Long-Term Follow-up of STAT5B Deficiency in Three Argentinian Patients: Clinical and Immunological Features
ᅟ The signal transducer and activator of transcription (STAT) family of proteins regulate gene transcription in response to a variety of cytokines. STAT5B, in particular, plays an important role in T cells, where it is a key mediator of interleukin-2 (IL-2) induced responses. STAT5B deficiency cause...
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| Veröffentlicht in: | Journal of clinical immunology 2015-04, Vol.35 (3), p.264-272 |
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| container_title | Journal of clinical immunology |
| container_volume | 35 |
| creator | Bezrodnik, Liliana Di Giovanni, Daniela Caldirola, María Soledad Azcoiti, María Esnaola Torgerson, Troy Gaillard, María Isabel |
| description | ᅟ
The signal transducer and activator of transcription (STAT) family of proteins regulate gene transcription in response to a variety of cytokines. STAT5B, in particular, plays an important role in T cells, where it is a key mediator of interleukin-2 (IL-2) induced responses. STAT5B deficiency causes a rare autosomal recessive disorder reported in only a handful of individuals. There are currently ten published cases of STAT5B deficiency, four of which are Argentinians.
Aim
This is a report of more than 10 years follow up of the clinical and immunological features of three Argentinian STAT5B deficient patients.
Conclusion
More than a decade of follow-up demonstrates that STAT5B deficiency is associated with various clinical pathologies that cause significant morbidity. Early diagnosis is critical for the prevention and improvement of clinical outcomes for STAT5B deficient patients. |
| doi_str_mv | 10.1007/s10875-015-0145-5 |
| format | Article |
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The signal transducer and activator of transcription (STAT) family of proteins regulate gene transcription in response to a variety of cytokines. STAT5B, in particular, plays an important role in T cells, where it is a key mediator of interleukin-2 (IL-2) induced responses. STAT5B deficiency causes a rare autosomal recessive disorder reported in only a handful of individuals. There are currently ten published cases of STAT5B deficiency, four of which are Argentinians.
Aim
This is a report of more than 10 years follow up of the clinical and immunological features of three Argentinian STAT5B deficient patients.
Conclusion
More than a decade of follow-up demonstrates that STAT5B deficiency is associated with various clinical pathologies that cause significant morbidity. Early diagnosis is critical for the prevention and improvement of clinical outcomes for STAT5B deficient patients.</description><identifier>ISSN: 0271-9142</identifier><identifier>EISSN: 1573-2592</identifier><identifier>DOI: 10.1007/s10875-015-0145-5</identifier><identifier>PMID: 25753012</identifier><identifier>CODEN: JCIMDO</identifier><language>eng</language><publisher>Boston: Springer US</publisher><subject>Adult ; Argentina ; Autoantibodies - blood ; B-Lymphocytes - immunology ; Biomedical and Life Sciences ; Biomedicine ; Female ; Humans ; Immunoglobulins - blood ; Immunologic Deficiency Syndromes - blood ; Immunologic Deficiency Syndromes - genetics ; Immunologic Deficiency Syndromes - immunology ; Immunology ; Infectious Diseases ; Internal Medicine ; Lymphocyte Count ; Medical Microbiology ; Mutation ; Original Research ; STAT5 Transcription Factor - deficiency ; STAT5 Transcription Factor - genetics ; T-Lymphocytes - immunology ; Young Adult</subject><ispartof>Journal of clinical immunology, 2015-04, Vol.35 (3), p.264-272</ispartof><rights>Springer Science+Business Media New York 2015</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c471t-826c0bd9e580d3b47c5b9b5f8b2e3420497c658ea2b7d9b164c8645f10e20bca3</citedby><cites>FETCH-LOGICAL-c471t-826c0bd9e580d3b47c5b9b5f8b2e3420497c658ea2b7d9b164c8645f10e20bca3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://link.springer.com/content/pdf/10.1007/s10875-015-0145-5$$EPDF$$P50$$Gspringer$$H</linktopdf><linktohtml>$$Uhttps://link.springer.com/10.1007/s10875-015-0145-5$$EHTML$$P50$$Gspringer$$H</linktohtml><link.rule.ids>315,781,785,27929,27930,41493,42562,51324</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/25753012$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Bezrodnik, Liliana</creatorcontrib><creatorcontrib>Di Giovanni, Daniela</creatorcontrib><creatorcontrib>Caldirola, María Soledad</creatorcontrib><creatorcontrib>Azcoiti, María Esnaola</creatorcontrib><creatorcontrib>Torgerson, Troy</creatorcontrib><creatorcontrib>Gaillard, María Isabel</creatorcontrib><title>Long-Term Follow-up of STAT5B Deficiency in Three Argentinian Patients: Clinical and Immunological Features</title><title>Journal of clinical immunology</title><addtitle>J Clin Immunol</addtitle><addtitle>J Clin Immunol</addtitle><description>ᅟ
The signal transducer and activator of transcription (STAT) family of proteins regulate gene transcription in response to a variety of cytokines. STAT5B, in particular, plays an important role in T cells, where it is a key mediator of interleukin-2 (IL-2) induced responses. STAT5B deficiency causes a rare autosomal recessive disorder reported in only a handful of individuals. There are currently ten published cases of STAT5B deficiency, four of which are Argentinians.
