<?xml version="1.0" encoding="UTF-8"?>
<!DOCTYPE article PUBLIC "-//NLM//DTD JATS (Z39.96) Journal Publishing DTD v1.3 20210610//EN" "JATS-journalpublishing1-3.dtd">
<article article-type="research-article" dtd-version="1.3" xmlns:mml="http://www.w3.org/1998/Math/MathML" xmlns:xlink="http://www.w3.org/1999/xlink" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" xml:lang="ru"><front><journal-meta><journal-id journal-id-type="publisher-id">mrj</journal-id><journal-title-group><journal-title xml:lang="ru">Современная ревматология</journal-title><trans-title-group xml:lang="en"><trans-title>Modern Rheumatology Journal</trans-title></trans-title-group></journal-title-group><issn pub-type="ppub">1996-7012</issn><issn pub-type="epub">2310-158X</issn><publisher><publisher-name>IMA-PRESS, LLC</publisher-name></publisher></journal-meta><article-meta><article-id pub-id-type="doi">10.14412/1996-7012-2017-2-41-46</article-id><article-id custom-type="elpub" pub-id-type="custom">mrj-753</article-id><article-categories><subj-group subj-group-type="heading"><subject>Research Article</subject></subj-group><subj-group subj-group-type="section-heading" xml:lang="ru"><subject>КЛИНИЧЕСКИЕ НАБЛЮДЕНИЯ</subject></subj-group><subj-group subj-group-type="section-heading" xml:lang="en"><subject>CLINICAL OBSERVATIONS</subject></subj-group></article-categories><title-group><article-title>NLRP12 -ассоциированный периодический синдром: описание собственного наблюдения и анализ данных литературы</article-title><trans-title-group xml:lang="en"><trans-title>NLRP12-associated periodic syndrome: A description of the authors' own observation and an analysis of literature data</trans-title></trans-title-group></title-group><contrib-group><contrib contrib-type="author" corresp="yes"><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Дубко</surname><given-names>М. Ф.</given-names></name><name name-style="western" xml:lang="en"><surname>Dubko</surname><given-names>M. F.</given-names></name></name-alternatives><email xlink:type="simple">kost-mikhail@yandex.ru</email><xref ref-type="aff" rid="aff-1"/></contrib><contrib contrib-type="author" corresp="yes"><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Суспицын</surname><given-names>Е. Н.</given-names></name><name name-style="western" xml:lang="en"><surname>Suspitsyn</surname><given-names>E. N.</given-names></name></name-alternatives><email xlink:type="simple">kost-mikhail@yandex.ru</email><xref ref-type="aff" rid="aff-2"/></contrib><contrib contrib-type="author" corresp="yes"><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Соколенко</surname><given-names>А. П.</given-names></name><name name-style="western" xml:lang="en"><surname>Sokolenko</surname><given-names>A. P.</given-names></name></name-alternatives><email xlink:type="simple">kost-mikhail@yandex.ru</email><xref ref-type="aff" rid="aff-2"/></contrib><contrib contrib-type="author" corresp="yes"><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Имянитов</surname><given-names>Е. Н.</given-names></name><name name-style="western" xml:lang="en"><surname>Imyanitov</surname><given-names>E. N.</given-names></name></name-alternatives><email xlink:type="simple">kost-mikhail@yandex.ru</email><xref ref-type="aff" rid="aff-3"/></contrib><contrib contrib-type="author" corresp="yes"><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Лихачева</surname><given-names>Т. С.</given-names></name><name name-style="western" xml:lang="en"><surname>Likhacheva</surname><given-names>T. S.</given-names></name></name-alternatives><email xlink:type="simple">kost-mikhail@yandex.ru</email><xref ref-type="aff" rid="aff-1"/></contrib><contrib contrib-type="author" corresp="yes"><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Казанцева</surname><given-names>А. Ю.