Type III bare lymphocyte syndrome associated with a novel RFXAP mutation: a case report
Summary Type III bare lymphocyte syndrome (BLS) is a severe combined immunodeficiency disease caused by the absence of MHC Class II expression associated with low expression of class I molecules. Here, we report a case with type III BLS who lacked RFXAP (Regulatory factor X‐associated protein) expre...
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| Veröffentlicht in: | International journal of immunogenetics 2012-08, Vol.39 (4), p.362-364 |
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| container_end_page | 364 |
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| container_issue | 4 |
| container_start_page | 362 |
| container_title | International journal of immunogenetics |
| container_volume | 39 |
| creator | Gokturk, B. Artac, H. van Eggermond, M. J. van den Elsen, P. Reisli, İ. |
| description | Summary
Type III bare lymphocyte syndrome (BLS) is a severe combined immunodeficiency disease caused by the absence of MHC Class II expression associated with low expression of class I molecules. Here, we report a case with type III BLS who lacked RFXAP (Regulatory factor X‐associated protein) expression as a result from a novel mutation introducing a premature stopcodon in DE‐region at amino acid 73. |
| doi_str_mv | 10.1111/j.1744-313X.2012.01105.x |
| format | Article |
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Type III bare lymphocyte syndrome (BLS) is a severe combined immunodeficiency disease caused by the absence of MHC Class II expression associated with low expression of class I molecules. Here, we report a case with type III BLS who lacked RFXAP (Regulatory factor X‐associated protein) expression as a result from a novel mutation introducing a premature stopcodon in DE‐region at amino acid 73.</description><identifier>ISSN: 1744-3121</identifier><identifier>EISSN: 1744-313X</identifier><identifier>DOI: 10.1111/j.1744-313X.2012.01105.x</identifier><identifier>PMID: 22390233</identifier><language>eng</language><publisher>Oxford, UK: Blackwell Publishing Ltd</publisher><subject>Amino acids ; Case reports ; CD4-Positive T-Lymphocytes - metabolism ; CD8-Positive T-Lymphocytes - metabolism ; Codon, Nonsense - genetics ; Female ; Genetic Association Studies ; Homozygote ; Humans ; Infant ; Lymphocyte Count ; Major histocompatibility complex ; Mutation ; Severe combined immunodeficiency ; Severe Combined Immunodeficiency - genetics ; Severe Combined Immunodeficiency - metabolism ; Transcription Factors - genetics ; Transcription Factors - metabolism</subject><ispartof>International journal of immunogenetics, 2012-08, Vol.39 (4), p.362-364</ispartof><rights>2012 Blackwell Publishing Ltd</rights><rights>2012 Blackwell Publishing Ltd.</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c4405-f80634fbc71818c65ee46e27d6935ceb6ef72b89b215719a5849fd3ccac284023</citedby><cites>FETCH-LOGICAL-c4405-f80634fbc71818c65ee46e27d6935ceb6ef72b89b215719a5849fd3ccac284023</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://onlinelibrary.wiley.com/doi/pdf/10.1111%2Fj.1744-313X.2012.01105.x$$EPDF$$P50$$Gwiley$$H</linktopdf><linktohtml>$$Uhttps://onlinelibrary.wiley.com/doi/full/10.1111%2Fj.1744-313X.2012.01105.x$$EHTML$$P50$$Gwiley$$H</linktohtml><link.rule.ids>314,776,780,1411,27901,27902,45550,45551</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/22390233$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Gokturk, B.</creatorcontrib><creatorcontrib>Artac, H.</creatorcontrib><creatorcontrib>van Eggermond, M. J.</creatorcontrib><creatorcontrib>van den Elsen, P.</creatorcontrib><creatorcontrib>Reisli, İ.</creatorcontrib><title>Type III bare lymphocyte syndrome associated with a novel RFXAP mutation: a case report</title><title>International journal of immunogenetics</title><addtitle>Int J Immunogenet</addtitle><description>Summary
Type III bare lymphocyte syndrome (BLS) is a severe combined immunodeficiency disease caused by the absence of MHC Class II expression associated with low expression of class I molecules. Here, we report a case with type III BLS who lacked RFXAP (Regulatory factor X‐associated protein) expression as a result from a novel mutation introducing a premature stopcodon in DE‐region at amino acid 73.