CRYOPYRIN ASSOCIATED PERIODIC SYNDROME

Cryopyrin associated periodic syndrome (CAPS) can be represented by various clinical variants of disease course with different severity of clinical manifestations — from mild to severe (FCAS, MWS, NOMID/CINCA). They are caused by mutations of NLRP3 gene, encoding cryopyrin. Mutations of cryopyrin ge...

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Main Author: M. Gattorno
Format: Article
Language:English
Published: "Paediatrician" Publishers LLC 2013-02-01
Series:Вопросы современной педиатрии
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Online Access:https://vsp.spr-journal.ru/jour/article/view/394
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author M. Gattorno
author_facet M. Gattorno
author_sort M. Gattorno
collection DOAJ
description Cryopyrin associated periodic syndrome (CAPS) can be represented by various clinical variants of disease course with different severity of clinical manifestations — from mild to severe (FCAS, MWS, NOMID/CINCA). They are caused by mutations of NLRP3 gene, encoding cryopyrin. Mutations of cryopyrin gene in humans lead to excessive and accelerated production of interleukin 1b. The key role of cryopyrin in massive secretion of active form of interleukin 1b suggested the possibility of treatment aimed against this cytokine.
format Article
id doaj-art-45e09a7701b64b809d9859e96d9439b0
institution Matheson Library
issn 1682-5527
1682-5535
language English
publishDate 2013-02-01
publisher "Paediatrician" Publishers LLC
record_format Article
series Вопросы современной педиатрии
spelling doaj-art-45e09a7701b64b809d9859e96d9439b02025-08-04T13:09:28Zeng"Paediatrician" Publishers LLCВопросы современной педиатрии1682-55271682-55352013-02-01121576210.15690/vsp.v12i1.558394CRYOPYRIN ASSOCIATED PERIODIC SYNDROMEM. Gattorno0UO Pediatria II — Reumatologia, Instituto G. Gaslini, GenoaCryopyrin associated periodic syndrome (CAPS) can be represented by various clinical variants of disease course with different severity of clinical manifestations — from mild to severe (FCAS, MWS, NOMID/CINCA). They are caused by mutations of NLRP3 gene, encoding cryopyrin. Mutations of cryopyrin gene in humans lead to excessive and accelerated production of interleukin 1b. The key role of cryopyrin in massive secretion of active form of interleukin 1b suggested the possibility of treatment aimed against this cytokine.https://vsp.spr-journal.ru/jour/article/view/394cryopyrin associated periodic syndromes, nlrp3 gene mutation, interleukin 1β
spellingShingle M. Gattorno
CRYOPYRIN ASSOCIATED PERIODIC SYNDROME
Вопросы современной педиатрии
cryopyrin associated periodic syndromes, nlrp3 gene mutation, interleukin 1β
title CRYOPYRIN ASSOCIATED PERIODIC SYNDROME
title_full CRYOPYRIN ASSOCIATED PERIODIC SYNDROME
title_fullStr CRYOPYRIN ASSOCIATED PERIODIC SYNDROME
title_full_unstemmed CRYOPYRIN ASSOCIATED PERIODIC SYNDROME
title_short CRYOPYRIN ASSOCIATED PERIODIC SYNDROME
title_sort cryopyrin associated periodic syndrome
topic cryopyrin associated periodic syndromes, nlrp3 gene mutation, interleukin 1β
url https://vsp.spr-journal.ru/jour/article/view/394
work_keys_str_mv AT mgattorno cryopyrinassociatedperiodicsyndrome