Links to Exploration step
Le document en format XML
<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Outcomes and treatment strategies for autoimmunity and hyperinflammation in patients with RAG deficiency.</title><author><name sortKey="Farmer, Jocelyn R" sort="Farmer, Jocelyn R" uniqKey="Farmer J" first="Jocelyn R." last="Farmer">Jocelyn R. Farmer</name><affiliation><nlm:aff>NONE</nlm:aff></affiliation></author><author><name sortKey="Foldvari, Zsofia" sort="Foldvari, Zsofia" uniqKey="Foldvari Z" first="Zsofia" last="Foldvari">Zsofia Foldvari</name><affiliation><nlm:aff>NONE</nlm:aff></affiliation></author><author><name sortKey="Ujhazi, Boglarka" sort="Ujhazi, Boglarka" uniqKey="Ujhazi B" first="Boglarka" last="Ujhazi">Boglarka Ujhazi</name><affiliation><nlm:aff>NONE</nlm:aff></affiliation></author><author><name sortKey="De Ravin, Suk See" sort="De Ravin, Suk See" uniqKey="De Ravin S" first="Suk See" last="De Ravin">Suk See De Ravin</name><affiliation><nlm:aff>NONE</nlm:aff></affiliation></author><author><name sortKey="Chen, Karin" sort="Chen, Karin" uniqKey="Chen K" first="Karin" last="Chen">Karin Chen</name><affiliation><nlm:aff>NONE</nlm:aff></affiliation></author><author><name sortKey="Bleesing, Jack J H" sort="Bleesing, Jack J H" uniqKey="Bleesing J" first="Jack J. H." last="Bleesing">Jack J. H. Bleesing</name><affiliation><nlm:aff>NONE</nlm:aff></affiliation></author><author><name sortKey="Schuetz, Catharina" sort="Schuetz, Catharina" uniqKey="Schuetz C" first="Catharina" last="Schuetz">Catharina Schuetz</name><affiliation><nlm:aff>NONE</nlm:aff></affiliation></author><author><name sortKey="Al Herz, Waleed" sort="Al Herz, Waleed" uniqKey="Al Herz W" first="Waleed" last="Al-Herz">Waleed Al-Herz</name><affiliation><nlm:aff>NONE</nlm:aff></affiliation><affiliation><nlm:aff>NONE</nlm:aff></affiliation></author><author><name sortKey="Abraham, Roshini Sarah" sort="Abraham, Roshini Sarah" uniqKey="Abraham R" first="Roshini Sarah" last="Abraham">Roshini Sarah Abraham</name><affiliation><nlm:aff>NONE</nlm:aff></affiliation><affiliation><nlm:aff>NONE</nlm:aff></affiliation></author><author><name sortKey="Joshi, Avni Y" sort="Joshi, Avni Y" uniqKey="Joshi A" first="Avni Y." last="Joshi">Avni Y. Joshi</name><affiliation><nlm:aff>NONE</nlm:aff></affiliation></author><author><name sortKey="Costa Carvalho, Beatriz T" sort="Costa Carvalho, Beatriz T" uniqKey="Costa Carvalho B" first="Beatriz T." last="Costa-Carvalho">Beatriz T. Costa-Carvalho</name><affiliation><nlm:aff>NONE</nlm:aff></affiliation></author><author><name sortKey="Buchbinder, David" sort="Buchbinder, David" uniqKey="Buchbinder D" first="David" last="Buchbinder">David Buchbinder</name><affiliation><nlm:aff>NONE</nlm:aff></affiliation></author><author><name sortKey="Booth, Claire" sort="Booth, Claire" uniqKey="Booth C" first="Claire" last="Booth">Claire Booth</name><affiliation><nlm:aff>NONE</nlm:aff></affiliation></author><author><name sortKey="Reiff, Andreas" sort="Reiff, Andreas" uniqKey="Reiff A" first="Andreas" last="Reiff">Andreas Reiff</name><affiliation><nlm:aff>NONE</nlm:aff></affiliation></author><author><name sortKey="Ferguson, Polly J" sort="Ferguson, Polly J" uniqKey="Ferguson P" first="Polly J." last="Ferguson">Polly J. Ferguson</name><affiliation><nlm:aff>NONE</nlm:aff></affiliation></author><author><name sortKey="Aghamohammadi, Asghar" sort="Aghamohammadi, Asghar" uniqKey="Aghamohammadi A" first="Asghar" last="Aghamohammadi">Asghar Aghamohammadi</name><affiliation><nlm:aff>NONE</nlm:aff></affiliation></author><author><name sortKey="Abolhassani, Hassan" sort="Abolhassani, Hassan" uniqKey="Abolhassani H" first="Hassan" last="Abolhassani">Hassan Abolhassani</name><affiliation><nlm:aff>NONE</nlm:aff></affiliation></author><author><name sortKey="Puck, Jennifer M" sort="Puck, Jennifer M" uniqKey="Puck J" first="Jennifer M." last="Puck">Jennifer M. Puck</name><affiliation><nlm:aff>NONE</nlm:aff></affiliation></author><author><name sortKey="Adeli, Mehdi" sort="Adeli, Mehdi" uniqKey="Adeli M" first="Mehdi" last="Adeli">Mehdi Adeli</name><affiliation><nlm:aff>NONE</nlm:aff></affiliation></author><author><name sortKey="Cancrini, Caterina" sort="Cancrini, Caterina" uniqKey="Cancrini C" first="Caterina" last="Cancrini">Caterina Cancrini</name><affiliation><nlm:aff>NONE</nlm:aff></affiliation><affiliation><nlm:aff>NONE</nlm:aff></affiliation></author><author><name sortKey="Palma, Paolo" sort="Palma, Paolo" uniqKey="Palma P" first="Paolo" last="Palma">Paolo Palma</name><affiliation><nlm:aff>NONE</nlm:aff></affiliation></author><author><name sortKey="Bertaina, Alice" sort="Bertaina, Alice" uniqKey="Bertaina A" first="Alice" last="Bertaina">Alice Bertaina</name><affiliation><nlm:aff>NONE</nlm:aff></affiliation></author><author><name sortKey="Locatelli, Franco" sort="Locatelli, Franco" uniqKey="Locatelli F" first="Franco" last="Locatelli">Franco Locatelli</name><affiliation><nlm:aff>NONE</nlm:aff></affiliation><affiliation><nlm:aff>NONE</nlm:aff></affiliation></author><author><name sortKey="Di Matteo, Gigliola" sort="Di Matteo, Gigliola" uniqKey="Di Matteo