Aim
This is a report of more than 10 years follow up of the clinical and immunological features of three Argentinian STAT5B deficient patients.
Conclusion
More than a decade of follow-up demonstrates that STAT5B deficiency is associated with various clinical pathologies that cause significant morbidity. Early diagnosis is critical for the prevention and improvement of clinical outcomes for STAT5B deficient patients.</description><subject>Adult</subject><subject>Argentina</subject><subject>Autoantibodies - blood</subject><subject>B-Lymphocytes - immunology</subject><subject>Biomedical and Life Sciences</subject><subject>Biomedicine</subject><subject>Female</subject><subject>Humans</subject><subject>Immunoglobulins - blood</subject><subject>Immunologic Deficiency Syndromes - blood</subject><subject>Immunologic Deficiency Syndromes - genetics</subject><subject>Immunologic Deficiency Syndromes - immunology</subject><subject>Immunology</subject><subject>Infectious Diseases</subject><subject>Internal Medicine</subject><subject>Lymphocyte Count</subject><subject>Medical Microbiology</subject><subject>Mutation</subject><subject>Original Research</subject><subject>STAT5 Transcription Factor - deficiency</subject><subject>STAT5 Transcription Factor - genetics</subject><subject>T-Lymphocytes - immunology</subject><subject>Young Adult</subject><issn>0271-9142</issn><issn>1573-2592</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2015</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>ABUWG</sourceid><sourceid>AFKRA</sourceid><sourceid>AZQEC</sourceid><sourceid>BENPR</sourceid><sourceid>CCPQU</sourceid><sourceid>DWQXO</sourceid><sourceid>GNUQQ</sourceid><recordid>eNqNkV1rFDEUhoModrv6A3ojAW-8Sc3nZMa7de22hQULHa9DkjmzTp1J1mQG6b_vbLcWEQQvQuCc531DeBA6Y_ScUao_ZkZLrQhlhyMVUS_QgiktCFcVf4kWlGtGKib5CTrN-Y5SKgquXqMTrrQSlPEF-rGNYUdqSAPexL6Pv8i0x7HFt_WqVp_xF2g730Hw97gLuP6eAPAq7SCMXehswDd2nLdj_oTX_Tzxtsc2NPh6GKYQ-7h7nGzAjlOC_Aa9am2f4e3TvUTfNhf1-opsv15er1db4qVmIyl54alrKlAlbYST2itXOdWWjoOQnMpK-0KVYLnTTeVYIX1ZSNUyCpw6b8USfTj27lP8OUEezdBlD31vA8QpG1ZoISrFuPwPtJBaaz4nluj9X-hdnFKYP_JIMcoLoWaKHSmfYs4JWrNP3WDTvWHUHKSZozQzSzMHaeaQeffUPLkBmufEb0szwI9AnldhB-mPp__Z-gBZx5_L</recordid><startdate>20150401</startdate><enddate>20150401</enddate><creator>Bezrodnik, Liliana</creator><creator>Di Giovanni, Daniela</creator><creator>Caldirola, María Soledad</creator><creator>Azcoiti, María Esnaola</creator><creator>Torgerson, Troy</creator><creator>Gaillard, María Isabel</creator><general>Springer US</general><general>Springer Nature B.V</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>3V.</scope><scope>7T5</scope><scope>7X7</scope><scope>7XB</scope><scope>88E</scope><scope>8AO</scope><scope>8C1</scope><scope>8FE</scope><scope>8FH</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>AZQEC</scope><scope>BBNVY</scope><scope>BENPR</scope><scope>BHPHI</scope><scope>CCPQU</scope><scope>DWQXO</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>GNUQQ</scope><scope>H94</scope><scope>HCIFZ</scope><scope>K9.</scope><scope>LK8</scope><scope>M0S</scope><scope>M1P</scope><scope>M7P</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><scope>7X8</scope></search><sort><creationdate>20150401</creationdate><title>Long-Term Follow-up of STAT5B Deficiency in Three Argentinian Patients: Clinical and Immunological Features</title><author>Bezrodnik, Liliana ; Di Giovanni, Daniela ; Caldirola, María Soledad ; Azcoiti, María Esnaola ; Torgerson, Troy ; Gaillard, María Isabel</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c471t-826c0bd9e580d3b47c5b9b5f8b2e3420497c658ea2b7d9b164c8645f10e20bca3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2015</creationdate><topic>Adult</topic><topic>Argentina</topic><topic>Autoantibodies - blood</topic><topic>B-Lymphocytes - immunology</topic><topic>Biomedical and Life Sciences</topic><topic>Biomedicine</topic><topic>Female</topic><topic>Humans</topic><topic>Immunoglobulins - blood</topic><topic>Immunologic Deficiency Syndromes - blood</topic><topic>Immunologic Deficiency Syndromes - genetics</topic><topic>Immunologic Deficiency Syndromes - immunology</topic><topic>Immunology</topic><topic>Infectious Diseases</topic><topic>Internal Medicine</topic><topic>Lymphocyte Count</topic><topic>Medical Microbiology</topic><topic>Mutation</topic><topic>Original Research</topic><topic>STAT5 Transcription Factor - deficiency</topic><topic>STAT5 Transcription Factor - genetics</topic><topic>T-Lymphocytes - immunology</topic><topic>Young Adult</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Bezrodnik, Liliana</creatorcontrib><creatorcontrib>Di Giovanni, Daniela</creatorcontrib><creatorcontrib>Caldirola, María Soledad</creatorcontrib><creatorcontrib>Azcoiti, María