STAT1 Mutations in Chronic Mucocutaneous Candidiasis Diagnosed in an Adult
A 30-year-old man presented with oral candidiasis and a history of lung abscess. He experienced recurring oral and skin candidiasis in childhood but spent long periods without any infections. Therefore, immunodeficiency was suspected. T and B lymphocyte and natural killer cell counts as well as immu...
Gespeichert in:
| Veröffentlicht in: | Internal Medicine 2024/05/01, Vol.63(9), pp.1269-1271 |
|---|---|
| Hauptverfasser: | , , , , , , , |
| Format: | Artikel |
| Sprache: | eng |
| Schlagworte: | |
| Online-Zugang: | Volltext |
| Tags: |
Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
|
| container_end_page | 1271 |
|---|---|
| container_issue | 9 |
| container_start_page | 1269 |
| container_title | Internal Medicine |
| container_volume | 63 |
| creator | Andou, Miya Tominaga, Masaki Nishikomori, Ryuta Gotoh, Kenji Komatsu, Nobukazu Matsuoka, Masanobu Kawayama, Tomotaka Hoshino, Tomoaki |
| description | A 30-year-old man presented with oral candidiasis and a history of lung abscess. He experienced recurring oral and skin candidiasis in childhood but spent long periods without any infections. Therefore, immunodeficiency was suspected. T and B lymphocyte and natural killer cell counts as well as immunoglobulin levels were normal. Human immunodeficiency virus test results were negative. Therefore, we suspected chronic mucocutaneous candidiasis (CMC). The signal transducer and activator of transcription (STAT) mutation, the leading cause of CMC, was detected by exome sequencing. Most cases of STAT1 mutations are diagnosed in childhood, but a few are diagnosed in adulthood because Candida infections may not be severe. |
| doi_str_mv | 10.2169/internalmedicine.2350-23 |
| format | Article |
| fullrecord | <record><control><sourceid>proquest_pubme</sourceid><recordid>TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_11116016</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>3054699414</sourcerecordid><originalsourceid>FETCH-LOGICAL-c643t-cafb99240a92f15d96ba57d5e893b71740de6cf0628178380e1b56eb73548e683</originalsourceid><addsrcrecordid>eNplkU2P0zAQhi0EYsvCX0CRuHDJ4o_464Sq8q0FDpSz5TiT1lVqL7aDxL_HUUsFiw9j2fPMa8-8CDUE31Ai9CsfCqRgpyMM3vkAN5Rx3FL2AK0I63Qr6_khWmFNVEtruEJPcj5gzJTU9DG6YlJKjYVcoU_ftustaT7PxRYfQ258aDb7FIN39dJFVxMB4pybjQ2DH7zNPjdvvN2FmGFYcBua9TBP5Sl6NNopw7Pzfo2-v3u73Xxob7--_7hZ37ZOdKy0zo691rTDVtOR8EGL3nI5cFCa9ZLIDg8g3IgFVUQqpjCQngvoJeOdAqHYNXp90r2b-zoAB6EkO5m75I82_TLRevNvJvi92cWfhtQlMBFV4eVZIcUfM-Rijj47mKZTq4YqSQTnHcMVfXEPPcR5GX02DPNOaN2RrlLqRLkUc04wXn5DsFkcM_cdM4tjNdTS5393cyn8Y1EFvpyAQy52BxfApuLdBP8rC2b0Es4vXEC3t8lAYL8BdFyzxw</addsrcrecordid><sourcetype>Open Access Repository</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>3054699414</pqid></control><display><type>article</type><title>STAT1 Mutations in Chronic Mucocutaneous Candidiasis Diagnosed in an Adult</title><source>J-STAGE Free</source><source>MEDLINE</source><source>PubMed Central</source><source>PubMed Central Open Access</source><creator>Andou, Miya ; Tominaga, Masaki ; Nishikomori, Ryuta ; Gotoh, Kenji ; Komatsu, Nobukazu ; Matsuoka, Masanobu ; Kawayama, Tomotaka ; Hoshino, Tomoaki</creator><creatorcontrib>Andou, Miya ; Tominaga, Masaki ; Nishikomori, Ryuta ; Gotoh, Kenji ; Komatsu, Nobukazu ; Matsuoka, Masanobu ; Kawayama, Tomotaka ; Hoshino, Tomoaki</creatorcontrib><description>A 30-year-old man presented with oral candidiasis and a history of lung abscess. He experienced recurring oral and skin candidiasis in childhood but spent long periods without any