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Low-frequency mosaicism in cryopyrin-associated periodic fever syndrome: mosaicism in systemic autoinflammatory diseases
Abstract Autoinflammatory disease is an ‘inborn error of immunity’, resulting in systemic inflammation. Cryopyrin-associated periodic syndrome (CAPS) is a prototypical autoinflammatory disease caused by gain-of-function mutations in the NLRP3 (NLR family pyrin domain containing 3) gene; these mutati...
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| Published in: | International immunology 2019-09, Vol.31 (10), p.649-655 |
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| container_end_page | 655 |
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| container_title | International immunology |
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| creator | Nishikomori, Ryuta Izawa, Kazushi Kambe, Naotomo Ohara, Osamu Yasumi, Takahiro |
| description | Abstract
Autoinflammatory disease is an ‘inborn error of immunity’, resulting in systemic inflammation. Cryopyrin-associated periodic syndrome (CAPS) is a prototypical autoinflammatory disease caused by gain-of-function mutations in the NLRP3 (NLR family pyrin domain containing 3) gene; these mutations activate the NLRP3 inflammasome, resulting in overproduction of IL-1β. The first case of CAPS caused by somatic NLRP3 mosaicism was reported in 2005 after identification of variant small peaks by Sanger sequencing. An international collaborative study revealed that the majority of mutation-negative CAPS cases are due to low-level NLRP3 mosaicism, suggesting that central nervous system involvement in somatic mosaicism patients is milder than in genotype-matched heterozygous patients. Recent advances in next-generation sequencing have expanded the number of NLRP3 somatic mosaicism cases and identified a new entity called ‘late-onset CAPS with myeloid-specific NLRP3 mosaicism’; however, no mosaic-specific clinical features have been identified/confirmed yet. With respect to NLRP3 mosaicism in CAPS, a prospective longitudinal study on the variant genotype, its allele frequency and its tissue distribution (along with a comprehensive clinical phenotype) would provide better understanding of NLRP3 mosaicism, resulting in more appropriate patient care and genetic counseling.
Mosaicism in CAPS |
| doi_str_mv | 10.1093/intimm/dxz047 |
| format | article |
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Autoinflammatory disease is an ‘inborn error of immunity’, resulting in systemic inflammation. Cryopyrin-associated periodic syndrome (CAPS) is a prototypical autoinflammatory disease caused by gain-of-function mutations in the NLRP3 (NLR family pyrin domain containing 3) gene; these mutations activate the NLRP3 inflammasome, resulting in overproduction of IL-1β. The first case of CAPS caused by somatic NLRP3 mosaicism was reported in 2005 after identification of variant small peaks by Sanger sequencing. An international collaborative study revealed that the majority of mutation-negative CAPS cases are due to low-level NLRP3 mosaicism, suggesting that central nervous system involvement in somatic mosaicism patients is milder than in genotype-matched heterozygous patients. Recent advances in next-generation sequencing have expanded the number of NLRP3 somatic mosaicism cases and identified a new entity called ‘late-onset CAPS with myeloid-specific NLRP3 mosaicism’; however, no mosaic-specific clinical features have been identified/confirmed yet. With respect to NLRP3 mosaicism in CAPS, a prospective longitudinal study on the variant genotype, its allele frequency and its tissue distribution (along with a comprehensive clinical phenotype) would provide better understanding of NLRP3 mosaicism, resulting in more appropriate patient care and genetic counseling.