</given-names></name><name name-style="western" xml:lang="en"><surname>Kazantseva</surname><given-names>A. Yu.</given-names></name></name-alternatives><email xlink:type="simple">kost-mikhail@yandex.ru</email><xref ref-type="aff" rid="aff-1"/></contrib><contrib contrib-type="author" corresp="yes"><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Калашникова</surname><given-names>О. В.</given-names></name><name name-style="western" xml:lang="en"><surname>Kalashnikova</surname><given-names>O. V.</given-names></name></name-alternatives><email xlink:type="simple">kost-mikhail@yandex.ru</email><xref ref-type="aff" rid="aff-1"/></contrib><contrib contrib-type="author" corresp="yes"><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Часнык</surname><given-names>В. Г.</given-names></name><name name-style="western" xml:lang="en"><surname>Chasnyk</surname><given-names>V. G.</given-names></name></name-alternatives><email xlink:type="simple">kost-mikhail@yandex.ru</email><xref ref-type="aff" rid="aff-1"/></contrib><contrib contrib-type="author" corresp="yes"><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Костик</surname><given-names>М. М.</given-names></name><name name-style="western" xml:lang="en"><surname>Kostik</surname><given-names>M. M.</given-names></name></name-alternatives><email xlink:type="simple">kost-mikhail@yandex.ru</email><xref ref-type="aff" rid="aff-1"/></contrib></contrib-group><aff-alternatives id="aff-1"><aff xml:lang="ru"><institution>ФГБОУ ВО «Санкт-Петербургский государственный педиатрический медицинский университет» Минздрава России, Санкт-Петербург</institution><country>Россия</country></aff><aff xml:lang="en"><institution>Saint Petersburg State Pediatric Medical University, Ministry of Health of Russia, Saint Petersburg</institution><country>Russian Federation</country></aff></aff-alternatives><aff-alternatives id="aff-2"><aff xml:lang="ru"><institution>ФГБОУ ВО «Санкт-Петербургский государственный педиатрический медицинский университет» Минздрава России, Санкт-Петербург&#13;
ФГБУ «Научно-исследовательский институт онкологии им. Н.Н. Петрова» Минздрава России, Санкт-Петербург</institution><country>Россия</country></aff><aff xml:lang="en"><institution>Saint Petersburg State Pediatric Medical University, Ministry of Health of Russia, Saint Petersburg&#13;
N.N. Petrov Research Institute of Oncology, Ministry of Health of Russia, Saint Petersburg</institution><country>Russian Federation</country></aff></aff-alternatives><aff-alternatives id="aff-3"><aff xml:lang="ru"><institution>ФГБОУ ВО «Санкт-Петербургский государственный педиатрический медицинский университет» Минздрава России, Санкт-Петербург&#13;
ФГБУ «Научно-исследовательский институт онкологии им. Н.Н. Петрова» Минздрава России, Санкт-Петербург&#13;
ФГБОУ ВО «Северо-Западный государственный медицинский университет им. И.И. Мечникова» Минздрава России, Санкт-Петербург</institution><country>Россия</country></aff><aff xml:lang="en"><institution>Saint Petersburg State Pediatric Medical University, Ministry of Health of Russia, Saint Petersburg&#13;
N.N. Petrov Research Institute of Oncology, Ministry of Health of Russia, Saint Petersburg&#13;
I.I. Mechnikov North-Western State Medical University, Ministry of Health of Russia, Saint Petersburg</institution><country>Russian Federation</country></aff></aff-alternatives><pub-date pub-type="collection"><year>2017</year></pub-date><pub-date pub-type="epub"><day>24</day><month>04</month><year>2017</year></pub-date><volume>11</volume><issue>2</issue><fpage>41</fpage><lpage>46</lpage><permissions><copyright-statement>Copyright &amp;#x00A9; Дубко М.Ф., Суспицын Е.Н., Соколенко А.П., Имянитов Е.Н., Лихачева Т.С., Казанцева А.Ю., Калашникова О.В., Часнык В.Г., Костик М.М., 2017</copyright-statement><copyright-year>2017</copyright-year><copyright-holder xml:lang="ru">Дубко М.