Gain-of-function mutation in PIK3R1 in a patient with a narrow clinical phenotype of respiratory infections
Antibody deficiencies can be caused by a variety of defects that interfere with B-cell development, maturation, and/or function. Using whole-exome sequencing we found a PIK3R1 mutation in a patient with hypogammaglobulinemia and a narrow clinical phenotype of respiratory infections. Early diagnosis...
Gespeichert in:
| Veröffentlicht in: | Clinical immunology (Orlando, Fla.) Fla.), 2016, Vol.173, p.117-120 |
|---|---|
| Hauptverfasser: | , , , , , , , , , , , , , , |
| Format: | Report |
| Sprache: | eng |
| Online-Zugang: | Volltext |
| Tags: |
Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
|
| container_end_page | 120 |
|---|---|
| container_issue | |
| container_start_page | 117 |
| container_title | Clinical immunology (Orlando, Fla.) |
| container_volume | 173 |
| creator | Martínez-Saavedra, María Teresa García-Gomez, Sonia Domínguez Acosta, Ana Mendoza Quintana, Juan Jesús Páez, Jesús Poch García-Reino, Eduardo J Camps, Gracián Martinez-Barricarte, Rubén Itan, Yuval Boisson, Bertrand Sánchez-Ramón, Silvia Regueiro, José Ramón Casanova, Jean-Laurent Rodríguez-Gallego, Carlos Pérez de Diego, Rebeca |
| description | Antibody deficiencies can be caused by a variety of defects that interfere with B-cell development, maturation, and/or function. Using whole-exome sequencing we found a PIK3R1 mutation in a patient with hypogammaglobulinemia and a narrow clinical phenotype of respiratory infections. Early diagnosis is crucial; careful analysis of B and T-cells followed by genetic analyses may help to distinguish activated PI3K-delta syndrome (APDS) from other, less severe, predominantly antibody deficiencies. |
| doi_str_mv | 10.1016/j.clim.2016.09.011 |
| format | Report |
| fullrecord | <record><control><sourceid>proquest</sourceid><recordid>TN_cdi_proquest_miscellaneous_1835351099</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>1835351099</sourcerecordid><originalsourceid>FETCH-proquest_miscellaneous_18353510993</originalsourceid><addsrcrecordid>eNqVjU9LAzEQxYMg2KpfwFOOXjbObEjbPYv_8CLivYRlQlOzk5hkKf32jcUv4On95vHePCHuEBQCrh72agx-Un1jBYMCxAuxQNNjtwZtrsSylD0AmL5fLcT3i_XcRde5mcfqI8tprvYMnuXH27v-xF-yMjWXuMqDr7t2ss05HmSbYj_aINOOONZjIhmdzFSSz7bGfGxlR-fP5UZcOhsK3f7ptbh_fvp6fO1Sjj8zlbqdfBkpBMsU57LFjTbaIAyD_kf0BHzTUmU</addsrcrecordid><sourcetype>Aggregation Database</sourcetype><iscdi>true</iscdi><recordtype>report</recordtype><pqid>1835351099</pqid></control><display><type>report</type><title>Gain-of-function mutation in PIK3R1 in a patient with a narrow clinical phenotype of respiratory infections</title><source>Elsevier ScienceDirect Journals Complete</source><creator>Martínez-Saavedra, María Teresa ; García-Gomez, Sonia ; Domínguez Acosta, Ana ; Mendoza Quintana, Juan Jesús ; Páez, Jesús Poch ; García-Reino, Eduardo J ; Camps, Gracián ; Martinez-Barricarte, Rubén ; Itan, Yuval ; Boisson, Bertrand ; Sánchez-Ramón, Silvia ; Regueiro, José Ramón ; Casanova, Jean-Laurent ; Rodríguez-Gallego, Carlos ; Pérez de Diego, Rebeca</creator><creatorcontrib>Martínez-Saavedra, María Teresa ; García-Gomez, Sonia ; Domínguez Acosta, Ana ; Mendoza Quintana, Juan Jesús ; Páez, Jesús Poch ; García-Reino, Eduardo J ; Camps, Gracián ; Martinez-Barricarte, Rubén ; Itan, Yuval ; Boisson, Bertrand ; Sánchez-Ramón, Silvia ; Regueiro, José Ramón ; Casanova, Jean-Laurent ; Rodríguez-Gallego, Carlos ; Pérez de Diego, Rebeca</creatorcontrib><description>Antibody deficiencies can be caused by a variety of defects that interfere with B-cell development, maturation, and/or function. Using whole-exome sequencing we found a PIK3R1 mutation in a patient with hypogammaglobulinemia and a narrow clinical phenotype of respiratory infections. Early diagnosis is crucial; careful analysis of B and T-cells followed by genetic analyses may help to distinguish activated PI3K-delta syndrome (APDS) from other, less severe, predominantly antibody deficiencies.