Cryopyrin-Associated Periodic Syndrome (CAPS) Caused by c.943A>G Variant of NLRP3 Gene: Clinical Case

Cryopyrin-Associated Periodic Syndrome (CAPS) Caused by c.943A>G Variant of NLRP3 Gene: Clinical Case

Background. Cryopyrin-associated periodic syndromes is a group of rare congenital autoinflammatory diseases such as familial cold autoinflammatory syndrome, Muckle-Wells syndrome and chronic infantile neurological cutaneous articular syndrome. These syndromes are considered as clinical variants of o...

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Bibliographic Details
Main Authors: Ivan A. Kriulin, E. I. Alexeeva, Tatyana M. Dvoryakovskaya, Bella I. Bursagova, Kirill V. Savostyanov, Natalya V. Zhurkova, Alexander A. Pushkov, Anatoli V. Anikin, Artem M. Nesterov
Format: Article
Language:English
Published: "Paediatrician" Publishers LLC 2019-11-01
Series:Вопросы современной педиатрии
Subjects:
children
autoinflammatory syndromes
cryopyrin-associated periodic syndrome
tnfrsf1a gene
nlrp3 gene
il-1 beta inhibitor canakinumab
Online Access:https://vsp.spr-journal.ru/jour/article/view/2202
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