Ф., Суспицын Е.Н., Соколенко А.П., Имянитов Е.Н., Лихачева Т.С., Казанцева А.Ю., Калашникова О.В., Часнык В.Г., Костик М.М.</copyright-holder><copyright-holder xml:lang="en">Dubko M.F., Suspitsyn E.N., Sokolenko A.P., Imyanitov E.N., Likhacheva T.S., Kazantseva A.Y., Kalashnikova O.V., Chasnyk V.G., Kostik M.M.</copyright-holder><license xml:lang="ru" license-type="creative-commons-attribution" xlink:href="https://creativecommons.org/licenses/by/4.0/" xlink:type="simple"><license-p>Данная работа распространяется под лицензией Creative Commons Attribution 4.0.</license-p></license><license xml:lang="en" license-type="creative-commons-attribution" xlink:href="https://creativecommons.org/licenses/by/4.0/" xlink:type="simple"><license-p>This work is licensed under a Creative Commons Attribution 4.0 License.</license-p></license></permissions><self-uri xlink:href="https://mrj.ima-press.net/mrj/article/view/753">https://mrj.ima-press.net/mrj/article/view/753</self-uri><abstract><p>Аутовоспалительные заболевания (АВЗ) – это группа редких заболеваний, характеризующихся персистирующим или возвратным воспалением, обусловленным гиперактивацией медиаторов и клеток врожденного иммунитета (нейтрофилов, моноцитов/макрофагов). В статье приводятся описание собственного наблюдения NLRP12-ассоциированного АВЗ, эффективности терапии канакинумабом, а также обзор серии случаев аналогичного заболевания, представленных в литературе.</p><p> </p></abstract><trans-abstract xml:lang="en"><p>Autoinflammatory diseases (AIDs) are a group of rare disorders characterized by persistent or recurrent inflammation caused by the hyperactivation of mediators and innate immune cells (neutrophils, monocytes/macrophages). The paper describes the authors' own case of NLRP12-associated AIDs and the efficiency of canakinumab therapy and reviews a series of cases of the similar disease, which are given in the literature.</p><p> </p></trans-abstract><kwd-group xml:lang="ru"><kwd>аутовоспаление</kwd><kwd>NLRP12</kwd><kwd>инфламмасома</kwd></kwd-group><kwd-group xml:lang="en"><kwd>autoinflammation</kwd><kwd>NLRP12</kwd><kwd>inflammasome</kwd></kwd-group></article-meta></front><back><ref-list><title>References</title><ref id="cit1"><label>1</label><citation-alternatives><mixed-citation xml:lang="ru">McDermott MF, Aksentijevich I, Galon J, et al. Germline mutations in the extracellular domains of the 55 kDa TNF receptor, TNFR1, define a family of dominantly inherited autoinflammatory syndromes. Cell. 1999 Apr 2;97(1):133-44.</mixed-citation><mixed-citation xml:lang="en">McDermott MF, Aksentijevich I, Galon J, et al. Germline mutations in the extracellular domains of the 55 kDa TNF receptor, TNFR1, define a family of dominantly inherited autoinflammatory syndromes. Cell. 1999 Apr 2;97(1):133-44.</mixed-citation></citation-alternatives></ref><ref id="cit2"><label>2</label><citation-alternatives><mixed-citation xml:lang="ru">Gattorno M, Martini A. Beyond the NLRP3 inflammasome: autoinflammatory diseases reach adolescence. Arthritis Rheum. 2013 May;65(5):1137-47. doi: 10.1002/ art.37882.</mixed-citation><mixed-citation xml:lang="en">Gattorno M, Martini A. Beyond the NLRP3 inflammasome: autoinflammatory diseases reach adolescence. Arthritis Rheum. 2013 May;65(5):1137-47. doi: 10.1002/ art.37882.</mixed-citation></citation-alternatives></ref><ref id="cit3"><label>3</label><citation-alternatives><mixed-citation xml:lang="ru">Motta V, Soares F, Sun T, et al. NOD-like receptors: versatile cytosolic sentinels. Physiol Rev. 2015 Jan;95(1):149-78. doi: 10.1152/ physrev.00009.2014.</mixed-citation><mixed-citation xml:lang="en">Motta V, Soares F, Sun T, et al. NOD-like receptors: versatile cytosolic sentinels. Physiol Rev. 2015 Jan;95(1):149-78. doi: 10.1152/ physrev.00009.2014.