infections. Therefore, immunodeficiency was suspected. T and B lymphocyte and natural killer cell counts as well as immunoglobulin levels were normal. Human immunodeficiency virus test results were negative. Therefore, we suspected chronic mucocutaneous candidiasis (CMC). The signal transducer and activator of transcription (STAT) mutation, the leading cause of CMC, was detected by exome sequencing. Most cases of STAT1 mutations are diagnosed in childhood, but a few are diagnosed in adulthood because Candida infections may not be severe.</description><identifier>ISSN: 0918-2918</identifier><identifier>EISSN: 1349-7235</identifier><identifier>DOI: 10.2169/internalmedicine.2350-23</identifier><identifier>PMID: 37779067</identifier><language>eng</language><publisher>Japan: The Japanese Society of Internal Medicine</publisher><subject>Adult ; Candidiasis ; Candidiasis, Chronic Mucocutaneous - diagnosis ; Candidiasis, Chronic Mucocutaneous - genetics ; Case Report ; Children ; Chronic mucocutaneous candidiasis ; Exome Sequencing ; HIV ; Human immunodeficiency virus ; Humans ; Lymphocytes B ; Male ; Mutation ; Natural killer cells ; signal transducer and activator of transcription 1 (STAT1) ; STAT-1-GOF ; Stat1 protein ; STAT1 Transcription Factor - genetics ; target exome sequencing</subject><ispartof>Internal Medicine, 2024/05/01, Vol.63(9), pp.1269-1271</ispartof><rights>2024 by The Japanese Society of Internal Medicine</rights><rights>2024. This work is published under https://creativecommons.org/licenses/by-nc-nd/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License.</rights><rights>Copyright © 2024 by The Japanese Society of Internal Medicine</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c643t-cafb99240a92f15d96ba57d5e893b71740de6cf0628178380e1b56eb73548e683</citedby><cites>FETCH-LOGICAL-c643t-cafb99240a92f15d96ba57d5e893b71740de6cf0628178380e1b56eb73548e683</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC11116016/pdf/$$EPDF$$P50$$Gpubmedcentral$$Hfree_for_read</linktopdf><linktohtml>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC11116016/$$EHTML$$P50$$Gpubmedcentral$$Hfree_for_read</linktohtml><link.rule.ids>230,314,723,776,780,881,1877,27903,27904,53769,53771</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/37779067$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Andou, Miya</creatorcontrib><creatorcontrib>Tominaga, Masaki</creatorcontrib><creatorcontrib>Nishikomori, Ryuta</creatorcontrib><creatorcontrib>Gotoh, Kenji</creatorcontrib><creatorcontrib>Komatsu, Nobukazu</creatorcontrib><creatorcontrib>Matsuoka, Masanobu</creatorcontrib><creatorcontrib>Kawayama, Tomotaka</creatorcontrib><creatorcontrib>Hoshino, Tomoaki</creatorcontrib><title>STAT1 Mutations in Chronic Mucocutaneous Candidiasis Diagnosed in an Adult</title><title>Internal Medicine</title><addtitle>Intern. Med.</addtitle><description>A 30-year-old man presented with oral candidiasis and a history of lung abscess. He experienced recurring oral and skin candidiasis in childhood but spent long periods without any infections. Therefore, immunodeficiency was suspected. T and B lymphocyte and natural killer cell counts as well as immunoglobulin levels were normal. Human immunodeficiency virus test results were negative. Therefore, we suspected chronic mucocutaneous candidiasis (CMC). The signal transducer and activator of transcription (STAT) mutation, the leading cause of CMC, was detected by exome sequencing. Most cases of STAT1 mutations are diagnosed in childhood, but a few are diagnosed in adulthood because Candida infections may not be severe.