</description><identifier>EISSN: 1521-7035</identifier><identifier>DOI: 10.1016/j.clim.2016.09.011</identifier><language>eng</language><ispartof>Clinical immunology (Orlando, Fla.), 2016, Vol.173, p.117-120</ispartof><woscitedreferencessubscribed>false</woscitedreferencessubscribed></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>780,784,4490,27925</link.rule.ids></links><search><creatorcontrib>Martínez-Saavedra, María Teresa</creatorcontrib><creatorcontrib>García-Gomez, Sonia</creatorcontrib><creatorcontrib>Domínguez Acosta, Ana</creatorcontrib><creatorcontrib>Mendoza Quintana, Juan Jesús</creatorcontrib><creatorcontrib>Páez, Jesús Poch</creatorcontrib><creatorcontrib>García-Reino, Eduardo J</creatorcontrib><creatorcontrib>Camps, Gracián</creatorcontrib><creatorcontrib>Martinez-Barricarte, Rubén</creatorcontrib><creatorcontrib>Itan, Yuval</creatorcontrib><creatorcontrib>Boisson, Bertrand</creatorcontrib><creatorcontrib>Sánchez-Ramón, Silvia</creatorcontrib><creatorcontrib>Regueiro, José Ramón</creatorcontrib><creatorcontrib>Casanova, Jean-Laurent</creatorcontrib><creatorcontrib>Rodríguez-Gallego, Carlos</creatorcontrib><creatorcontrib>Pérez de Diego, Rebeca</creatorcontrib><title>Gain-of-function mutation in PIK3R1 in a patient with a narrow clinical phenotype of respiratory infections</title><title>Clinical immunology (Orlando, Fla.)</title><description>Antibody deficiencies can be caused by a variety of defects that interfere with B-cell development, maturation, and/or function. Using whole-exome sequencing we found a PIK3R1 mutation in a patient with hypogammaglobulinemia and a narrow clinical phenotype of respiratory infections. Early diagnosis is crucial; careful analysis of B and T-cells followed by genetic analyses may help to distinguish activated PI3K-delta syndrome (APDS) from other, less severe, predominantly antibody deficiencies.</description><issn>1521-7035</issn><fulltext>true</fulltext><rsrctype>report</rsrctype><creationdate>2016</creationdate><recordtype>report</recordtype><recordid>eNqVjU9LAzEQxYMg2KpfwFOOXjbObEjbPYv_8CLivYRlQlOzk5hkKf32jcUv4On95vHePCHuEBQCrh72agx-Un1jBYMCxAuxQNNjtwZtrsSylD0AmL5fLcT3i_XcRde5mcfqI8tprvYMnuXH27v-xF-yMjWXuMqDr7t2ss05HmSbYj_aINOOONZjIhmdzFSSz7bGfGxlR-fP5UZcOhsK3f7ptbh_fvp6fO1Sjj8zlbqdfBkpBMsU57LFjTbaIAyD_kf0BHzTUmU</recordid><startdate>20161201</startdate><enddate>20161201</enddate><creator>Martínez-Saavedra, María Teresa</creator><creator>García-Gomez, Sonia</creator><creator>Domínguez Acosta, Ana</creator><creator>Mendoza Quintana, Juan Jesús</creator><creator>Páez, Jesús Poch</creator><creator>García-Reino, Eduardo J</creator><creator>Camps, Gracián</creator><creator>Martinez-Barricarte, Rubén</creator><creator>Itan, Yuval</creator><creator>Boisson, Bertrand</creator><creator>Sánchez-Ramón, Silvia</creator><creator>Regueiro, José Ramón</creator><creator>Casanova, Jean-Laurent</creator><creator>Rodríguez-Gallego, Carlos</creator><creator>Pérez de Diego, Rebeca</creator><scope>7X8</scope></search><sort><creationdate>20161201</creationdate><title>Gain-of-function mutation in PIK3R1 in a patient with a narrow clinical phenotype of respiratory infections</title><author>Martínez-Saavedra, María Teresa ; García-Gomez, Sonia ; Domínguez Acosta, Ana ; Mendoza Quintana, Juan Jesús ; Páez, Jesús Poch ; García-Reino, Eduardo J ; Camps, Gracián ; Martinez-Barricarte, Rubén ; Itan, Yuval ; Boisson, Bertrand ; Sánchez-Ramón, Silvia ; Regueiro, José Ramón ; Casanova, Jean-Laurent ; Rodríguez-Gallego, Carlos ; Pérez de