Early-onset sarcoidosis and CARD15 mutations with constitutive nuclear factor-kappaB activation: common genetic etiology with Blau syndrome
Early-onset sarcoidosis (EOS) and inheritable Blau syndrome (BS) share characteristic clinical features of juvenile-onset systemic granulomatosis syndrome that mainly affects skin, joints, and eyes. However, no direct evidence has been shown for the possible common origin of these 2 diseases. Recent...
Gespeichert in:
| Veröffentlicht in: | Blood 2005-02, Vol.105 (3), p.1195-1197 |
|---|---|
| Hauptverfasser: | , , , , , , , , , , , , , , , , , , |
| Format: | Artikel |
| Sprache: | eng |
| Schlagworte: | |
| Online-Zugang: | Volltext |
| Tags: |
Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
|
| container_end_page | 1197 |
|---|---|
| container_issue | 3 |
| container_start_page | 1195 |
| container_title | Blood |
| container_volume | 105 |
| creator | Kanazawa, Nobuo Okafuji, Ikuo Kambe, Naotomo Nishikomori, Ryuta Nakata-Hizume, Mami Nagai, Sonoko Fuji, Akihiko Yuasa, Takenosuke Manki, Akira Sakurai, Yoshihiko Nakajima, Mitsuru Kobayashi, Hiroko Fujiwara, Ikuma Tsutsumi, Hiroyuki Utani, Atsushi Nishigori, Chikako Heike, Toshio Nakahata, Tatsutoshi Miyachi, Yoshiki |
| description | Early-onset sarcoidosis (EOS) and inheritable Blau syndrome (BS) share characteristic clinical features of juvenile-onset systemic granulomatosis syndrome that mainly affects skin, joints, and eyes. However, no direct evidence has been shown for the possible common origin of these 2 diseases. Recent discovery of CARD15 mutations in BS families encouraged us to investigate similar CARD15 mutations in EOS patients. Among 10 EOS cases retrospectively collected in Japan, heterozygous missense mutations were found in 9 cases; 4 showed a 1000C>T (R334W in amino acid change) that has been reported in BS, 4 showed novel 1487A>T (H496L), 1538T>C (M513T), 1813A>C (T605P), and 2010C>A (N670K), and 1 case showed double 1146C>G (D382E)/1834G>A (A612T) mutations on different alleles. All 6 of these variants of CARD15 showed increased basal nuclear factor (NF)-kappaB activity. These findings indicate that the majority of EOS and BS cases share the common genetic etiology of CARD15 mutations that cause constitutive NF-kappaB activation. |
| format | Article |
| fullrecord | <record><control><sourceid>proquest_pubme</sourceid><recordid>TN_cdi_proquest_miscellaneous_67355717</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>67355717</sourcerecordid><originalsourceid>FETCH-LOGICAL-p543-1a5af683fe52c542626eeaf28924eebe9184df29d594188343bf2dca7327bf93</originalsourceid><addsrcrecordid>eNo1kMtOwzAQRbMA0VL4BeQVu0jxKw92bSkFqRISsI8mzrgYkjjYTlG-gZ8momUzd6505izmLJonSZLGosjoLLr0_iNJqOBMXkQzKoUsEsrn0c8GXDPGtvMYiAenrKmtN55AV5P18uWeStIOAYKZEPJtwjtR0xZMGII5IOkG1SA4okEF6-JP6HtYkamYw9_N3YS3re3IHjsMRpFp2Mbux6Nr1cBA_NjVzrZ4FZ1raDxen3IRvT5s3taP8e55-7Re7uJeCh5TkKDTnGuUTEnBUpYigmZ5wQRihQXNRa1ZUctC0Dznglea1QoyzrJKF3wR3R6tvbNfA_pQtsYrbBro0A6-TDMuZUazCbw5gUPVYl32zrTgxvL_efwXoCNtWQ</addsrcrecordid><sourcetype>Aggregation Database</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>67355717</pqid></control><display><type>article</type><title>Early-onset sarcoidosis and CARD15 mutations with constitutive