</description><subject>Adult</subject><subject>Candidiasis</subject><subject>Candidiasis, Chronic Mucocutaneous - diagnosis</subject><subject>Candidiasis, Chronic Mucocutaneous - genetics</subject><subject>Case Report</subject><subject>Children</subject><subject>Chronic mucocutaneous candidiasis</subject><subject>Exome Sequencing</subject><subject>HIV</subject><subject>Human immunodeficiency virus</subject><subject>Humans</subject><subject>Lymphocytes B</subject><subject>Male</subject><subject>Mutation</subject><subject>Natural killer cells</subject><subject>signal transducer and activator of transcription 1 (STAT1)</subject><subject>STAT-1-GOF</subject><subject>Stat1 protein</subject><subject>STAT1 Transcription Factor - genetics</subject><subject>target exome sequencing</subject><issn>0918-2918</issn><issn>1349-7235</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2024</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNplkU2P0zAQhi0EYsvCX0CRuHDJ4o_464Sq8q0FDpSz5TiT1lVqL7aDxL_HUUsFiw9j2fPMa8-8CDUE31Ai9CsfCqRgpyMM3vkAN5Rx3FL2AK0I63Qr6_khWmFNVEtruEJPcj5gzJTU9DG6YlJKjYVcoU_ftustaT7PxRYfQ258aDb7FIN39dJFVxMB4pybjQ2DH7zNPjdvvN2FmGFYcBua9TBP5Sl6NNopw7Pzfo2-v3u73Xxob7--_7hZ37ZOdKy0zo691rTDVtOR8EGL3nI5cFCa9ZLIDg8g3IgFVUQqpjCQngvoJeOdAqHYNXp90r2b-zoAB6EkO5m75I82_TLRevNvJvi92cWfhtQlMBFV4eVZIcUfM-Rijj47mKZTq4YqSQTnHcMVfXEPPcR5GX02DPNOaN2RrlLqRLkUc04wXn5DsFkcM_cdM4tjNdTS5393cyn8Y1EFvpyAQy52BxfApuLdBP8rC2b0Es4vXEC3t8lAYL8BdFyzxw</recordid><startdate>20240501</startdate><enddate>20240501</enddate><creator>Andou, Miya</creator><creator>Tominaga, Masaki</creator><creator>Nishikomori, Ryuta</creator><creator>Gotoh, Kenji</creator><creator>Komatsu, Nobukazu</creator><creator>Matsuoka, Masanobu</creator><creator>Kawayama, Tomotaka</creator><creator>Hoshino, Tomoaki</creator><general>The Japanese Society of Internal Medicine</general><general>Japan Science and Technology Agency</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>7T5</scope><scope>7TK</scope><scope>7U9</scope><scope>H94</scope><scope>7X8</scope><scope>5PM</scope></search><sort><creationdate>20240501</creationdate><title>STAT1 Mutations in Chronic Mucocutaneous Candidiasis Diagnosed in an Adult</title><author>Andou, Miya ; Tominaga, Masaki ; Nishikomori, Ryuta ; Gotoh, Kenji ; Komatsu, Nobukazu ; Matsuoka, Masanobu ; Kawayama, Tomotaka ; Hoshino, Tomoaki</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c643t-cafb99240a92f15d96ba57d5e893b71740de6cf0628178380e1b56eb73548e683</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2024</creationdate><topic>Adult</topic><topic>Candidiasis</topic><topic>Candidiasis, Chronic Mucocutaneous - diagnosis</topic><topic>Candidiasis, Chronic Mucocutaneous - genetics</topic><topic>Case Report</topic><topic>Children</topic><topic>Chronic mucocutaneous candidiasis</topic><topic>Exome Sequencing</topic><topic>HIV</topic><topic>Human immunodeficiency virus</topic><topic>Humans</topic><topic>Lymphocytes B</topic><topic>Male</topic><topic>Mutation</topic><topic>Natural killer cells</topic><topic>signal transducer and activator of transcription 1 (STAT1)</topic><topic>STAT-1-GOF</topic><topic>Stat1 protein</topic><topic>STAT1 Transcription Factor - genetics</topic><topic>target exome sequencing</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Andou, Miya</creatorcontrib><creatorcontrib>Tominaga, Masaki</creatorcontrib><creatorcontrib>Nishikomori, Ryuta</creatorcontrib><creatorcontrib>Gotoh, Kenji</creatorcontrib><creatorcontrib>Komatsu, Nobukazu</creatorcontrib><creatorcontrib>Matsuoka, Masanobu</creatorcontrib><creatorcontrib>Kawayama, Tomotaka</creatorcontrib><creatorcontrib>Hoshino, Tomoaki</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>Immunology