Mosaicism in CAPS</description><identifier>ISSN: 1460-2377</identifier><identifier>EISSN: 1460-2377</identifier><identifier>DOI: 10.1093/intimm/dxz047</identifier><identifier>PMID: 31185077</identifier><language>eng</language><publisher>UK: Oxford University Press</publisher><subject>Cryopyrin-Associated Periodic Syndromes - genetics ; Cryopyrin-Associated Periodic Syndromes - immunology ; Humans ; Inflammasomes - genetics ; Inflammasomes - immunology ; Mosaicism ; NLR Family, Pyrin Domain-Containing 3 Protein - genetics ; NLR Family, Pyrin Domain-Containing 3 Protein - immunology</subject><ispartof>International immunology, 2019-09, Vol.31 (10), p.649-655</ispartof><rights>The Japanese Society for Immunology. 2019. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com 2019</rights><rights>The Japanese Society for Immunology. 2019. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c455t-3a04d63192a935f9d5b1d08e0d0b5ef4a63f83e1dd547a2501bc11bb55c9674d3</citedby><cites>FETCH-LOGICAL-c455t-3a04d63192a935f9d5b1d08e0d0b5ef4a63f83e1dd547a2501bc11bb55c9674d3</cites><orcidid>0000-0002-9407-6158</orcidid></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,780,784,27924,27925</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/31185077$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Nishikomori, Ryuta</creatorcontrib><creatorcontrib>Izawa, Kazushi</creatorcontrib><creatorcontrib>Kambe, Naotomo</creatorcontrib><creatorcontrib>Ohara, Osamu</creatorcontrib><creatorcontrib>Yasumi, Takahiro</creatorcontrib><title>Low-frequency mosaicism in cryopyrin-associated periodic fever syndrome: mosaicism in systemic autoinflammatory diseases</title><title>International immunology</title><addtitle>Int Immunol</addtitle><description>Abstract
Autoinflammatory disease is an ‘inborn error of immunity’, resulting in systemic inflammation. Cryopyrin-associated periodic syndrome (CAPS) is a prototypical autoinflammatory disease caused by gain-of-function mutations in the NLRP3 (NLR family pyrin domain containing 3) gene; these mutations activate the NLRP3 inflammasome, resulting in overproduction of IL-1β. The first case of CAPS caused by somatic NLRP3 mosaicism was reported in 2005 after identification of variant small peaks by Sanger sequencing. An international collaborative study revealed that the majority of mutation-negative CAPS cases are due to low-level NLRP3 mosaicism, suggesting that central nervous system involvement in somatic mosaicism patients is milder than in genotype-matched heterozygous patients. Recent advances in next-generation sequencing have expanded the number of NLRP3 somatic mosaicism cases and identified a new entity called ‘late-onset CAPS with myeloid-specific NLRP3 mosaicism’; however, no mosaic-specific clinical features have been identified/confirmed yet. With respect to NLRP3 mosaicism in CAPS, a prospective longitudinal study on the variant genotype, its allele frequency and its tissue distribution (along with a comprehensive clinical phenotype) would provide better understanding of NLRP3 mosaicism, resulting in more appropriate patient care and genetic counseling.
Mosaicism in CAPS</description><subject>Cryopyrin-Associated Periodic Syndromes - genetics</subject><subject>Cryopyrin-Associated Periodic Syndromes - immunology</subject><subject>Humans</subject><subject>Inflammasomes - genetics</subject><subject>Inflammasomes - immunology</subject><subject>Mosaicism</subject><subject>NLR Family, Pyrin Domain-Containing 3 Protein - genetics</subject><subject>NLR Family, Pyrin Domain-Containing 3 Protein - immunology</subject><issn>1460-2377</issn><issn>1460-2377</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2019</creationdate><recordtype>article</recordtype><recordid>eNqFkD1PwzAQhi0EoqUwsqKMLKF2HDcxG6r4kiqxwBw59kUyiuPgS6Dh1xOU8jUx3Q3P-57uIeSU0QtGJV_aprPOLc32nabZHpmzdEXjhGfZ_q99Ro4QnymlPJH8kMw4Y7mgWTYn241_i6sALz00eoicR2W1RRfZJtJh8O0QbBMrRK-t6sBELQTrjdVRBa8QIhwaE7yDy79RHLADN1Kq77xtqlo5pzofhshYBIWAx-SgUjXCyW4uyNPN9eP6Lt483N6vrzaxToXoYq5oalacyURJLippRMkMzYEaWgqoUrXiVc6BGSPSTCWCslIzVpZCaLnKUsMX5HzqbYMfn8SucBY11LVqwPdYJIlMpMx5lo9oPKE6eMQAVdEG61QYCkaLT9nFJLuYZI_82a66Lx2Yb_rL7s9t37f_dH0AmYSOpA</recordid><startdate>20190918</startdate><enddate>20190918</enddate><creator>Nishikomori, Ryuta</creator><creator>Izawa, Kazushi</creator><creator>Kambe, Naotomo</creator><creator>Ohara, Osamu</creator><creator>Yasumi, Takahiro</creator><general>Oxford