranean Fever (FMF), Cryopyrin Associated Periodic Syndrome (CAPS), Tumor Necrosis factor Receptor Associated Periodic Syndrome (TRAPS) and Mevalonate Kinase Deficiency (MKD) have been recently developed based on data coming from the Eurofever registry. However, no consensus on how to combine clinical criteria with...

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How not to miss autoinflammatory diseases masquerading as urticaria.

Urticarial skin reactions are one of the most frequent problems seen by allergists and clinical immunologists in daily practice. The most common reason for recurrent wheals is spontaneous urticaria. There are, however, several less common diseases that present with urticarial rash, such as urticarial vasculitis and autoinflammatory disorders. The latter include cryopyrin-associated periodic syn...

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PW03-033 - SLC29A3 mutation: a new autoinflammatory condition

Introduction Germline mutations in SLC29A3 result in a range of clinically related, recessive syndromes: H syndrome, pigmented hypertrichosis with insulin-dependent diabetes mellitus (PHID) syndrome, Faisalabad histiocytosis (FHC), and sinus histiocytosis with massive lymphadenopathy (SHML). Main symptoms of these diseases are hyperpigmentation with hypertrichosis, sensorineural deafness, diabe...

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ژورنال

عنوان ژورنال: Pediatric Rheumatology

سال: 2013

ISSN: 1546-0096

DOI: 10.1186/1546-0096-11-s1-a260