nuclear factor-kappaB activation: common genetic etiology with Blau syndrome</title><source>MEDLINE</source><source>EZB-FREE-00999 freely available EZB journals</source><source>Alma/SFX Local Collection</source><creator>Kanazawa, Nobuo ; Okafuji, Ikuo ; Kambe, Naotomo ; Nishikomori, Ryuta ; Nakata-Hizume, Mami ; Nagai, Sonoko ; Fuji, Akihiko ; Yuasa, Takenosuke ; Manki, Akira ; Sakurai, Yoshihiko ; Nakajima, Mitsuru ; Kobayashi, Hiroko ; Fujiwara, Ikuma ; Tsutsumi, Hiroyuki ; Utani, Atsushi ; Nishigori, Chikako ; Heike, Toshio ; Nakahata, Tatsutoshi ; Miyachi, Yoshiki</creator><creatorcontrib>Kanazawa, Nobuo ; Okafuji, Ikuo ; Kambe, Naotomo ; Nishikomori, Ryuta ; Nakata-Hizume, Mami ; Nagai, Sonoko ; Fuji, Akihiko ; Yuasa, Takenosuke ; Manki, Akira ; Sakurai, Yoshihiko ; Nakajima, Mitsuru ; Kobayashi, Hiroko ; Fujiwara, Ikuma ; Tsutsumi, Hiroyuki ; Utani, Atsushi ; Nishigori, Chikako ; Heike, Toshio ; Nakahata, Tatsutoshi ; Miyachi, Yoshiki</creatorcontrib><description>Early-onset sarcoidosis (EOS) and inheritable Blau syndrome (BS) share characteristic clinical features of juvenile-onset systemic granulomatosis syndrome that mainly affects skin, joints, and eyes. However, no direct evidence has been shown for the possible common origin of these 2 diseases. Recent discovery of CARD15 mutations in BS families encouraged us to investigate similar CARD15 mutations in EOS patients. Among 10 EOS cases retrospectively collected in Japan, heterozygous missense mutations were found in 9 cases; 4 showed a 1000C>T (R334W in amino acid change) that has been reported in BS, 4 showed novel 1487A>T (H496L), 1538T>C (M513T), 1813A>C (T605P), and 2010C>A (N670K), and 1 case showed double 1146C>G (D382E)/1834G>A (A612T) mutations on different alleles. All 6 of these variants of CARD15 showed increased basal nuclear factor (NF)-kappaB activity. These findings indicate that the majority of EOS and BS cases share the common genetic etiology of CARD15 mutations that cause constitutive NF-kappaB activation.</description><identifier>ISSN: 0006-4971</identifier><identifier>PMID: 15459013</identifier><language>eng</language><publisher>United States</publisher><subject>Age of Onset ; Crohn Disease - genetics ; Exanthema - genetics ; Gene Expression Regulation ; Glaucoma, Angle-Closure - genetics ; Humans ; Intracellular Signaling Peptides and Proteins - genetics ; Mutation ; NF-kappa B - genetics ; NF-kappa B - metabolism ; Nod2 Signaling Adaptor Protein ; Polymorphism, Single Nucleotide - genetics ; Sarcoidosis - genetics ; Syndrome</subject><ispartof>Blood, 2005-02, Vol.105 (3), p.1195-1197</ispartof><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,777,781</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/15459013$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Kanazawa, Nobuo</creatorcontrib><creatorcontrib>Okafuji, Ikuo</creatorcontrib><creatorcontrib>Kambe, Naotomo</creatorcontrib><creatorcontrib>Nishikomori, Ryuta</creatorcontrib><creatorcontrib>Nakata-Hizume, Mami</creatorcontrib><creatorcontrib>Nagai, Sonoko</creatorcontrib><creatorcontrib>Fuji, Akihiko</creatorcontrib><creatorcontrib>Yuasa, Takenosuke</creatorcontrib><creatorcontrib>Manki, Akira</creatorcontrib><creatorcontrib>Sakurai, Yoshihiko</creatorcontrib><creatorcontrib>Nakajima, Mitsuru</creatorcontrib><creatorcontrib>Kobayashi, Hiroko</creatorcontrib><creatorcontrib>Fujiwara, Ikuma</creatorcontrib><creatorcontrib>Tsutsumi, Hiroyuki</creatorcontrib><creatorcontrib>Utani, Atsushi</creatorcontrib><creatorcontrib>Nishigori, Chikako</creatorcontrib><creatorcontrib>Heike, Toshio</creatorcontrib><creatorcontrib>Nakahata, Tatsutoshi</creatorcontrib><creatorcontrib>Miyachi, Yoshiki</creatorcontrib><title>Early-onset sarcoidosis and CARD15 mutations with constitutive nuclear factor-kappaB activation: common genetic etiology with Blau syndrome</title><title>Blood</title><addtitle>Blood</addtitle><description>Early-onset sarcoidosis (EOS) and inheritable Blau syndrome (BS) share characteristic clinical features of juvenile-onset systemic granulomatosis syndrome that mainly affects skin, joints, and eyes. However, no direct evidence has been shown for the possible common origin of these 2 diseases. Recent discovery of CARD15 mutations in BS families encouraged us to investigate similar CARD15 mutations in EOS patients. Among 10 EOS cases retrospectively collected in Japan, heterozygous missense mutations were found in 9 cases; 4 showed a 1000C>T (R334W in amino acid change) that has been reported in BS, 4 showed novel 1487A>T (H496L), 1538T>C (M513T), 1813A>C (T605P), and 2010C>A (N670K), and 1 case showed double 1146C>G (D382E)/1834G>A (A612T) mutations on different alleles. All 6 of these variants of CARD15 showed increased basal nuclear factor (NF)-kappaB activity. These findings indicate that the majority of EOS and BS cases share the common genetic etiology of CARD15 mutations that cause constitutive NF-kappaB activation.</description><subject>Age of Onset</subject><subject>Crohn Disease - genetics</subject><subject>Exanthema - genetics</subject><subject>Gene Expression Regulation</subject><subject>Glaucoma, Angle-Closure - genetics</subject><subject>Humans</subject><subject>Intracellular Signaling Peptides and Proteins - genetics</subject><subject>Mutation</subject><subject>NF-kappa B - genetics</subject><subject>NF-kappa B - metabolism</subject><subject>Nod2 Signaling Adaptor Protein</subject><subject>Polymorphism, Single Nucleotide - genetics</subject><subject>Sarcoidosis - genetics</subject><subject>Syndrome</subject><issn>0006-4971</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2005</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNo1kMtOwzAQRbMA0VL4BeQVu0jxKw92bSkFqRISsI8mzrgYkjjYTlG-gZ8momUzd6505izmLJonSZLGosjoLLr0_iNJqOBMXkQzKoUsEsrn0c8GXDPGtvMYiAenrKmtN55AV5P18uWeStIOAYKZEPJtwjtR0xZMGII5IOkG1SA4okEF6-JP6HtYkamYw9_N3YS3re3IHjsMRpFp2Mbux6Nr1cBA_NjVzrZ4FZ1raDxen3IRvT5s3taP8e55-7Re7uJeCh5TkKDTnGuUTEnBUpYigmZ5wQRihQXNRa1ZUctC0Dznglea1QoyzrJKF3wR3R6tvbNfA_pQtsYrbBro0A6-TDMuZUazCbw5gUPVYl32zrTgxvL_efwXoCNtWQ</recordid><startdate>20050201</startdate><enddate>20050201</enddate><creator>Kanazawa, Nobuo</creator><creator>Okafuji, Ikuo</creator><creator>Kambe, Naotomo</creator><creator>Nishikomori, Ryuta</creator><creator>Nakata-Hizume, Mami</creator><creator>Nagai, Sonoko</creator><creator>Fuji, Akihiko</creator><creator>Yuasa, Takenosuke</creator><creator>Manki, Akira</creator><creator>Sakurai, Yoshihiko</creator><creator>Nakajima, Mitsuru</creator><creator>Kobayashi, Hiroko</creator><creator>Fujiwara, Ikuma</creator><creator>Tsutsumi, Hiroyuki</creator><creator>Utani, Atsushi</creator><creator>Nishigori, Chikako</creator><creator>Heike, Toshio</creator><creator>Nakahata, Tatsutoshi</creator><creator>Miyachi, Yoshiki</creator><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>7X8</scope></search><sort><creationdate>20050201</creationdate><title>Early-onset