</mixed-citation></citation-alternatives></ref><ref id="cit4"><label>4</label><citation-alternatives><mixed-citation xml:lang="ru">Dinarello CA, Ikejima T, Warner SJ, et al. Interleukin 1 induces interleukin 1. I. Induction of circulating interleukin 1 in rabbits in vivo and in human mononuclear cells in vitro. J Immunol. 1987 Sep 15;139(6): 1902-10.</mixed-citation><mixed-citation xml:lang="en">Dinarello CA, Ikejima T, Warner SJ, et al. Interleukin 1 induces interleukin 1. I. Induction of circulating interleukin 1 in rabbits in vivo and in human mononuclear cells in vitro. J Immunol. 1987 Sep 15;139(6): 1902-10.</mixed-citation></citation-alternatives></ref><ref id="cit5"><label>5</label><citation-alternatives><mixed-citation xml:lang="ru">Ozkurede VU, Franchi L. Immunology in clinic review series; focus on autoinflammatory diseases: role of inflammasomes in autoinflammatory syndromes. Clin Exp Immunol. 2012 Mar;167(3):382-90. doi: 10.1111/j.1365-2249.2011.04535.x.</mixed-citation><mixed-citation xml:lang="en">Ozkurede VU, Franchi L. Immunology in clinic review series; focus on autoinflammatory diseases: role of inflammasomes in autoinflammatory syndromes. Clin Exp Immunol. 2012 Mar;167(3):382-90. doi: 10.1111/j.1365-2249.2011.04535.x.</mixed-citation></citation-alternatives></ref><ref id="cit6"><label>6</label><citation-alternatives><mixed-citation xml:lang="ru">Dinarello CA. Anti-inflammatory agents: present and future. Cell. 2010 Mar 19;140(6): 935-50. doi: 10.1016/j.cell.2010.02.043.</mixed-citation><mixed-citation xml:lang="en">Dinarello CA. Anti-inflammatory agents: present and future. Cell. 2010 Mar 19;140(6): 935-50. doi: 10.1016/j.cell.2010.02.043.</mixed-citation></citation-alternatives></ref><ref id="cit7"><label>7</label><citation-alternatives><mixed-citation xml:lang="ru">Dinarello CA. A clinical perspective of IL-1β as the gatekeeper of inflammation. Eur J Immunol. 2011 May;41(5):1203-17. doi: 10.1002/eji.201141550.</mixed-citation><mixed-citation xml:lang="en">Dinarello CA. A clinical perspective of IL-1β as the gatekeeper of inflammation. Eur J Immunol. 2011 May;41(5):1203-17. doi: 10.1002/eji.201141550.</mixed-citation></citation-alternatives></ref><ref id="cit8"><label>8</label><citation-alternatives><mixed-citation xml:lang="ru">Aksentijevich I, Nowak M, Mallah M, et al. De novo CIAS1 mutations, cytokine activation, and evidence for genetic heterogeneity in patients with neonatal-onset multisystem inflammatory disease (NOMID): a new member of the expanding family of pyrin-associated autoinflammatory diseases. Arthritis Rheum. 2002 Dec;46(12):3340-8.</mixed-citation><mixed-citation xml:lang="en">Aksentijevich I, Nowak M, Mallah M, et al. De novo CIAS1 mutations, cytokine activation, and evidence for genetic heterogeneity in patients with neonatal-onset multisystem inflammatory disease (NOMID): a new member of the expanding family of pyrin-associated autoinflammatory diseases. Arthritis Rheum. 2002 Dec;46(12):3340-8.</mixed-citation></citation-alternatives></ref><ref id="cit9"><label>9</label><citation-alternatives><mixed-citation xml:lang="ru">Hoffman HM, Wanderer AA, Broide DH. Familial cold autoinflammatory syndrome: phenotype and genotype of an autosomal dominant periodic fever. J Allergy Clin Immunol. 2001 Oct;108(4):615-20.</mixed-citation><mixed-citation xml:lang="en">Hoffman HM, Wanderer AA, Broide DH. Familial cold autoinflammatory syndrome: phenotype and genotype of an autosomal dominant periodic fever. J Allergy Clin Immunol. 2001 Oct;108(4):615-20.</mixed-citation></citation-alternatives></ref><ref id="cit10"><label>10</label><citation-alternatives><mixed-citation xml:lang="ru">Agostini L, Martinon F, Burns K, et al. NALP3 forms an IL-1b-processing inflammasome with increased activity in MuckleWells auto-inflammatory disorder. Immunity. 