PW03-035 – Autoinflammatory diseases diagnostic chart/tool
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چکیده
منابع مشابه
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...
متن کاملPW03-034 – 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...
متن کاملPW03-033 - 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...
متن کاملSkin symptoms as diagnostic clue for autoinflammatory diseases*
Autoinflammatory disorders are immune-mediated diseases with increased production of inflammatory cytokines and absence of detectable autoantibodies. They course with recurrent episodes of systemic inflammation and fever is the most common symptom. Cutaneous manifestations are prevalent and important to diagnosis and early treatment of the syndromes. The purpose of this review is to emphasize t...
متن کاملThe autoinflammatory diseases.
The monogenic autoinflammatory syndromes are conditions caused by mutations of genes coding for proteins that play a pivotal role in the regulation of the inflammatory response. Due to their genetic nature, most of these disorders have an early onset. Clinically they are characterised by recurrent flares of systemic inflammation presenting most of the time as sudden fever episodes associated ...
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ژورنال
عنوان ژورنال: Pediatric Rheumatology
سال: 2013
ISSN: 1546-0096
DOI: 10.1186/1546-0096-11-s1-a261