sarcoidosis and CARD15 mutations with constitutive nuclear factor-kappaB activation: common genetic etiology with Blau syndrome</title><author>Kanazawa, Nobuo ; Okafuji, Ikuo ; Kambe, Naotomo ; Nishikomori, Ryuta ; Nakata-Hizume, Mami ; Nagai, Sonoko ; Fuji, Akihiko ; Yuasa, Takenosuke ; Manki, Akira ; Sakurai, Yoshihiko ; Nakajima, Mitsuru ; Kobayashi, Hiroko ; Fujiwara, Ikuma ; Tsutsumi, Hiroyuki ; Utani, Atsushi ; Nishigori, Chikako ; Heike, Toshio ; Nakahata, Tatsutoshi ; Miyachi, Yoshiki</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-p543-1a5af683fe52c542626eeaf28924eebe9184df29d594188343bf2dca7327bf93</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2005</creationdate><topic>Age of Onset</topic><topic>Crohn Disease - genetics</topic><topic>Exanthema - genetics</topic><topic>Gene Expression Regulation</topic><topic>Glaucoma, Angle-Closure - genetics</topic><topic>Humans</topic><topic>Intracellular Signaling Peptides and Proteins - genetics</topic><topic>Mutation</topic><topic>NF-kappa B - genetics</topic><topic>NF-kappa B - metabolism</topic><topic>Nod2 Signaling Adaptor Protein</topic><topic>Polymorphism, Single Nucleotide - genetics</topic><topic>Sarcoidosis - genetics</topic><topic>Syndrome</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Kanazawa, Nobuo</creatorcontrib><creatorcontrib>Okafuji, Ikuo</creatorcontrib><creatorcontrib>Kambe, Naotomo</creatorcontrib><creatorcontrib>Nishikomori, Ryuta</creatorcontrib><creatorcontrib>Nakata-Hizume, Mami</creatorcontrib><creatorcontrib>Nagai, Sonoko</creatorcontrib><creatorcontrib>Fuji, Akihiko</creatorcontrib><creatorcontrib>Yuasa, Takenosuke</creatorcontrib><creatorcontrib>Manki, Akira</creatorcontrib><creatorcontrib>Sakurai, Yoshihiko</creatorcontrib><creatorcontrib>Nakajima, Mitsuru</creatorcontrib><creatorcontrib>Kobayashi, Hiroko</creatorcontrib><creatorcontrib>Fujiwara, Ikuma</creatorcontrib><creatorcontrib>Tsutsumi, Hiroyuki</creatorcontrib><creatorcontrib>Utani, Atsushi</creatorcontrib><creatorcontrib>Nishigori, Chikako</creatorcontrib><creatorcontrib>Heike, Toshio</creatorcontrib><creatorcontrib>Nakahata, Tatsutoshi</creatorcontrib><creatorcontrib>Miyachi, Yoshiki</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>MEDLINE - Academic</collection><jtitle>Blood</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Kanazawa, Nobuo</au><au>Okafuji, Ikuo</au><au>Kambe, Naotomo</au><au>Nishikomori, Ryuta</au><au>Nakata-Hizume, Mami</au><au>Nagai, Sonoko</au><au>Fuji, Akihiko</au><au>Yuasa, Takenosuke</au><au>Manki, Akira</au><au>Sakurai, Yoshihiko</au><au>Nakajima, Mitsuru</au><au>Kobayashi, Hiroko</au><au>Fujiwara, Ikuma</au><au>Tsutsumi, Hiroyuki</au><au>Utani, Atsushi</au><au>Nishigori, Chikako</au><au>Heike, Toshio</au><au>Nakahata, Tatsutoshi</au><au>Miyachi, Yoshiki</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Early-onset