Esnaola</creatorcontrib><creatorcontrib>Torgerson, Troy</creatorcontrib><creatorcontrib>Gaillard, María Isabel</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>ProQuest Central (Corporate)</collection><collection>Immunology Abstracts</collection><collection>Health & Medical Collection</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Medical Database (Alumni Edition)</collection><collection>ProQuest Pharma Collection</collection><collection>Public Health Database</collection><collection>ProQuest SciTech Collection</collection><collection>ProQuest Natural Science Collection</collection><collection>Hospital Premium Collection</collection><collection>Hospital Premium Collection (Alumni Edition)</collection><collection>ProQuest Central (Alumni) (purchase pre-March 2016)</collection><collection>ProQuest Central (Alumni Edition)</collection><collection>ProQuest Central UK/Ireland</collection><collection>ProQuest Central Essentials</collection><collection>Biological Science Collection</collection><collection>ProQuest Central</collection><collection>Natural Science Collection</collection><collection>ProQuest One Community College</collection><collection>ProQuest Central Korea</collection><collection>Health Research Premium Collection</collection><collection>Health Research Premium Collection (Alumni)</collection><collection>ProQuest Central Student</collection><collection>AIDS and Cancer Research Abstracts</collection><collection>SciTech Premium Collection</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>ProQuest Biological Science Collection</collection><collection>Health & Medical Collection (Alumni Edition)</collection><collection>Medical Database</collection><collection>Biological Science Database</collection><collection>ProQuest One Academic Eastern Edition (DO NOT USE)</collection><collection>ProQuest One Academic</collection><collection>ProQuest One Academic UKI Edition</collection><collection>ProQuest Central China</collection><collection>MEDLINE - Academic</collection><jtitle>Journal of clinical immunology</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Bezrodnik, Liliana</au><au>Di Giovanni, Daniela</au><au>Caldirola, María Soledad</au><au>Azcoiti, María Esnaola</au><au>Torgerson, Troy</au><au>Gaillard, María Isabel</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Long-Term Follow-up of STAT5B Deficiency in Three Argentinian Patients: Clinical and Immunological Features</atitle><jtitle>Journal of clinical immunology</jtitle><stitle>J Clin Immunol</stitle><addtitle>J Clin Immunol</addtitle><date>2015-04-01</date><risdate>2015</risdate><volume>35</volume><issue>3</issue><spage>264</spage><epage>272</epage><pages>264-272</pages><issn>0271-9142</issn><eissn>1573-2592</eissn><coden>JCIMDO</coden><abstract>ᅟ
The signal transducer and activator of transcription (STAT) family of proteins regulate gene transcription in response to a variety of cytokines. STAT5B, in particular, plays an important role in T cells, where it is a key mediator of interleukin-2 (IL-2) induced responses. STAT5B deficiency causes a rare autosomal recessive disorder reported in only a handful of individuals. There are currently ten published cases of STAT5B deficiency, four of which are Argentinians.
Aim
This is a report of more than 10 years follow up of the clinical and immunological features of three Argentinian STAT5B deficient patients.
Conclusion
More than a decade of follow-up demonstrates that STAT5B deficiency is associated with various clinical pathologies that cause significant morbidity. Early diagnosis is critical for the prevention and improvement of clinical outcomes for STAT5B deficient patients.</abstract><cop>Boston</cop><pub>Springer US</pub><pmid>25753012</pmid><doi>10.1007/s10875-015-0145-5</doi><tpages>9</tpages></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 0271-9142 |
| ispartof | Journal of clinical immunology, 2015-04, Vol.35 (3), p.264-272 |
| issn | 0271-9142 1573-2592 |
| language | eng |
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| source | MEDLINE; SpringerLink Journals - AutoHoldings |
| subjects | Adult Argentina Autoantibodies - blood B-Lymphocytes - immunology Biomedical and Life Sciences Biomedicine Female Humans Immunoglobulins - blood Immunologic Deficiency Syndromes - blood Immunologic Deficiency Syndromes - genetics Immunologic Deficiency Syndromes - immunology Immunology Infectious Diseases Internal Medicine Lymphocyte Count Medical Microbiology Mutation Original Research STAT5 Transcription Factor - deficiency STAT5 Transcription Factor - genetics T-Lymphocytes - immunology Young Adult |
| title | Long-Term Follow-up of STAT5B Deficiency in Three Argentinian Patients: Clinical and Immunological Features |
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