Diego, Rebeca</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-proquest_miscellaneous_18353510993</frbrgroupid><rsrctype>reports</rsrctype><prefilter>reports</prefilter><language>eng</language><creationdate>2016</creationdate><toplevel>online_resources</toplevel><creatorcontrib>Martínez-Saavedra, María Teresa</creatorcontrib><creatorcontrib>García-Gomez, Sonia</creatorcontrib><creatorcontrib>Domínguez Acosta, Ana</creatorcontrib><creatorcontrib>Mendoza Quintana, Juan Jesús</creatorcontrib><creatorcontrib>Páez, Jesús Poch</creatorcontrib><creatorcontrib>García-Reino, Eduardo J</creatorcontrib><creatorcontrib>Camps, Gracián</creatorcontrib><creatorcontrib>Martinez-Barricarte, Rubén</creatorcontrib><creatorcontrib>Itan, Yuval</creatorcontrib><creatorcontrib>Boisson, Bertrand</creatorcontrib><creatorcontrib>Sánchez-Ramón, Silvia</creatorcontrib><creatorcontrib>Regueiro, José Ramón</creatorcontrib><creatorcontrib>Casanova, Jean-Laurent</creatorcontrib><creatorcontrib>Rodríguez-Gallego, Carlos</creatorcontrib><creatorcontrib>Pérez de Diego, Rebeca</creatorcontrib><collection>MEDLINE - Academic</collection></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Martínez-Saavedra, María Teresa</au><au>García-Gomez, Sonia</au><au>Domínguez Acosta, Ana</au><au>Mendoza Quintana, Juan Jesús</au><au>Páez, Jesús Poch</au><au>García-Reino, Eduardo J</au><au>Camps, Gracián</au><au>Martinez-Barricarte, Rubén</au><au>Itan, Yuval</au><au>Boisson, Bertrand</au><au>Sánchez-Ramón, Silvia</au><au>Regueiro, José Ramón</au><au>Casanova, Jean-Laurent</au><au>Rodríguez-Gallego, Carlos</au><au>Pérez de Diego, Rebeca</au><format>book</format><genre>unknown</genre><ristype>RPRT</ristype><atitle>Gain-of-function mutation in PIK3R1 in a patient with a narrow clinical phenotype of respiratory infections</atitle><jtitle>Clinical immunology (Orlando, Fla.)</jtitle><date>2016-12-01</date><risdate>2016</risdate><volume>173</volume><spage>117</spage><epage>120</epage><pages>117-120</pages><eissn>1521-7035</eissn><abstract>Antibody deficiencies can be caused by a variety of defects that interfere with B-cell development, maturation, and/or function. Using whole-exome sequencing we found a PIK3R1 mutation in a patient with hypogammaglobulinemia and a narrow clinical phenotype of respiratory infections. Early diagnosis is crucial; careful analysis of B and T-cells followed by genetic analyses may help to distinguish activated PI3K-delta syndrome (APDS) from other, less severe, predominantly antibody deficiencies.</abstract><doi>10.1016/j.clim.2016.09.011</doi></addata></record> |
| fulltext | fulltext |
| identifier | EISSN: 1521-7035 |
| ispartof | Clinical immunology (Orlando, Fla.), 2016, Vol.173, p.117-120 |
| issn | 1521-7035 |
| language | eng |
| recordid | cdi_proquest_miscellaneous_1835351099 |
| source | Elsevier ScienceDirect Journals Complete |
| title | Gain-of-function mutation in PIK3R1 in a patient with a narrow clinical phenotype of respiratory infections |
| url | https://sfx.bib-bvb.de/sfx_tum?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2025-01-04T12%3A07%3A41IST&url_ver=Z39.88-2004&url_ctx_fmt=infofi/fmt:kev:mtx:ctx&rfr_id=info:sid/primo.exlibrisgroup.com:primo3-Article-proquest&rft_val_fmt=info:ofi/fmt:kev:mtx:book&rft.genre=unknown&rft.atitle=Gain-of-function%20mutation%20in%20PIK3R1%20in%20a%20patient%20with%20a%20narrow%20clinical%20phenotype%20of%20respiratory%20infections&rft.jtitle=Clinical%20immunology%20(Orlando,%20Fla.)&rft.au=Mart%C3%ADnez-Saavedra,%20Mar%C3%ADa%20Teresa&rft.date=2016-12-01&rft.volume=173&rft.spage=117&rft.epage=120&rft.pages=117-120&rft.eissn=1521-7035&rft_id=info:doi/10.1016/j.clim.2016.09.011&rft_dat=%3Cproquest%3E1835351099%3C/proquest%3E%3Curl%3E%3C/url%3E&disable_directlink=true&sfx.directlink=off&sfx.report_link=0&rft_id=info:oai/&rft_pqid=1835351099&rft_id=info:pmid/&rfr_iscdi=true |