G" first="Gigliola" last="Di Matteo">Gigliola Di Matteo</name><affiliation><nlm:aff>NONE</nlm:aff></affiliation><affiliation><nlm:aff>NONE</nlm:aff></affiliation></author><author><name sortKey="Geha, Raif S" sort="Geha, Raif S" uniqKey="Geha R" first="Raif S." last="Geha">Raif S. Geha</name><affiliation><nlm:aff>NONE</nlm:aff></affiliation></author><author><name sortKey="Kanariou, Maria G" sort="Kanariou, Maria G" uniqKey="Kanariou M" first="Maria G." last="Kanariou">Maria G. Kanariou</name><affiliation><nlm:aff>NONE</nlm:aff></affiliation></author><author><name sortKey="Lycopoulou, Evangelia" sort="Lycopoulou, Evangelia" uniqKey="Lycopoulou E" first="Evangelia" last="Lycopoulou">Evangelia Lycopoulou</name><affiliation><nlm:aff>NONE</nlm:aff></affiliation></author><author><name sortKey="Tzanoudaki, Marianna" sort="Tzanoudaki, Marianna" uniqKey="Tzanoudaki M" first="Marianna" last="Tzanoudaki">Marianna Tzanoudaki</name><affiliation><nlm:aff>NONE</nlm:aff></affiliation></author><author><name sortKey="Sleasman, John W" sort="Sleasman, John W" uniqKey="Sleasman J" first="John W." last="Sleasman">John W. Sleasman</name><affiliation><nlm:aff>NONE</nlm:aff></affiliation></author><author><name sortKey="Parikh, Suhag" sort="Parikh, Suhag" uniqKey="Parikh S" first="Suhag" last="Parikh">Suhag Parikh</name><affiliation><nlm:aff>NONE</nlm:aff></affiliation></author><author><name sortKey="Pinero, Gloria" sort="Pinero, Gloria" uniqKey="Pinero G" first="Gloria" last="Pinero">Gloria Pinero</name><affiliation><nlm:aff>NONE</nlm:aff></affiliation></author><author><name sortKey="Fischer, Bernard M" sort="Fischer, Bernard M" uniqKey="Fischer B" first="Bernard M." last="Fischer">Bernard M. Fischer</name><affiliation><nlm:aff>NONE</nlm:aff></affiliation></author><author><name sortKey="Dbaibo, Ghassan" sort="Dbaibo, Ghassan" uniqKey="Dbaibo G" first="Ghassan" last="Dbaibo">Ghassan Dbaibo</name><affiliation><nlm:aff>NONE</nlm:aff></affiliation></author><author><name sortKey="Unal, Ekrem" sort="Unal, Ekrem" uniqKey="Unal E" first="Ekrem" last="Unal">Ekrem Unal</name><affiliation><nlm:aff>NONE</nlm:aff></affiliation></author><author><name sortKey="Patiroglu, Turkan" sort="Patiroglu, Turkan" uniqKey="Patiroglu T" first="Turkan" last="Patiroglu">Turkan Patiroglu</name><affiliation><nlm:aff>NONE</nlm:aff></affiliation><affiliation><nlm:aff>NONE</nlm:aff></affiliation></author><author><name sortKey="Karakukcu, Musa" sort="Karakukcu, Musa" uniqKey="Karakukcu M" first="Musa" last="Karakukcu">Musa Karakukcu</name><affiliation><nlm:aff>NONE</nlm:aff></affiliation></author><author><name sortKey="Al Saad, Khulood Khalifa" sort="Al Saad, Khulood Khalifa" uniqKey="Al Saad K" first="Khulood Khalifa" last="Al-Saad">Khulood Khalifa Al-Saad</name><affiliation><nlm:aff>NONE</nlm:aff></affiliation></author><author><name sortKey="Dilley, Meredith A" sort="Dilley, Meredith A" uniqKey="Dilley M" first="Meredith A." last="Dilley">Meredith A. Dilley</name><affiliation><nlm:aff>NONE</nlm:aff></affiliation></author><author><name sortKey="Pai, Sung Yun" sort="Pai, Sung Yun" uniqKey="Pai S" first="Sung-Yun" last="Pai">Sung-Yun Pai</name><affiliation><nlm:aff>NONE</nlm:aff></affiliation><affiliation><nlm:aff>NONE</nlm:aff></affiliation><affiliation><nlm:aff>NONE</nlm:aff></affiliation></author><author><name sortKey="Dutmer, Cullen M" sort="Dutmer, Cullen M" uniqKey="Dutmer C" first="Cullen M." last="Dutmer">Cullen M. Dutmer</name><affiliation><nlm:aff>NONE</nlm:aff></affiliation></author><author><name sortKey="Gelfand, Erwin W" sort="Gelfand, Erwin W" uniqKey="Gelfand E" first="Erwin W." last="Gelfand">Erwin W. Gelfand</name><affiliation><nlm:aff>NONE</nlm:aff></affiliation></author><author><name sortKey="Geier, Christoph B" sort="Geier, Christoph B" uniqKey="Geier C" first="Christoph B." last="Geier">Christoph B. Geier</name><affiliation><nlm:aff>NONE</nlm:aff></affiliation></author><author><name sortKey="Eibl, Martha M" sort="Eibl, Martha M" uniqKey="Eibl M" first="Martha M." last="Eibl">Martha M. Eibl</name><affiliation><nlm:aff>NONE</nlm:aff></affiliation><affiliation><nlm:aff>NONE</nlm:aff></affiliation></author><author><name sortKey="Wolf, Hermann M" sort="Wolf, Hermann M" uniqKey="Wolf H" first="Hermann M." last="Wolf">Hermann M. Wolf</name><affiliation><nlm:aff>NONE</nlm:aff></affiliation><affiliation><nlm:aff>NONE</nlm:aff></affiliation></author><author><name sortKey="Henderson, Lauren A" sort="Henderson, Lauren A" uniqKey="Henderson L" first="Lauren A." last="Henderson">Lauren A. Henderson</name><affiliation><nlm:aff>NONE</nlm:aff></affiliation></author><author><name sortKey="Hazen, Melissa M" sort="Hazen, Melissa M" uniqKey="Hazen M" first="Melissa M." last="Hazen">Melissa M. Hazen</name><affiliation><nlm:aff>NONE</nlm:aff></affiliation></author><author><name sortKey="Bonfim, Carmem" sort="Bonfim, Carmem" uniqKey="Bonfim C" first="Carmem" last="Bonfim">Carmem Bonfim</name><affiliation><nlm:aff>NONE</nlm:aff></affiliation></author><author><name sortKey="Wolska Ku Nierz, Beata" sort="Wolska Ku Nierz, Beata" uniqKey="Wolska Ku Nierz B" first="Beata" last="Wolska-Ku