sarcoidosis and CARD15 mutations with constitutive nuclear factor-kappaB activation: common genetic etiology with Blau syndrome</atitle><jtitle>Blood</jtitle><addtitle>Blood</addtitle><date>2005-02-01</date><risdate>2005</risdate><volume>105</volume><issue>3</issue><spage>1195</spage><epage>1197</epage><pages>1195-1197</pages><issn>0006-4971</issn><abstract>Early-onset sarcoidosis (EOS) and inheritable Blau syndrome (BS) share characteristic clinical features of juvenile-onset systemic granulomatosis syndrome that mainly affects skin, joints, and eyes. However, no direct evidence has been shown for the possible common origin of these 2 diseases. Recent discovery of CARD15 mutations in BS families encouraged us to investigate similar CARD15 mutations in EOS patients. Among 10 EOS cases retrospectively collected in Japan, heterozygous missense mutations were found in 9 cases; 4 showed a 1000C>T (R334W in amino acid change) that has been reported in BS, 4 showed novel 1487A>T (H496L), 1538T>C (M513T), 1813A>C (T605P), and 2010C>A (N670K), and 1 case showed double 1146C>G (D382E)/1834G>A (A612T) mutations on different alleles. All 6 of these variants of CARD15 showed increased basal nuclear factor (NF)-kappaB activity. These findings indicate that the majority of EOS and BS cases share the common genetic etiology of CARD15 mutations that cause constitutive NF-kappaB activation.</abstract><cop>United States</cop><pmid>15459013</pmid><tpages>3</tpages></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 0006-4971 |
| ispartof | Blood, 2005-02, Vol.105 (3), p.1195-1197 |
| issn | 0006-4971 |
| language | eng |
| recordid | cdi_proquest_miscellaneous_67355717 |
| source | MEDLINE; EZB-FREE-00999 freely available EZB journals; Alma/SFX Local Collection |
| subjects | Age of Onset Crohn Disease - genetics Exanthema - genetics Gene Expression Regulation Glaucoma, Angle-Closure - genetics Humans Intracellular Signaling Peptides and Proteins - genetics Mutation NF-kappa B - genetics NF-kappa B - metabolism Nod2 Signaling Adaptor Protein Polymorphism, Single Nucleotide - genetics Sarcoidosis - genetics Syndrome |
| title | Early-onset sarcoidosis and CARD15 mutations with constitutive nuclear factor-kappaB activation: common genetic etiology with Blau syndrome |
| url | https://sfx.bib-bvb.de/sfx_tum?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2025-01-17T10%3A59%3A00IST&url_ver=Z39.88-2004&url_ctx_fmt=infofi/fmt:kev:mtx:ctx&rfr_id=info:sid/primo.exlibrisgroup.com:primo3-Article-proquest_pubme&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.genre=article&rft.atitle=Early-onset%20sarcoidosis%20and%20CARD15%20mutations%20with%20constitutive%20nuclear%20factor-kappaB%20activation:%20common%20genetic%20etiology%20with%20Blau%20syndrome&rft.jtitle=Blood&rft.au=Kanazawa,%20Nobuo&rft.date=2005-02-01&rft.volume=105&rft.issue=3&rft.spage=1195&rft.epage=1197&rft.pages=1195-1197&rft.issn=0006-4971&rft_id=info:doi/&rft_dat=%3Cproquest_pubme%3E67355717%3C/proquest_pubme%3E%3Curl%3E%3C/url%3E&disable_directlink=true&sfx.directlink=off&sfx.report_link=0&rft_id=info:oai/&rft_pqid=67355717&rft_id=info:pmid/15459013&rfr_iscdi=true |