Abstracts</collection><collection>Neurosciences Abstracts</collection><collection>Virology and AIDS Abstracts</collection><collection>AIDS and Cancer Research Abstracts</collection><collection>MEDLINE - Academic</collection><collection>PubMed Central (Full Participant titles)</collection><jtitle>Internal Medicine</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Andou, Miya</au><au>Tominaga, Masaki</au><au>Nishikomori, Ryuta</au><au>Gotoh, Kenji</au><au>Komatsu, Nobukazu</au><au>Matsuoka, Masanobu</au><au>Kawayama, Tomotaka</au><au>Hoshino, Tomoaki</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>STAT1 Mutations in Chronic Mucocutaneous Candidiasis Diagnosed in an Adult</atitle><jtitle>Internal Medicine</jtitle><addtitle>Intern. Med.</addtitle><date>2024-05-01</date><risdate>2024</risdate><volume>63</volume><issue>9</issue><spage>1269</spage><epage>1271</epage><pages>1269-1271</pages><artnum>2350-23</artnum><issn>0918-2918</issn><eissn>1349-7235</eissn><abstract>A 30-year-old man presented with oral candidiasis and a history of lung abscess. He experienced recurring oral and skin candidiasis in childhood but spent long periods without any infections. Therefore, immunodeficiency was suspected. T and B lymphocyte and natural killer cell counts as well as immunoglobulin levels were normal. Human immunodeficiency virus test results were negative. Therefore, we suspected chronic mucocutaneous candidiasis (CMC). The signal transducer and activator of transcription (STAT) mutation, the leading cause of CMC, was detected by exome sequencing. Most cases of STAT1 mutations are diagnosed in childhood, but a few are diagnosed in adulthood because Candida infections may not be severe.</abstract><cop>Japan</cop><pub>The Japanese Society of Internal Medicine</pub><pmid>37779067</pmid><doi>10.2169/internalmedicine.2350-23</doi><tpages>3</tpages><oa>free_for_read</oa></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 0918-2918 |
| ispartof | Internal Medicine, 2024/05/01, Vol.63(9), pp.1269-1271 |
| issn | 0918-2918 1349-7235 |
| language | eng |
| recordid | cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_11116016 |
| source | J-STAGE Free; MEDLINE; PubMed Central; PubMed Central Open Access |
| subjects | Adult Candidiasis Candidiasis, Chronic Mucocutaneous - diagnosis Candidiasis, Chronic Mucocutaneous - genetics Case Report Children Chronic mucocutaneous candidiasis Exome Sequencing HIV Human immunodeficiency virus Humans Lymphocytes B Male Mutation Natural killer cells signal transducer and activator of transcription 1 (STAT1) STAT-1-GOF Stat1 protein STAT1 Transcription Factor - genetics target exome sequencing |
| title | STAT1 Mutations in Chronic Mucocutaneous Candidiasis Diagnosed in an Adult |
| url | https://sfx.bib-bvb.de/sfx_tum?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2025-01-28T03%3A12%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=STAT1%20Mutations%20in%20Chronic%20Mucocutaneous%20Candidiasis%20Diagnosed%20in%20an%20Adult&rft.jtitle=Internal%20Medicine&rft.au=Andou,%20Miya&rft.date=2024-05-01&rft.volume=63&rft.issue=9&rft.spage=1269&rft.epage=1271&rft.pages=1269-1271&rft.artnum=2350-23&rft.issn=0918-2918&rft.eissn=1349-7235&rft_id=info:doi/10.2169/internalmedicine.2350-23&rft_dat=%3Cproquest_pubme%3E3054699414%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=3054699414&rft_id=info:pmid/37779067&rfr_iscdi=true |