PW03-033 - SLC29A3 mutation: a new autoinflammatory condition
نویسندگان
چکیده
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, diabetes, short stature, uveitis and “Rosai-Dorfman-like” histiocytosis.
منابع مشابه
Mutation 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, ...
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Introduction Schnitzler’s syndrome (SchS) is an autoinflammatory disorder, characterized by chronic urticaria, fever, gammopathy and bone pain. The etiology is unknown, but interleukin-1 (IL-1) inhibition is very effective, like in the cryopyrin associated periodic syndrome (CAPS), that is caused by activating NLRP3 mutations. Previously, a V198M mutation in NLRP3 was reported in one patient wi...
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Introduction Periodic Fever, Aphthous stomatitis, Pharyngitis and Adenitis (PFAPA) syndrome is an autoinflammatory disorder of childhood and little is known about the underlying etiology. While mutations involving the IL-1 pathway have been identified in other recurrent fever disorders, including TNF-receptor associated periodic syndrome (TRAPS) and cryopyrin-associated periodic syndrome (CAPS)...
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