2004 Mar;20(3):319-25.</mixed-citation><mixed-citation xml:lang="en">Agostini L, Martinon F, Burns K, et al. NALP3 forms an IL-1b-processing inflammasome with increased activity in MuckleWells auto-inflammatory disorder. Immunity. 2004 Mar;20(3):319-25.</mixed-citation></citation-alternatives></ref><ref id="cit11"><label>11</label><citation-alternatives><mixed-citation xml:lang="ru">Goldbach-Mansky R. Current status of understanding the pathogenesis and management of patients with NOMID/CINCA. Curr Rheumatol Rep. 2011 Apr;13(2):123-31. doi: 10.1007/s11926-011-0165-y.</mixed-citation><mixed-citation xml:lang="en">Goldbach-Mansky R. Current status of understanding the pathogenesis and management of patients with NOMID/CINCA. Curr Rheumatol Rep. 2011 Apr;13(2):123-31. doi: 10.1007/s11926-011-0165-y.</mixed-citation></citation-alternatives></ref><ref id="cit12"><label>12</label><citation-alternatives><mixed-citation xml:lang="ru">Hawkins PN, Lachmann HJ, Aganna E, et al. Spectrum of clinical features in Muckle-Wells syndrome and response to anakinra. Arthritis Rheum. 2004 Feb; 50(2):607-12.</mixed-citation><mixed-citation xml:lang="en">Hawkins PN, Lachmann HJ, Aganna E, et al. Spectrum of clinical features in Muckle-Wells syndrome and response to anakinra. Arthritis Rheum. 2004 Feb; 50(2):607-12.</mixed-citation></citation-alternatives></ref><ref id="cit13"><label>13</label><citation-alternatives><mixed-citation xml:lang="ru">Prieur AM, Griscelli C. Arthropathy with rash, chronic meningitis, eye lesions, and mental retardation. J Pediatr. 1981 Jul;99(1):79-83.</mixed-citation><mixed-citation xml:lang="en">Prieur AM, Griscelli C. Arthropathy with rash, chronic meningitis, eye lesions, and mental retardation. J Pediatr. 1981 Jul;99(1):79-83.</mixed-citation></citation-alternatives></ref><ref id="cit14"><label>14</label><citation-alternatives><mixed-citation xml:lang="ru">Goldbach-Mansky R, Dailey NJ, Canna SW, et al. Neonatal-onset multisystem inflammatory disease responsive to interleukin-1beta inhibition. N Engl J Med. 2006 Aug 10;355(6):581-92.</mixed-citation><mixed-citation xml:lang="en">Goldbach-Mansky R, Dailey NJ, Canna SW, et al. Neonatal-onset multisystem inflammatory disease responsive to interleukin-1beta inhibition. N Engl J Med. 2006 Aug 10;355(6):581-92.</mixed-citation></citation-alternatives></ref><ref id="cit15"><label>15</label><citation-alternatives><mixed-citation xml:lang="ru">Lepore L, Paloni G, Caorsi R, et al. Follow-up and quality of life of patients with cryoprin-associated periodic syndromes treated with Anakinra. J Pediatr. 2010 Aug;157(2): 310-315.e1. doi: 10.1016/j.jpeds.2010.02.040. Epub 2010 May 15.</mixed-citation><mixed-citation xml:lang="en">Lepore L, Paloni G, Caorsi R, et al. Follow-up and quality of life of patients with cryoprin-associated periodic syndromes treated with Anakinra. J Pediatr. 2010 Aug;157(2): 310-315.e1. doi: 10.1016/j.jpeds.2010.02.040. Epub 2010 May 15.</mixed-citation></citation-alternatives></ref><ref id="cit16"><label>16</label><citation-alternatives><mixed-citation xml:lang="ru">Козлова АЛ, Мамзерова ЕС, Новичкова ГА, Щербина АЮ. Клинические проявления и терапия криоприн-ассоциированных периодических синдромов. Вопросы гематологии/онкологии и иммунопатологии в педиатрии. 2014;13(3):42-8. [Kozlova AL, Mamzerova ES, Novichkova GA, Shcherbina AYu. Clinical manifestations and therapy of cryoprin-associated periodic syndromes. Voprosy gematologii/onkologii i immunopatologii v pediatrii. 2014;13(3):42-8. (In Russ.)].</mixed-citation><mixed-citation xml:lang="en">Козлова АЛ, Мамзерова ЕС, Новичкова ГА, Щербина АЮ. Клинические проявления и терапия криоприн-ассоциированных периодических синдромов. Вопросы гематологии/онкологии и иммунопатологии в педиатрии. 