</description><subject>Amino acids</subject><subject>Case reports</subject><subject>CD4-Positive T-Lymphocytes - metabolism</subject><subject>CD8-Positive T-Lymphocytes - metabolism</subject><subject>Codon, Nonsense - genetics</subject><subject>Female</subject><subject>Genetic Association Studies</subject><subject>Homozygote</subject><subject>Humans</subject><subject>Infant</subject><subject>Lymphocyte Count</subject><subject>Major histocompatibility complex</subject><subject>Mutation</subject><subject>Severe combined immunodeficiency</subject><subject>Severe Combined Immunodeficiency - genetics</subject><subject>Severe Combined Immunodeficiency - metabolism</subject><subject>Transcription Factors - genetics</subject><subject>Transcription Factors - metabolism</subject><issn>1744-3121</issn><issn>1744-313X</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2012</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqNkUtv1DAUhS0Eog_4C8hLNgl-xXGQWLQjpg2qWgRFnZ3lODdqhmQc7Ayd_Ps6nXbW9cZX9nfutc9BCFOS0ri-rFOaC5FwylcpI5SlhFKSpbs36Phw8fZQM3qETkJYE8KlEOQ9OmKMF4RxfozubqcBcFmWuDIecDf1w72z0wg4TJvaux6wCcHZ1oxQ44d2vMcGb9x_6PCv5ersJ-63oxlbt_kaz60JgD0Mzo8f0LvGdAE-Pu-n6M_y--3iMrm6uSgXZ1eJjS_JkkYRyUVT2ZwqqqzMAIQEltey4JmFSkKTs0oVFaNZTguTKVE0NbfWWKZE_MIp-rzvO3j3bwth1H0bLHSd2YDbBk0JU4RHVr4GFaQQUhQRVXvUeheCh0YPvu2NnyKk5wT0Ws_m6tloPSegnxLQuyj99DxlW_VQH4Qvlkfg2x54aDuYXt1Ylz_KuYr6ZK9vwwi7g974v1rmPM_03fWFXvw-X16v-LlW_BHwsqIg</recordid><startdate>201208</startdate><enddate>201208</enddate><creator>Gokturk, B.</creator><creator>Artac, H.</creator><creator>van Eggermond, M. 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J. ; van den Elsen, P. ; Reisli, İ.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c4405-f80634fbc71818c65ee46e27d6935ceb6ef72b89b215719a5849fd3ccac284023</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2012</creationdate><topic>Amino acids</topic><topic>Case reports</topic><topic>CD4-Positive T-Lymphocytes - metabolism</topic><topic>CD8-Positive T-Lymphocytes - metabolism</topic><topic>Codon, Nonsense - genetics</topic><topic>Female</topic><topic>Genetic Association Studies</topic><topic>Homozygote</topic><topic>Humans</topic><topic>Infant</topic><topic>Lymphocyte Count</topic><topic>Major histocompatibility complex</topic><topic>Mutation</topic><topic>Severe combined immunodeficiency</topic><topic>Severe Combined Immunodeficiency - genetics</topic><topic>Severe Combined Immunodeficiency - metabolism</topic><topic>Transcription Factors - genetics</topic><topic>Transcription Factors - metabolism</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Gokturk, B.</creatorcontrib><creatorcontrib>Artac, H.</creatorcontrib><creatorcontrib>van Eggermond, M. J.</creatorcontrib><creatorcontrib>van den Elsen, P.</creatorcontrib><creatorcontrib>Reisli, İ.</creatorcontrib><collection>Istex</collection><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><collection>Immunology Abstracts</collection><collection>Technology Research Database</collection><collection>Engineering Research Database</collection><collection>AIDS and Cancer Research Abstracts</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>Genetics Abstracts</collection><jtitle>International journal of immunogenetics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Gokturk, B.</au><au>Artac, H.</au><au>van Eggermond, M. J.</au><au>van den Elsen, P.</au><au>Reisli, İ.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Type III bare lymphocyte syndrome associated with a novel RFXAP mutation: a case report</atitle><jtitle>International journal of immunogenetics</jtitle><addtitle>Int J Immunogenet</addtitle><date>2012-08</date><risdate>2012</risdate><volume>39</volume><issue>4</issue><spage>362</spage><epage>364</epage><pages>362-364</pages><issn>1744-3121</issn><eissn>1744-313X</eissn><abstract>Summary
Type III bare lymphocyte syndrome (BLS) is a severe combined immunodeficiency disease caused by the absence of MHC Class II expression associated with low expression of class I molecules. Here, we report a case with type III BLS who lacked RFXAP (Regulatory factor X‐associated protein) expression as a result from a novel mutation introducing a premature stopcodon in DE‐region at amino acid 73.</abstract><cop>Oxford, UK</cop><pub>Blackwell Publishing Ltd</pub><pmid>22390233</pmid><doi>10.1111/j.1744-313X.2012.01105.x</doi><tpages>3</tpages></addata></record> |
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| ispartof | International journal of immunogenetics, 2012-08, Vol.39 (4), p.362-364 |
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| language | eng |
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| source | MEDLINE; Wiley Online Library Journals Frontfile Complete |
| subjects | Amino acids Case reports CD4-Positive T-Lymphocytes - metabolism CD8-Positive T-Lymphocytes - metabolism Codon, Nonsense - genetics Female Genetic Association Studies Homozygote Humans Infant Lymphocyte Count Major histocompatibility complex Mutation Severe combined immunodeficiency Severe Combined Immunodeficiency - genetics Severe Combined Immunodeficiency - metabolism Transcription Factors - genetics Transcription Factors - metabolism |
| title | Type III bare lymphocyte syndrome associated with a novel RFXAP mutation: a case report |
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