A familial case of Muckle-Wells syndrome in a Russian population: The first successes of therapy with the interleukin 1 inhibitor canakinumab
Muckle-Wells syndrome (MWS) is an autoinflammatory disease belonging to a group of cryopyrin-associated periodic syndromes (CAPS). It is considered to be one of the intermediately severe conditions among CAPSs and to be intermediate between the severest syndrome – Chronic I nfantile Onset Neurologic...
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IMA-PRESS LLC
2015-03-01
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| Series: | Современная ревматология |
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| Online Access: | https://mrj.ima-press.net/mrj/article/view/601 |
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| author | S. O. Salugina E. S. Fedorov E. Yu. Zakharova M. D. Evsikova |
| author_facet | S. O. Salugina E. S. Fedorov E. Yu. Zakharova M. D. Evsikova |
| author_sort | S. O. Salugina |
| collection | DOAJ |
| description | Muckle-Wells syndrome (MWS) is an autoinflammatory disease belonging to a group of cryopyrin-associated periodic syndromes (CAPS). It is considered to be one of the intermediately severe conditions among CAPSs and to be intermediate between the severest syndrome – Chronic I nfantile Onset Neurologic Cutneous Articular/Neonatal Onset Multisystem Inflammatory Disease (CINCA/NOMID) and the mildest syndrome–Familial Cold Autoinflammatory Syndrome (FCAS). MWS, like all cryopyrinopathies, is caused by a mutation in the NLRP3 (CIAS1) gene; it shows an autosomal inheritance pattern. There are reports on familial MWS cases in the foreign literature; such examples are sporadic in Russia. The given clinical observation clearly demonstrates a genetically verified familial case of MWS in a mother and her daughter in a Russian population and shows how long (occasionally during tens of years or more) the complete complex of the disease may be formed. The results of treatment with the interleukin-1 inhibitor canakinumab in both patients are also given. The high good tolerability and high efficacy of the drug against the clinical manifestations of MWS and acute-phase markers are shown. |
| format | Article |
| id | doaj-art-58f30c20ba654c7d8c5d1b04e0fadea3 |
| institution | Matheson Library |
| issn | 1996-7012 2310-158X |
| language | Russian |
| publishDate | 2015-03-01 |
| publisher | IMA-PRESS LLC |
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| series | Современная ревматология |
| spelling | doaj-art-58f30c20ba654c7d8c5d1b04e0fadea32025-08-04T14:00:33ZrusIMA-PRESS LLCСовременная ревматология1996-70122310-158X2015-03-0191667110.14412/1996-7012-2015-1-66-711899A familial case of Muckle-Wells syndrome in a Russian population: The first successes of therapy with the interleukin 1 inhibitor canakinumabS. O. Salugina0E. S. Fedorov1E. Yu. Zakharova2M. D. Evsikova3V.A. Nasonova Research Institute of RheumatologyV.A. Nasonova Research Institute of RheumatologyResearch Center of Medical GeneticsV.A. Nasonova Research Institute of RheumatologyMuckle-Wells syndrome (MWS) is an autoinflammatory disease belonging to a group of cryopyrin-associated periodic syndromes (CAPS). It is considered to be one of the intermediately severe conditions among CAPSs and to be intermediate between the severest syndrome – Chronic I nfantile Onset Neurologic Cutneous Articular/Neonatal Onset Multisystem Inflammatory Disease (CINCA/NOMID) and the mildest syndrome–Familial Cold Autoinflammatory Syndrome (FCAS). MWS, like all cryopyrinopathies, is caused by a mutation in the NLRP3 (CIAS1) gene; it shows an autosomal inheritance pattern. There are reports on familial MWS cases in the foreign literature; such examples are sporadic in Russia. The given clinical observation clearly demonstrates a genetically verified familial case of MWS in a mother and her daughter in a Russian population and shows how long (occasionally during tens of years or more) the complete complex of the disease may be formed. The results of treatment with the interleukin-1 inhibitor canakinumab in both patients are also given. The high good tolerability and high efficacy of the drug against the clinical manifestations of MWS and acute-phase markers are shown.https://mrj.ima-press.net/mrj/article/view/601autoinflammatory diseasescryopyrin-associated periodic syndromemuckle-wells syndromefamilial caseinterleukin-1 inhibitorscanakinumabtreatment |
| spellingShingle | S. O. Salugina E. S. Fedorov E. Yu. Zakharova M. D. Evsikova A familial case of Muckle-Wells syndrome in a Russian population: The first successes of therapy with the interleukin 1 inhibitor canakinumab Современная ревматология autoinflammatory diseases cryopyrin-associated periodic syndrome muckle-wells syndrome familial case interleukin-1 inhibitors canakinumab treatment |
| title | A familial case of Muckle-Wells syndrome in a Russian population: The first successes of therapy with the interleukin 1 inhibitor canakinumab |
| title_full | A familial case of Muckle-Wells syndrome in a Russian population: The first successes of therapy with the interleukin 1 inhibitor canakinumab |
| title_fullStr | A familial case of Muckle-Wells syndrome in a Russian population: The first successes of therapy with the interleukin 1 inhibitor canakinumab |
| title_full_unstemmed | A familial case of Muckle-Wells syndrome in a Russian population: The first successes of therapy with the interleukin 1 inhibitor canakinumab |
| title_short | A familial case of Muckle-Wells syndrome in a Russian population: The first successes of therapy with the interleukin 1 inhibitor canakinumab |
| title_sort | familial case of muckle wells syndrome in a russian population the first successes of therapy with the interleukin 1 inhibitor canakinumab |
| topic | autoinflammatory diseases cryopyrin-associated periodic syndrome muckle-wells syndrome familial case interleukin-1 inhibitors canakinumab treatment |
| url | https://mrj.ima-press.net/mrj/article/view/601 |
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