2014;13(3):42-8. [Kozlova AL, Mamzerova ES, Novichkova GA, Shcherbina AYu. Clinical manifestations and therapy of cryoprin-associated periodic syndromes. Voprosy gematologii/onkologii i immunopatologii v pediatrii. 2014;13(3):42-8. (In Russ.)].</mixed-citation></citation-alternatives></ref><ref id="cit17"><label>17</label><citation-alternatives><mixed-citation xml:lang="ru">Kitley JL, Lachmann HJ, Pinto A, et al. Neurologic manifestations of the cryopyrinassociated periodic syndrome. Neurology. 2010 Apr 20;74(16):1267-70. doi: 10.1212/ WNL.0b013e3181d9ed69.</mixed-citation><mixed-citation xml:lang="en">Kitley JL, Lachmann HJ, Pinto A, et al. Neurologic manifestations of the cryopyrinassociated periodic syndrome. Neurology. 2010 Apr 20;74(16):1267-70. doi: 10.1212/ WNL.0b013e3181d9ed69.</mixed-citation></citation-alternatives></ref><ref id="cit18"><label>18</label><citation-alternatives><mixed-citation xml:lang="ru">Milhavet F, Cuisset L, Hoffman HM, et al. The infevers autoinflammatory mutation online registry: update with new genes and functions. Hum Mutat. 2008 Jun;29(6): 803-8. doi: 10.1002/humu.20720.</mixed-citation><mixed-citation xml:lang="en">Milhavet F, Cuisset L, Hoffman HM, et al. The infevers autoinflammatory mutation online registry: update with new genes and functions. Hum Mutat. 2008 Jun;29(6): 803-8. doi: 10.1002/humu.20720.</mixed-citation></citation-alternatives></ref><ref id="cit19"><label>19</label><citation-alternatives><mixed-citation xml:lang="ru">Jesus AA, Silva C, Segundo G, et al. Phenotype-genotype analysis of cryopyrinassociated periodic syndromes (CAPS): description of a rare non-exon 3 and a novel CIAS1 missense mutation. J Clin Immunol. 2008 Mar;28(2):134-8. Epub 2007 Dec 15.</mixed-citation><mixed-citation xml:lang="en">Jesus AA, Silva C, Segundo G, et al. Phenotype-genotype analysis of cryopyrinassociated periodic syndromes (CAPS): description of a rare non-exon 3 and a novel CIAS1 missense mutation. J Clin Immunol. 2008 Mar;28(2):134-8. Epub 2007 Dec 15.</mixed-citation></citation-alternatives></ref><ref id="cit20"><label>20</label><citation-alternatives><mixed-citation xml:lang="ru">Jeru I, Marlin S, Le Borgne G, et al. Functional consequences of a germlinemutation in the leucine-rich repeat domain of NLRP3 identified in an atypical autoinflammatory disorder. Arthritis Rheum. 2010 Apr;62(4):1176-85. doi: 10.1002/art.27326.</mixed-citation><mixed-citation xml:lang="en">Jeru I, Marlin S, Le Borgne G, et al. Functional consequences of a germlinemutation in the leucine-rich repeat domain of NLRP3 identified in an atypical autoinflammatory disorder. Arthritis Rheum. 2010 Apr;62(4):1176-85. doi: 10.1002/art.27326.</mixed-citation></citation-alternatives></ref><ref id="cit21"><label>21</label><citation-alternatives><mixed-citation xml:lang="ru">Кузьмина НН, Салугина СО, Федоров ЕС. Аутовоспалительные заболевания и синдромы у детей. Москва: ИМА-ПРЕСС; 2012. 104 с. [Kuz'mina NN, Salugina SO, Fedorov ES. Autovospalitel'nye zabolevaniya i sindromy u detei [Autoinflammatory diseases and syndromes in children]. Moscow: IMA-PRESS; 2012. 104 p.]</mixed-citation><mixed-citation xml:lang="en">Кузьмина НН, Салугина СО, Федоров ЕС. Аутовоспалительные заболевания и синдромы у детей. Москва: ИМА-ПРЕСС; 2012. 104 с. [Kuz'mina NN, Salugina SO, Fedorov ES. Autovospalitel'nye zabolevaniya i sindromy u detei [Autoinflammatory diseases and syndromes in children]. Moscow: IMA-PRESS; 2012. 104 p.]</mixed-citation></citation-alternatives></ref><ref id="cit22"><label>22</label><citation-alternatives><mixed-citation xml:lang="ru">Tanaka N, Izawa K, Saito MK, et al. High incidence of NLRP3 somatic mosaicism in patients with chronic infantile neurologic, cutaneous, articular syndrome: results of an International Multicenter Collaborative Study. Arthritis Rheum. 