Nierz">Beata Wolska-Ku Nierz</name><affiliation><nlm:aff>NONE</nlm:aff></affiliation></author><author><name sortKey="Butte, Manish J" sort="Butte, Manish J" uniqKey="Butte M" first="Manish J." last="Butte">Manish J. Butte</name><affiliation><nlm:aff>NONE</nlm:aff></affiliation></author><author><name sortKey="Hernandez, Joseph D" sort="Hernandez, Joseph D" uniqKey="Hernandez J" first="Joseph D." last="Hernandez">Joseph D. Hernandez</name><affiliation><nlm:aff>NONE</nlm:aff></affiliation></author><author><name sortKey="Nicholas, Sarah K" sort="Nicholas, Sarah K" uniqKey="Nicholas S" first="Sarah K." last="Nicholas">Sarah K. Nicholas</name><affiliation><nlm:aff>NONE</nlm:aff></affiliation></author><author><name sortKey="Stepensky, Polina" sort="Stepensky, Polina" uniqKey="Stepensky P" first="Polina" last="Stepensky">Polina Stepensky</name><affiliation><nlm:aff>NONE</nlm:aff></affiliation></author><author><name sortKey="Chandrakasan, Shanmuganathan" sort="Chandrakasan, Shanmuganathan" uniqKey="Chandrakasan S" first="Shanmuganathan" last="Chandrakasan">Shanmuganathan Chandrakasan</name><affiliation><nlm:aff>NONE</nlm:aff></affiliation></author><author><name sortKey="Miano, Maurizio" sort="Miano, Maurizio" uniqKey="Miano M" first="Maurizio" last="Miano">Maurizio Miano</name><affiliation><nlm:aff>NONE</nlm:aff></affiliation></author><author><name sortKey="Westermann Clark, Emma" sort="Westermann Clark, Emma" uniqKey="Westermann Clark E" first="Emma" last="Westermann-Clark">Emma Westermann-Clark</name><affiliation><nlm:aff>NONE</nlm:aff></affiliation></author><author><name sortKey="Goda, Vera" sort="Goda, Vera" uniqKey="Goda V" first="Vera" last="Goda">Vera Goda</name><affiliation><nlm:aff>NONE</nlm:aff></affiliation></author><author><name sortKey="Krivan, Gergely" sort="Krivan, Gergely" uniqKey="Krivan G" first="Gergely" last="Kriván">Gergely Kriván</name><affiliation><nlm:aff>NONE</nlm:aff></affiliation></author><author><name sortKey="Holland, Steven M" sort="Holland, Steven M" uniqKey="Holland S" first="Steven M." last="Holland">Steven M. Holland</name><affiliation><nlm:aff>NONE</nlm:aff></affiliation></author><author><name sortKey="Fadugba, Olajumoke" sort="Fadugba, Olajumoke" uniqKey="Fadugba O" first="Olajumoke" last="Fadugba">Olajumoke Fadugba</name><affiliation><nlm:aff>NONE</nlm:aff></affiliation></author><author><name sortKey="Henrickson, Sarah E" sort="Henrickson, Sarah E" uniqKey="Henrickson S" first="Sarah E" last="Henrickson">Sarah E. Henrickson</name><affiliation><nlm:aff>NONE</nlm:aff></affiliation><affiliation><nlm:aff>NONE</nlm:aff></affiliation></author><author><name sortKey="Ozen, Ahmet" sort="Ozen, Ahmet" uniqKey="Ozen A" first="Ahmet" last="Ozen">Ahmet Ozen</name><affiliation><nlm:aff>NONE</nlm:aff></affiliation></author><author><name sortKey="Karakoc Aydiner, Elif" sort="Karakoc Aydiner, Elif" uniqKey="Karakoc Aydiner E" first="Elif" last="Karakoc-Aydiner">Elif Karakoc-Aydiner</name><affiliation><nlm:aff>NONE</nlm:aff></affiliation></author><author><name sortKey="Baris, Safa" sort="Baris, Safa" uniqKey="Baris S" first="Safa" last="Baris">Safa Baris</name><affiliation><nlm:aff>NONE</nlm:aff></affiliation></author><author><name sortKey="Kiykim, Ayca" sort="Kiykim, Ayca" uniqKey="Kiykim A" first="Ayca" last="Kiykim">Ayca Kiykim</name><affiliation><nlm:aff>NONE</nlm:aff></affiliation></author><author><name sortKey="Bredius, Robbert" sort="Bredius, Robbert" uniqKey="Bredius R" first="Robbert" last="Bredius">Robbert Bredius</name><affiliation><nlm:aff>NONE</nlm:aff></affiliation></author><author><name sortKey="Hoeger, Birgit" sort="Hoeger, Birgit" uniqKey="Hoeger B" first="Birgit" last="Hoeger">Birgit Hoeger</name><affiliation><nlm:aff>NONE</nlm:aff></affiliation><affiliation><nlm:aff>NONE</nlm:aff></affiliation></author><author><name sortKey="Boztug, Kaan" sort="Boztug, Kaan" uniqKey="Boztug K" first="Kaan" last="Boztug">Kaan Boztug</name><affiliation><nlm:aff>NONE</nlm:aff></affiliation><affiliation><nlm:aff>NONE</nlm:aff></affiliation><affiliation><nlm:aff>NONE</nlm:aff></affiliation><affiliation><nlm:aff>NONE</nlm:aff></affiliation></author><author><name sortKey="Pashchenko, Olga" sort="Pashchenko, Olga" uniqKey="Pashchenko O" first="Olga" last="Pashchenko">Olga Pashchenko</name><affiliation><nlm:aff>NONE</nlm:aff></affiliation></author><author><name sortKey="Neven, Benedicte" sort="Neven, Benedicte" uniqKey="Neven B" first="Benedicte" last="Neven">Benedicte Neven</name><affiliation><nlm:aff>NONE</nlm:aff></affiliation><affiliation><nlm:aff>NONE</nlm:aff></affiliation><affiliation><nlm:aff>NONE</nlm:aff></affiliation></author><author><name sortKey="Moshous, Despina" sort="Moshous, Despina" uniqKey="Moshous D" first="Despina" last="Moshous">Despina Moshous</name><affiliation><nlm:aff>NONE</nlm:aff></affiliation><affiliation><nlm:aff>NONE</nlm:aff></affiliation><affiliation><nlm:aff>NONE</nlm:aff></affiliation></author><author><name sortKey="De Villartay, Jean Pierre" sort="De Villartay, Jean Pierre" uniqKey="De Villartay J" first="Jean-Pierre" last="De Villartay">Jean-Pierre De