University Press</general><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7X8</scope><orcidid>https://orcid.org/0000-0002-9407-6158</orcidid></search><sort><creationdate>20190918</creationdate><title>Low-frequency mosaicism in cryopyrin-associated periodic fever syndrome: mosaicism in systemic autoinflammatory diseases</title><author>Nishikomori, Ryuta ; Izawa, Kazushi ; Kambe, Naotomo ; Ohara, Osamu ; Yasumi, Takahiro</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c455t-3a04d63192a935f9d5b1d08e0d0b5ef4a63f83e1dd547a2501bc11bb55c9674d3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2019</creationdate><topic>Cryopyrin-Associated Periodic Syndromes - genetics</topic><topic>Cryopyrin-Associated Periodic Syndromes - immunology</topic><topic>Humans</topic><topic>Inflammasomes - genetics</topic><topic>Inflammasomes - immunology</topic><topic>Mosaicism</topic><topic>NLR Family, Pyrin Domain-Containing 3 Protein - genetics</topic><topic>NLR Family, Pyrin Domain-Containing 3 Protein - immunology</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Nishikomori, Ryuta</creatorcontrib><creatorcontrib>Izawa, Kazushi</creatorcontrib><creatorcontrib>Kambe, Naotomo</creatorcontrib><creatorcontrib>Ohara, Osamu</creatorcontrib><creatorcontrib>Yasumi, Takahiro</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><jtitle>International immunology</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Nishikomori, Ryuta</au><au>Izawa, Kazushi</au><au>Kambe, Naotomo</au><au>Ohara, Osamu</au><au>Yasumi, Takahiro</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Low-frequency mosaicism in cryopyrin-associated periodic fever syndrome: mosaicism in systemic autoinflammatory diseases</atitle><jtitle>International immunology</jtitle><addtitle>Int Immunol</addtitle><date>2019-09-18</date><risdate>2019</risdate><volume>31</volume><issue>10</issue><spage>649</spage><epage>655</epage><pages>649-655</pages><issn>1460-2377</issn><eissn>1460-2377</eissn><abstract>Abstract
Autoinflammatory disease is an ‘inborn error of immunity’, resulting in systemic inflammation. Cryopyrin-associated periodic syndrome (CAPS) is a prototypical autoinflammatory disease caused by gain-of-function mutations in the NLRP3 (NLR family pyrin domain containing 3) gene; these mutations activate the NLRP3 inflammasome, resulting in overproduction of IL-1β. The first case of CAPS caused by somatic NLRP3 mosaicism was reported in 2005 after identification of variant small peaks by Sanger sequencing. An international collaborative study revealed that the majority of mutation-negative CAPS cases are due to low-level NLRP3 mosaicism, suggesting that central nervous system involvement in somatic mosaicism patients is milder than in genotype-matched heterozygous patients. Recent advances in next-generation sequencing have expanded the number of NLRP3 somatic mosaicism cases and identified a new entity called ‘late-onset CAPS with myeloid-specific NLRP3 mosaicism’; however, no mosaic-specific clinical features have been identified/confirmed yet. With respect to NLRP3 mosaicism in CAPS, a prospective longitudinal study on the variant genotype, its allele frequency and its tissue distribution (along with a comprehensive clinical phenotype) would provide better understanding of NLRP3 mosaicism, resulting in more appropriate patient care and genetic counseling.
Mosaicism in CAPS</abstract><cop>UK</cop><pub>Oxford University Press</pub><pmid>31185077</pmid><doi>10.1093/intimm/dxz047</doi><tpages>7</tpages><orcidid>https://orcid.org/0000-0002-9407-6158</orcidid><oa>free_for_read</oa></addata></record> |
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| subjects | Cryopyrin-Associated Periodic Syndromes - genetics Cryopyrin-Associated Periodic Syndromes - immunology Humans Inflammasomes - genetics Inflammasomes - immunology Mosaicism NLR Family, Pyrin Domain-Containing 3 Protein - genetics NLR Family, Pyrin Domain-Containing 3 Protein - immunology |
| title | Low-frequency mosaicism in cryopyrin-associated periodic fever syndrome: mosaicism in systemic autoinflammatory diseases |
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