2011 Nov;63(11):3625-32. doi: 10.1002/art.30512.</mixed-citation><mixed-citation xml:lang="en">Tanaka N, Izawa K, Saito MK, et al. High incidence of NLRP3 somatic mosaicism in patients with chronic infantile neurologic, cutaneous, articular syndrome: results of an International Multicenter Collaborative Study. Arthritis Rheum. 2011 Nov;63(11):3625-32. doi: 10.1002/art.30512.</mixed-citation></citation-alternatives></ref><ref id="cit23"><label>23</label><citation-alternatives><mixed-citation xml:lang="ru">Jeru I, Duquesnoy P, Fernandes-Alnemri T, et al. Mutations in NALP12 cause hereditary periodic fever syndromes. Proc Natl Acad Sci U S A. 2008 Feb 5;105(5):1614-9. doi: 10.1073/ pnas.0708616105. Epub 2008 Jan 29.</mixed-citation><mixed-citation xml:lang="en">Jeru I, Duquesnoy P, Fernandes-Alnemri T, et al. Mutations in NALP12 cause hereditary periodic fever syndromes. Proc Natl Acad Sci U S A. 2008 Feb 5;105(5):1614-9. doi: 10.1073/ pnas.0708616105. Epub 2008 Jan 29.</mixed-citation></citation-alternatives></ref><ref id="cit24"><label>24</label><citation-alternatives><mixed-citation xml:lang="ru">Borghini S, Tassi S, Chiesa S, et al. Clinical presentation and pathogenesis of cold-induced autoinflammatory disease in a family with recurrence of an NLRP12 mutation. Arthritis Rheum. 2011 Mar;63(3): 830-9. doi: 10.1002/art.30170.</mixed-citation><mixed-citation xml:lang="en">Borghini S, Tassi S, Chiesa S, et al. Clinical presentation and pathogenesis of cold-induced autoinflammatory disease in a family with recurrence of an NLRP12 mutation. Arthritis Rheum. 2011 Mar;63(3): 830-9. doi: 10.1002/art.30170.</mixed-citation></citation-alternatives></ref><ref id="cit25"><label>25</label><citation-alternatives><mixed-citation xml:lang="ru">Xia X , Dai C, Zhu X, et al. Identification of a Novel NLRP12 Nonsense Mutation (Trp408X) in the Extremely Rare Disease FCAS by Exome Sequencing. PLoS One. 2016;11(6):e0156981. doi: 10.1371/journal. pone.0156981. eCollection 2016.</mixed-citation><mixed-citation xml:lang="en">Xia X , Dai C, Zhu X, et al. Identification of a Novel NLRP12 Nonsense Mutation (Trp408X) in the Extremely Rare Disease FCAS by Exome Sequencing. PLoS One. 2016;11(6):e0156981. doi: 10.1371/journal. pone.0156981. eCollection 2016.</mixed-citation></citation-alternatives></ref><ref id="cit26"><label>26</label><citation-alternatives><mixed-citation xml:lang="ru">Kitamura A, Sasaki Y, Abe T, et al. An inherited mutation in NLRC4 causes autoinflammation in human and mice. J Exp Med. 2014 Nov 17;211(12):2385-96. doi: 10.1084/jem.20141091. Epub 2014 Nov 10.</mixed-citation><mixed-citation xml:lang="en">Kitamura A, Sasaki Y, Abe T, et al. An inherited mutation in NLRC4 causes autoinflammation in human and mice. J Exp Med. 2014 Nov 17;211(12):2385-96. doi: 10.1084/jem.20141091. Epub 2014 Nov 10.</mixed-citation></citation-alternatives></ref><ref id="cit27"><label>27</label><citation-alternatives><mixed-citation xml:lang="ru">Tunca M, Ozdogan H. Molecular and genetic characteristics of hereditary autoinflammatory diseases. Curr Drug Targets Inflamm Allergy. 2005 Feb;4(1):77-80.</mixed-citation><mixed-citation xml:lang="en">Tunca M, Ozdogan H. Molecular and genetic characteristics of hereditary autoinflammatory diseases. Curr Drug Targets Inflamm Allergy. 2005 Feb;4(1):77-80.</mixed-citation></citation-alternatives></ref><ref id="cit28"><label>28</label><citation-alternatives><mixed-citation xml:lang="ru">Wang L, Manji GA, Grenier JM, et al. PYPAF7, a novel PYRIN-containing Apaf1- like protein that regulates activation of NF-kappa B and caspase-1-dependent cytokine processing. J Biol Chem. 2002 Aug 16;277(33):29874-80. Epub 2002 May 17.