Villartay</name><affiliation><nlm:aff>NONE</nlm:aff></affiliation></author><author><name sortKey="Bousfiha, Ahmed Aziz" sort="Bousfiha, Ahmed Aziz" uniqKey="Bousfiha A" first="Ahmed Aziz" last="Bousfiha">Ahmed Aziz Bousfiha</name><affiliation><nlm:aff>NONE</nlm:aff></affiliation></author><author><name sortKey="Hill, Harry R" sort="Hill, Harry R" uniqKey="Hill H" first="Harry R." last="Hill">Harry R. Hill</name><affiliation><nlm:aff>NONE</nlm:aff></affiliation></author><author><name sortKey="Notarangelo, Luigi D" sort="Notarangelo, Luigi D" uniqKey="Notarangelo L" first="Luigi D." last="Notarangelo">Luigi D. Notarangelo</name><affiliation><nlm:aff>NONE</nlm:aff></affiliation></author><author><name sortKey="Walter, Jolan E" sort="Walter, Jolan E" uniqKey="Walter J" first="Jolan E." last="Walter">Jolan E. Walter</name><affiliation><nlm:aff>NONE</nlm:aff></affiliation><affiliation><nlm:aff>NONE</nlm:aff></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">30877075</idno><idno type="pmc">6612449</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6612449</idno><idno type="RBID">PMC:6612449</idno><idno type="doi">10.1016/j.jaip.2019.02.038</idno><date when="2019">2019</date><idno type="wicri:Area/Pmc/Corpus">000147</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">000147</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Outcomes and treatment strategies for autoimmunity and hyperinflammation in patients with RAG deficiency.</title><author><name sortKey="Farmer, Jocelyn R" sort="Farmer, Jocelyn R" uniqKey="Farmer J" first="Jocelyn R." last="Farmer">Jocelyn R. Farmer</name><affiliation><nlm:aff>NONE</nlm:aff></affiliation></author><author><name sortKey="Foldvari, Zsofia" sort="Foldvari, Zsofia" uniqKey="Foldvari Z" first="Zsofia" last="Foldvari">Zsofia Foldvari</name><affiliation><nlm:aff>NONE</nlm:aff></affiliation></author><author><name sortKey="Ujhazi, Boglarka" sort="Ujhazi, Boglarka" uniqKey="Ujhazi B" first="Boglarka" last="Ujhazi">Boglarka Ujhazi</name><affiliation><nlm:aff>NONE</nlm:aff></affiliation></author><author><name sortKey="De Ravin, Suk See" sort="De Ravin, Suk See" uniqKey="De Ravin S" first="Suk See" last="De Ravin">Suk See De Ravin</name><affiliation><nlm:aff>NONE</nlm:aff></affiliation></author><author><name sortKey="Chen, Karin" sort="Chen, Karin" uniqKey="Chen K" first="Karin" last="Chen">Karin Chen</name><affiliation><nlm:aff>NONE</nlm:aff></affiliation></author><author><name sortKey="Bleesing, Jack J H" sort="Bleesing, Jack J H" uniqKey="Bleesing J" first="Jack J. H." last="Bleesing">Jack J. H. Bleesing</name><affiliation><nlm:aff>NONE</nlm:aff></affiliation></author><author><name sortKey="Schuetz, Catharina" sort="Schuetz, Catharina" uniqKey="Schuetz C" first="Catharina" last="Schuetz">Catharina Schuetz</name><affiliation><nlm:aff>NONE</nlm:aff></affiliation></author><author><name sortKey="Al Herz, Waleed" sort="Al Herz, Waleed" uniqKey="Al Herz W" first="Waleed" last="Al-Herz">Waleed Al-Herz</name><affiliation><nlm:aff>NONE</nlm:aff></affiliation><affiliation><nlm:aff>NONE</nlm:aff></affiliation></author><author><name sortKey="Abraham, Roshini Sarah" sort="Abraham, Roshini Sarah" uniqKey="Abraham R" first="Roshini Sarah" last="Abraham">Roshini Sarah Abraham</name><affiliation><nlm:aff>NONE</nlm:aff></affiliation><affiliation><nlm:aff>NONE</nlm:aff></affiliation></author><author><name sortKey="Joshi, Avni Y" sort="Joshi, Avni Y" uniqKey="Joshi A" first="Avni Y." last="Joshi">Avni Y. Joshi</name><affiliation><nlm:aff>NONE</nlm:aff></affiliation></author><author><name sortKey="Costa Carvalho, Beatriz T" sort="Costa Carvalho, Beatriz T" uniqKey="Costa Carvalho B" first="Beatriz T." last="Costa-Carvalho">Beatriz T. Costa-Carvalho</name><affiliation><nlm:aff>NONE</nlm:aff></affiliation></author><author><name sortKey="Buchbinder, David" sort="Buchbinder, David" uniqKey="Buchbinder D" first="David" last="Buchbinder">David Buchbinder</name><affiliation><nlm:aff>NONE</nlm:aff></affiliation></author><author><name sortKey="Booth, Claire" sort="Booth, Claire" uniqKey="Booth C" first="Claire" last="Booth">Claire Booth</name><affiliation><nlm:aff>NONE</nlm:aff></affiliation></author><author><name sortKey="Reiff, Andreas" sort="Reiff, Andreas" uniqKey="Reiff A" first="Andreas" last="Reiff">Andreas Reiff</name><affiliation><nlm:aff>NONE</nlm:aff></affiliation></author><author><name sortKey="Ferguson, Polly J" sort="Ferguson, Polly J" uniqKey="Ferguson P" first="Polly J." last="Ferguson">Polly J. Ferguson</name><affiliation><nlm:aff>NONE</nlm:aff></affiliation></author><author><name sortKey="Aghamohammadi, Asghar" sort="Aghamohammadi, Asghar" uniqKey="Aghamohammadi A" first="Asghar" last="Aghamohammadi">Asghar Aghamohammadi</name><affiliation><nlm:aff>NONE</nlm:aff></affiliation></author><author><name sortKey="Abolhassani, Hassan" sort="Abolhassani, Hassan" uniqKey="Abolhassani H" first="Hassan" last="Abolhassani">Hassan Abolhassani</name><affiliation><nlm:aff>NONE</nlm:aff></affiliation></author><author><name sortKey="Puck, Jennifer M" sort="Puck, Jennifer M" uniqKey="Puck J" first="Jennifer M." last="Puck">Jennifer