PW03-033 - SLC29A3 mutation: a new autoinflammatory condition
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چکیده
منابع مشابه
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...
متن کاملMutation in the SLC29A3 gene: a new cause of a monogenic, autoinflammatory condition.
Germline mutations in the SLC29A3 gene result in a range of recessive, clinically related syndromes: H syndrome, pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome, Faisalabad histiocytosis, and sinus histiocytosis with massive lymphadenopathy. The main symptoms of these diseases are hyperpigmentation with hypertrichosis, sensorineural deafness, diabetes, short stature, ...
متن کاملMutation in the SLC29A3 Gene: A New Cause of a Monogenic, Autoinflammatory Condition abstract
Germline mutations in the SLC29A3 gene result in a range of recessive, clinically related syndromes: H syndrome, pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome, Faisalabad histiocytosis, and sinus histiocytosis with massive lymphadenopathy. The main symptoms of these diseases are hyperpigmentation with hypertrichosis, sensorineural deafness, diabetes, short stature, ...
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 کاملPW03-035 – 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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ژورنال
عنوان ژورنال: Pediatric Rheumatology
سال: 2013
ISSN: 1546-0096
DOI: 10.1186/1546-0096-11-s1-a259