</mixed-citation><mixed-citation xml:lang="en">Wang L, Manji GA, Grenier JM, et al. PYPAF7, a novel PYRIN-containing Apaf1- like protein that regulates activation of NF-kappa B and caspase-1-dependent cytokine processing. J Biol Chem. 2002 Aug 16;277(33):29874-80. Epub 2002 May 17.</mixed-citation></citation-alternatives></ref><ref id="cit29"><label>29</label><citation-alternatives><mixed-citation xml:lang="ru">Williams KL, Lich JD, Duncan JA, et al. The CATERPILLER protein monarch-1 is an antagonist of toll-like receptor-, tumor necrosis factor alpha-, and Mycobacterium tuberculosis-induced pro-inflammatory signals. J Biol Chem. 2005 Dec 2;280(48):399 14-24. Epub 2005 Oct 3.</mixed-citation><mixed-citation xml:lang="en">Williams KL, Lich JD, Duncan JA, et al. The CATERPILLER protein monarch-1 is an antagonist of toll-like receptor-, tumor necrosis factor alpha-, and Mycobacterium tuberculosis-induced pro-inflammatory signals. J Biol Chem. 2005 Dec 2;280(48):399 14-24. Epub 2005 Oct 3.</mixed-citation></citation-alternatives></ref><ref id="cit30"><label>30</label><citation-alternatives><mixed-citation xml:lang="ru">Jеru I, Le Borgne G, Cochet E, et al. Identification and functional consequences of a recurrent NLRP12 missense mutation in periodic fever syndromes. Arthritis Rheum. 2011 May;63(5):1459-64. doi: 10.1002/art. 30241.</mixed-citation><mixed-citation xml:lang="en">Jеru I, Le Borgne G, Cochet E, et al. Identification and functional consequences of a recurrent NLRP12 missense mutation in periodic fever syndromes. Arthritis Rheum. 2011 May;63(5):1459-64. doi: 10.1002/art. 30241.</mixed-citation></citation-alternatives></ref><ref id="cit31"><label>31</label><citation-alternatives><mixed-citation xml:lang="ru">Lich JD, Williams KL, Moore CB, et al. Monarch-1 suppresses non-canonical NF-kappaB activation and p52-dependent chemokine expression in monocytes. J Immunol. 2007 Feb 1;178(3):1256-60.</mixed-citation><mixed-citation xml:lang="en">Lich JD, Williams KL, Moore CB, et al. Monarch-1 suppresses non-canonical NF-kappaB activation and p52-dependent chemokine expression in monocytes. J Immunol. 2007 Feb 1;178(3):1256-60.</mixed-citation></citation-alternatives></ref><ref id="cit32"><label>32</label><citation-alternatives><mixed-citation xml:lang="ru">http://www.fmf.igh.cnrs.fr/ISSAID/infevers/ search.php?n=9</mixed-citation><mixed-citation xml:lang="en">http://www.fmf.igh.cnrs.fr/ISSAID/infevers/ search.php?n=9</mixed-citation></citation-alternatives></ref><ref id="cit33"><label>33</label><citation-alternatives><mixed-citation xml:lang="ru">Shen M, Tang L, Shi X, et al. NLRP12 autoinflammatory disease: a Chinese case series and literature review. Clin Rheumatol. 2016 Sep 16. [Epub ahead of print].</mixed-citation><mixed-citation xml:lang="en">Shen M, Tang L, Shi X, et al. NLRP12 autoinflammatory disease: a Chinese case series and literature review. Clin Rheumatol. 2016 Sep 16. [Epub ahead of print].</mixed-citation></citation-alternatives></ref><ref id="cit34"><label>34</label><citation-alternatives><mixed-citation xml:lang="ru">Rusmini M, Federici S, Caroli F, et al. Next-generation sequencing and its initial applications for molecular diagnosis of systemic auto-inflammatory diseases. Ann Rheum Dis. 2016 Aug;75(8):1550-7. doi: 10.1136/annrheumdis-2015-207701. Epub 2015 Sep 17.</mixed-citation><mixed-citation xml:lang="en">Rusmini M, Federici S, Caroli F, et al. Next-generation sequencing and its initial applications for molecular diagnosis of systemic auto-inflammatory diseases. Ann Rheum Dis. 2016 Aug;75(8):1550-7. doi: 10.1136/annrheumdis-2015-207701. Epub 2015 Sep 17.</mixed-citation></citation-alternatives></ref></ref-list><fn-group><fn fn-type="conflict"><p>The authors declare that there are no conflicts of interest present.</p></fn></fn-group></back></article>