M. Puck</name><affiliation><nlm:aff>NONE</nlm:aff></affiliation></author><author><name sortKey="Adeli, Mehdi" sort="Adeli, Mehdi" uniqKey="Adeli M" first="Mehdi" last="Adeli">Mehdi Adeli</name><affiliation><nlm:aff>NONE</nlm:aff></affiliation></author><author><name sortKey="Cancrini, Caterina" sort="Cancrini, Caterina" uniqKey="Cancrini C" first="Caterina" last="Cancrini">Caterina Cancrini</name><affiliation><nlm:aff>NONE</nlm:aff></affiliation><affiliation><nlm:aff>NONE</nlm:aff></affiliation></author><author><name sortKey="Palma, Paolo" sort="Palma, Paolo" uniqKey="Palma P" first="Paolo" last="Palma">Paolo Palma</name><affiliation><nlm:aff>NONE</nlm:aff></affiliation></author><author><name sortKey="Bertaina, Alice" sort="Bertaina, Alice" uniqKey="Bertaina A" first="Alice" last="Bertaina">Alice Bertaina</name><affiliation><nlm:aff>NONE</nlm:aff></affiliation></author><author><name sortKey="Locatelli, Franco" sort="Locatelli, Franco" uniqKey="Locatelli F" first="Franco" last="Locatelli">Franco Locatelli</name><affiliation><nlm:aff>NONE</nlm:aff></affiliation><affiliation><nlm:aff>NONE</nlm:aff></affiliation></author><author><name sortKey="Di Matteo, Gigliola" sort="Di Matteo, Gigliola" uniqKey="Di Matteo G" first="Gigliola" last="Di Matteo">Gigliola Di Matteo</name><affiliation><nlm:aff>NONE</nlm:aff></affiliation><affiliation><nlm:aff>NONE</nlm:aff></affiliation></author><author><name sortKey="Geha, Raif S" sort="Geha, Raif S" uniqKey="Geha R" first="Raif S." last="Geha">Raif S. Geha</name><affiliation><nlm:aff>NONE</nlm:aff></affiliation></author><author><name sortKey="Kanariou, Maria G" sort="Kanariou, Maria G" uniqKey="Kanariou M" first="Maria G." last="Kanariou">Maria G. Kanariou</name><affiliation><nlm:aff>NONE</nlm:aff></affiliation></author><author><name sortKey="Lycopoulou, Evangelia" sort="Lycopoulou, Evangelia" uniqKey="Lycopoulou E" first="Evangelia" last="Lycopoulou">Evangelia Lycopoulou</name><affiliation><nlm:aff>NONE</nlm:aff></affiliation></author><author><name sortKey="Tzanoudaki, Marianna" sort="Tzanoudaki, Marianna" uniqKey="Tzanoudaki M" first="Marianna" last="Tzanoudaki">Marianna Tzanoudaki</name><affiliation><nlm:aff>NONE</nlm:aff></affiliation></author><author><name sortKey="Sleasman, John W" sort="Sleasman, John W" uniqKey="Sleasman J" first="John W." last="Sleasman">John W. Sleasman</name><affiliation><nlm:aff>NONE</nlm:aff></affiliation></author><author><name sortKey="Parikh, Suhag" sort="Parikh, Suhag" uniqKey="Parikh S" first="Suhag" last="Parikh">Suhag Parikh</name><affiliation><nlm:aff>NONE</nlm:aff></affiliation></author><author><name sortKey="Pinero, Gloria" sort="Pinero, Gloria" uniqKey="Pinero G" first="Gloria" last="Pinero">Gloria Pinero</name><affiliation><nlm:aff>NONE</nlm:aff></affiliation></author><author><name sortKey="Fischer, Bernard M" sort="Fischer, Bernard M" uniqKey="Fischer B" first="Bernard M." last="Fischer">Bernard M. Fischer</name><affiliation><nlm:aff>NONE</nlm:aff></affiliation></author><author><name sortKey="Dbaibo, Ghassan" sort="Dbaibo, Ghassan" uniqKey="Dbaibo G" first="Ghassan" last="Dbaibo">Ghassan Dbaibo</name><affiliation><nlm:aff>NONE</nlm:aff></affiliation></author><author><name sortKey="Unal, Ekrem" sort="Unal, Ekrem" uniqKey="Unal E" first="Ekrem" last="Unal">Ekrem Unal</name><affiliation><nlm:aff>NONE</nlm:aff></affiliation></author><author><name sortKey="Patiroglu, Turkan" sort="Patiroglu, Turkan" uniqKey="Patiroglu T" first="Turkan" last="Patiroglu">Turkan Patiroglu</name><affiliation><nlm:aff>NONE</nlm:aff></affiliation><affiliation><nlm:aff>NONE</nlm:aff></affiliation></author><author><name sortKey="Karakukcu, Musa" sort="Karakukcu, Musa" uniqKey="Karakukcu M" first="Musa" last="Karakukcu">Musa Karakukcu</name><affiliation><nlm:aff>NONE</nlm:aff></affiliation></author><author><name sortKey="Al Saad, Khulood Khalifa" sort="Al Saad, Khulood Khalifa" uniqKey="Al Saad K" first="Khulood Khalifa" last="Al-Saad">Khulood Khalifa Al-Saad</name><affiliation><nlm:aff>NONE</nlm:aff></affiliation></author><author><name sortKey="Dilley, Meredith A" sort="Dilley, Meredith A" uniqKey="Dilley M" first="Meredith A." last="Dilley">Meredith A. Dilley</name><affiliation><nlm:aff>NONE</nlm:aff></affiliation></author><author><name sortKey="Pai, Sung Yun" sort="Pai, Sung Yun" uniqKey="Pai S" first="Sung-Yun" last="Pai">Sung-Yun Pai</name><affiliation><nlm:aff>NONE</nlm:aff></affiliation><affiliation><nlm:aff>NONE</nlm:aff></affiliation><affiliation><nlm:aff>NONE</nlm:aff></affiliation></author><author><name sortKey="Dutmer, Cullen M" sort="Dutmer, Cullen M" uniqKey="Dutmer C" first="Cullen M." last="Dutmer">Cullen M. Dutmer</name><affiliation><nlm:aff>NONE</nlm:aff></affiliation></author><author><name sortKey="Gelfand, Erwin W" sort="Gelfand, Erwin W" uniqKey="Gelfand E" first="Erwin W." last="Gelfand">Erwin W. Gelfand</name><affiliation><nlm:aff>NONE</nlm:aff></affiliation></author><author><name sortKey="Geier, Christoph B" sort="Geier, Christoph B" uniqKey="Geier C" first="Christoph B." last="Geier">Christoph B. Geier</name><affiliation><nlm:aff>NONE</nlm:aff></affiliation></author><author><name