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Published in: Pediatric Rheumatology 1/2013

Open Access 01-11-2013 | Meeting abstract

P02-033 - CAPS diagnosis and treatment in an Israeli family

Authors: Y Shinar, G Breuer, A Livneh, P Hashkes

Published in: Pediatric Rheumatology | Special Issue 1/2013

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Excerpt

Only one family in Israel, from Ethiopian Jewish origin has been diagnosed with the familial cold autoinflammatory syndrome phenotype of the cryopyrin associated periodic syndromes (CAPS)[1]. …
Literature
1.
go back to reference Shalev SA, Sprecher E, Indelman M, Hujirat Y, Bergman R, Rottem M: A novel missense mutation in CIAS1 encoding the pyrin-like protein, cryopyrin, causes familial cold autoinflammatory syndrome in a family of ethiopian origin. Int Arch Allergy Immunol. 2007, 143: 190-3. 10.1159/000099311.CrossRefPubMed Shalev SA, Sprecher E, Indelman M, Hujirat Y, Bergman R, Rottem M: A novel missense mutation in CIAS1 encoding the pyrin-like protein, cryopyrin, causes familial cold autoinflammatory syndrome in a family of ethiopian origin. Int Arch Allergy Immunol. 2007, 143: 190-3. 10.1159/000099311.CrossRefPubMed
2.
go back to reference Dodé C, Le Dû N, Cuisset L: New mutations of CIAS1 that are responsible for Muckle-Wells syndrome and familial cold urticaria: a novel mutation underlies both syndromes. Am J Hum Genet. 2002, 70: 1498-506. 10.1086/340786.PubMedCentralCrossRefPubMed Dodé C, Le Dû N, Cuisset L: New mutations of CIAS1 that are responsible for Muckle-Wells syndrome and familial cold urticaria: a novel mutation underlies both syndromes. Am J Hum Genet. 2002, 70: 1498-506. 10.1086/340786.PubMedCentralCrossRefPubMed
Metadata
Title
P02-033 - CAPS diagnosis and treatment in an Israeli family
Authors
Y Shinar
G Breuer
A Livneh
P Hashkes
Publication date
01-11-2013
Publisher
BioMed Central
Published in
Pediatric Rheumatology / Issue Special Issue 1/2013
Electronic ISSN: 1546-0096
DOI
https://doi.org/10.1186/1546-0096-11-S1-A140

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