sortKey="Eibl, Martha M" sort="Eibl, Martha M" uniqKey="Eibl M" first="Martha M." last="Eibl">Martha M. Eibl</name><affiliation><nlm:aff>NONE</nlm:aff></affiliation><affiliation><nlm:aff>NONE</nlm:aff></affiliation></author><author><name sortKey="Wolf, Hermann M" sort="Wolf, Hermann M" uniqKey="Wolf H" first="Hermann M." last="Wolf">Hermann M. Wolf</name><affiliation><nlm:aff>NONE</nlm:aff></affiliation><affiliation><nlm:aff>NONE</nlm:aff></affiliation></author><author><name sortKey="Henderson, Lauren A" sort="Henderson, Lauren A" uniqKey="Henderson L" first="Lauren A." last="Henderson">Lauren A. Henderson</name><affiliation><nlm:aff>NONE</nlm:aff></affiliation></author><author><name sortKey="Hazen, Melissa M" sort="Hazen, Melissa M" uniqKey="Hazen M" first="Melissa M." last="Hazen">Melissa M. Hazen</name><affiliation><nlm:aff>NONE</nlm:aff></affiliation></author><author><name sortKey="Bonfim, Carmem" sort="Bonfim, Carmem" uniqKey="Bonfim C" first="Carmem" last="Bonfim">Carmem Bonfim</name><affiliation><nlm:aff>NONE</nlm:aff></affiliation></author><author><name sortKey="Wolska Ku Nierz, Beata" sort="Wolska Ku Nierz, Beata" uniqKey="Wolska Ku Nierz B" first="Beata" last="Wolska-Ku Nierz">Beata Wolska-Ku Nierz</name><affiliation><nlm:aff>NONE</nlm:aff></affiliation></author><author><name sortKey="Butte, Manish J" sort="Butte, Manish J" uniqKey="Butte M" first="Manish J." last="Butte">Manish J. Butte</name><affiliation><nlm:aff>NONE</nlm:aff></affiliation></author><author><name sortKey="Hernandez, Joseph D" sort="Hernandez, Joseph D" uniqKey="Hernandez J" first="Joseph D." last="Hernandez">Joseph D. Hernandez</name><affiliation><nlm:aff>NONE</nlm:aff></affiliation></author><author><name sortKey="Nicholas, Sarah K" sort="Nicholas, Sarah K" uniqKey="Nicholas S" first="Sarah K." last="Nicholas">Sarah K. Nicholas</name><affiliation><nlm:aff>NONE</nlm:aff></affiliation></author><author><name sortKey="Stepensky, Polina" sort="Stepensky, Polina" uniqKey="Stepensky P" first="Polina" last="Stepensky">Polina Stepensky</name><affiliation><nlm:aff>NONE</nlm:aff></affiliation></author><author><name sortKey="Chandrakasan, Shanmuganathan" sort="Chandrakasan, Shanmuganathan" uniqKey="Chandrakasan S" first="Shanmuganathan" last="Chandrakasan">Shanmuganathan Chandrakasan</name><affiliation><nlm:aff>NONE</nlm:aff></affiliation></author><author><name sortKey="Miano, Maurizio" sort="Miano, Maurizio" uniqKey="Miano M" first="Maurizio" last="Miano">Maurizio Miano</name><affiliation><nlm:aff>NONE</nlm:aff></affiliation></author><author><name sortKey="Westermann Clark, Emma" sort="Westermann Clark, Emma" uniqKey="Westermann Clark E" first="Emma" last="Westermann-Clark">Emma Westermann-Clark</name><affiliation><nlm:aff>NONE</nlm:aff></affiliation></author><author><name sortKey="Goda, Vera" sort="Goda, Vera" uniqKey="Goda V" first="Vera" last="Goda">Vera Goda</name><affiliation><nlm:aff>NONE</nlm:aff></affiliation></author><author><name sortKey="Krivan, Gergely" sort="Krivan, Gergely" uniqKey="Krivan G" first="Gergely" last="Kriván">Gergely Kriván</name><affiliation><nlm:aff>NONE</nlm:aff></affiliation></author><author><name sortKey="Holland, Steven M" sort="Holland, Steven M" uniqKey="Holland S" first="Steven M." last="Holland">Steven M. Holland</name><affiliation><nlm:aff>NONE</nlm:aff></affiliation></author><author><name sortKey="Fadugba, Olajumoke" sort="Fadugba, Olajumoke" uniqKey="Fadugba O" first="Olajumoke" last="Fadugba">Olajumoke Fadugba</name><affiliation><nlm:aff>NONE</nlm:aff></affiliation></author><author><name sortKey="Henrickson, Sarah E" sort="Henrickson, Sarah E" uniqKey="Henrickson S" first="Sarah E" last="Henrickson">Sarah E. Henrickson</name><affiliation><nlm:aff>NONE</nlm:aff></affiliation><affiliation><nlm:aff>NONE</nlm:aff></affiliation></author><author><name sortKey="Ozen, Ahmet" sort="Ozen, Ahmet" uniqKey="Ozen A" first="Ahmet" last="Ozen">Ahmet Ozen</name><affiliation><nlm:aff>NONE</nlm:aff></affiliation></author><author><name sortKey="Karakoc Aydiner, Elif" sort="Karakoc Aydiner, Elif" uniqKey="Karakoc Aydiner E" first="Elif" last="Karakoc-Aydiner">Elif Karakoc-Aydiner</name><affiliation><nlm:aff>NONE</nlm:aff></affiliation></author><author><name sortKey="Baris, Safa" sort="Baris, Safa" uniqKey="Baris S" first="Safa" last="Baris">Safa Baris</name><affiliation><nlm:aff>NONE</nlm:aff></affiliation></author><author><name sortKey="Kiykim, Ayca" sort="Kiykim, Ayca" uniqKey="Kiykim A" first="Ayca" last="Kiykim">Ayca Kiykim</name><affiliation><nlm:aff>NONE</nlm:aff></affiliation></author><author><name sortKey="Bredius, Robbert" sort="Bredius, Robbert" uniqKey="Bredius R" first="Robbert" last="Bredius">Robbert Bredius</name><affiliation><nlm:aff>NONE</nlm:aff></affiliation></author><author><name sortKey="Hoeger, Birgit" sort="Hoeger, Birgit" uniqKey="Hoeger B" first="Birgit" last="Hoeger">Birgit Hoeger</name><affiliation><nlm:aff>NONE</nlm:aff></affiliation><affiliation><nlm:aff>NONE</nlm:aff></affiliation></author><author><name sortKey="Boztug, Kaan" sort="Boztug, Kaan" uniqKey="Boztug K" first="Kaan" last="Boztug">Kaan Boztug</name><affiliation><nlm:aff>NONE</nlm:aff></affiliation><affiliation><nlm:aff>NONE</nlm:aff></affiliation><affiliation><nlm:aff>NONE</nlm:aff></affiliation><affiliation><nlm:aff>NONE</nlm:aff></affiliation></author><author><name sortKey="Pashchenko, Olga" sort="Pashchenko, Olga" uniqKey="Pashchenko O" first="Olga" last="Pashchenko">Olga Pashchenko</name><affiliation><nlm:aff>NONE</nlm:aff></affiliation></author><author><name sortKey="Neven, Benedicte" sort="Neven, Benedicte" uniqKey="Neven B" first="Benedicte" last="Neven">Benedicte Neven</name><affiliation><nlm:aff>NONE</nlm:aff></affiliation><affiliation><nlm:aff>NONE</nlm:aff></affiliation><affiliation><nlm:aff>NONE</nlm:aff></affiliation></author><author><name sortKey="Moshous, Despina" sort="Moshous, Despina" uniqKey="Moshous D" first="Despina" last="Moshous">Despina Moshous</name><affiliation><nlm:aff>NONE</nlm:aff></affiliation><affiliation><nlm:aff>NONE</nlm:aff></affiliation><affiliation><nlm:aff>NONE</nlm:aff></affiliation></author><author><name sortKey="De Villartay, Jean Pierre" sort="De Villartay, Jean Pierre" uniqKey="De Villartay J" first="Jean-Pierre" last="De Villartay">Jean-Pierre De Villartay</name><affiliation><nlm:aff>NONE</nlm:aff></affiliation></author><author><name sortKey="Bousfiha, Ahmed Aziz" sort="Bousfiha, Ahmed Aziz" uniqKey="Bousfiha A" first="Ahmed Aziz" last="Bousfiha">Ahmed Aziz Bousfiha</name><affiliation><nlm:aff>NONE</nlm:aff></affiliation></author><author><name sortKey="Hill, Harry R" sort="Hill, Harry R" uniqKey="Hill H" first="Harry R." last="Hill">Harry R. Hill</name><affiliation><nlm:aff>NONE</nlm:aff></affiliation></author><author><name sortKey="Notarangelo, Luigi D" sort="Notarangelo, Luigi D" uniqKey="Notarangelo L" first="Luigi D." last="Notarangelo">Luigi D. Notarangelo</name><affiliation><nlm:aff>NONE</nlm:aff></affiliation></author><author><name sortKey="Walter, Jolan E" sort="Walter, Jolan E" uniqKey="Walter J" first="Jolan E." last="Walter">Jolan E. Walter</name><affiliation><nlm:aff>NONE</nlm:aff></affiliation><affiliation><nlm:aff>NONE</nlm:aff></affiliation></author></analytic><series><title level="j">The journal of allergy and clinical immunology. In practice</title><idno type="ISSN">2213-2198</idno><idno type="eISSN">2213-2201</idno><imprint><date when="2019">2019</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><sec id="S1"><title>Background:</title><p id="P5">While autoimmunity and hyperinflammation secondary to recombinase activating gene (RAG) deficiency have been associated with delayed diagnosis and even death, our current understanding is limited primarily to small case series.</p></sec><sec id="S2"><title>Objective:</title><p id="P6">Understand the frequency, severity, and treatment responsiveness of autoimmunity and hyperinflammation in RAG deficiency.</p></sec><sec id="S3"><title>Methods:</title><p id="P7">In reviewing the literature and our own database, we identified 85 patients with RAG deficiency, reported between 2001 and 2016, and compiled the largest case series to date of 63 patients with prominent autoimmune and/or hyperinflammatory pathology.</p></sec><sec id="S4"><title>Results:</title><p id="P8">Diagnosis of RAG deficiency was delayed a median of 5 years from the first clinical signs of immune dysregulation. The majority of patients (55.6%) presented with more than one autoimmune or hyperinflammatory complication, with the most common etiologies being cytopenias (84.1%), granulomas (23.8%), and inflammatory skin disorders (19.0%). Infections, including live viral vaccinations, closely preceded the onset of autoimmunity in 28.6% of cases. Autoimmune cytopenias had early onset (median 1.9, 2.1, and 2.6 years for autoimmune hemolytic anemia (AIHA), immune thrombocytopenia (ITP) and autoimmune neutropenia (AN), respectively) and were refractory to intravenous immunoglobulin, steroids, and rituximab in the majority of cases (64.7%, 73.7%, and 71.4% for AIHA, ITP, and AN, respectively). Evans syndrome specifically was associated with lack of response to first-line therapy. Treatment-refractory autoimmunity/hyperinflammation prompted hematopoietic stem cell transplantation in 20 patients.</p></sec><sec id="S5"><title>Conclusions:</title><p id="P9">Autoimmunity/hyperinflammation can be a presenting sign of RAG deficiency and should prompt further evaluation. Multi-lineage cytopenias are often refractory to immunosuppressive treatment and may require hematopoietic cell transplantation for definitive management.</p></sec></div></front></TEI><pmc article-type="research-article"><pmc-comment>The publisher of this article does not allow downloading of the full text in XML form.</pmc-comment>
<pmc-dir>properties manuscript</pmc-dir>
<front><journal-meta><journal-id journal-id-type="nlm-journal-id">101597220</journal-id><journal-id journal-id-type="pubmed-jr-id">40850</journal-id><journal-id journal-id-type="nlm-ta">J Allergy Clin Immunol Pract</journal-id><journal-id journal-id-type="iso-abbrev">J Allergy Clin Immunol Pract</journal-id><journal-title-group><journal-title>The journal of allergy and clinical immunology. In practice</journal-title></journal-title-group><issn pub-type="ppub">2213-2198</issn><issn pub-type="epub">2213-2201</issn></journal-meta><article-meta><article-id pub-id-type="pmid">30877075</article-id><article-id pub-id-type="pmc">6612449</article-id><article-id pub-id-type="doi">10.1016/j.jaip.2019.02.038</article-id><article-id pub-id-type="manuscript">NIHMS1024055</article-id><article-categories><subj-group subj-group-type="heading"><subject>Article</subject></subj-group></article-categories><title-group><article-title>Outcomes and treatment strategies for autoimmunity and hyperinflammation in patients with RAG deficiency.</article-title></title-group><contrib-group><contrib contrib-type="author"><name><surname>Farmer</surname><given-names>Jocelyn R.</given-names></name><degrees>MD, PhD</degrees><xref ref-type="aff" rid="A1">1</xref><xref rid="FN1" ref-type="author-notes">*</xref></contrib><contrib contrib-type="author"><name><surname>Foldvari</surname><given-names>Zsofia</given-names></name><degrees>MD</degrees><xref ref-type="aff" rid="A2">2</xref><xref rid="FN1" ref-type="author-notes">*</xref></contrib><contrib contrib-type="author"><name><surname>Ujhazi</surname><given-names>Boglarka</given-names></name><degrees>MS</degrees><xref ref-type="aff" rid="A3">3</xref></contrib><contrib contrib-type="author"><name><surname>De Ravin</surname><given-names>Suk See</given-names></name><degrees>MD, PhD</degrees><xref ref-type="aff" rid="A4">4</xref></contrib><contrib contrib-type="author"><name><surname>Chen</surname><given-names>Karin</given-names></name><degrees>MD</degrees><xref ref-type="aff" rid="A5">5</xref></contrib><contrib contrib-type="author"><name><surname>Bleesing</surname><given-names>Jack J.H.</given-names></name><degrees>MD, PhD</degrees><xref ref-type="aff" rid="A6">6</xref></contrib><contrib contrib-type="author"><name><surname>Schuetz</surname><given-names>Catharina</given-names></name><degrees>MD</degrees><xref ref-type="aff" rid="A7">7</xref></contrib><contrib contrib-type="author"><name><surname>Al-Herz</surname><given-names>Waleed</given-names></name><degrees>MD</degrees><xref ref-type="aff" rid="A8">8</xref><xref ref-type="aff" rid="A9">9</xref></contrib><contrib contrib-type="author"><name><surname>Abraham</surname><given-names>Roshini Sarah</given-names></name><degrees>PhD</degrees><xref ref-type="aff" rid="A10">10</xref><xref ref-type="aff" rid="A11">11</xref></contrib><contrib contrib-type="author"><name><surname>Joshi</surname><given-names>Avni Y.</given-names></name><degrees>MD</degrees><xref ref-type="aff" rid="A12">12</xref></contrib><contrib contrib-type="author"><name><surname>Costa-Carvalho</surname><given-names>Beatriz T.</given-names></name><degrees>MD</degrees><xref ref-type="aff" rid="A13">13</xref></contrib><contrib contrib-type="author"><name><surname>Buchbinder</surname><given-names>David</given-names></name><degrees>MD</degrees><xref ref-type="aff" rid="A14">14</xref></contrib><contrib contrib-type="author"><name><surname>Booth</surname><given-names>Claire</given-names></name><degrees>MD, PhD</degrees><xref ref-type="aff" rid="A15">15</xref></contrib><contrib contrib-type="author"><name><surname>Reiff</surname><given-names>Andreas</given-names></name><degrees>MD</degrees><xref ref-type="aff" rid="A16">16</xref></contrib><contrib contrib-type="author"><name><surname>Ferguson</surname><given-names>Polly J.</given-names></name><degrees>MD</degrees><xref ref-type="aff" rid="A17">17</xref></contrib><contrib contrib-type="author"><name><surname>Aghamohammadi</surname><given-names>Asghar</given-names></name><degrees>MD, PhD</degrees><xref ref-type="aff" rid="A18">18</xref></contrib><contrib contrib-type="author"><name><surname>Abolhassani</surname><given-names>Hassan</given-names></name><degrees>MD, PhD</degrees><xref ref-type="aff" rid="A18">18</xref></contrib><contrib contrib-type="author"><name><surname>Puck</surname><given-names>Jennifer M.</given-names></name><degrees>MD</degrees><xref ref-type="aff" rid="A19">19</xref></contrib><contrib contrib-type="author"><name><surname>Adeli</surname><given-names>Mehdi</given-names></name><degrees>MD</degrees><xref ref-type="aff" rid="A20">20</xref></contrib><contrib contrib-type="author"><name><surname>Cancrini</surname><given-names>Caterina</given-names></name><degrees>MD, PhD</degrees><xref ref-type="aff" rid="A21">21</xref><xref ref-type="aff" rid="A22">22</xref></contrib><contrib contrib-type="author"><name><surname>Palma</surname><given-names>Paolo</given-names></name><degrees>MD, PhD</degrees><xref ref-type="aff" rid="A23">23</xref></contrib><contrib contrib-type="author"><name><surname>Bertaina</surname><given-names>Alice</given-names></name><degrees>MD, PhD</degrees><xref ref-type="aff" rid="A24">24</xref></contrib><contrib contrib-type="author"><name><surname>Locatelli</surname><given-names>Franco</given-names></name><degrees>MD, PhD</degrees><xref ref-type="aff" rid="A24">24</xref><xref ref-type="aff" rid="A25">25</xref></contrib><contrib contrib-type="author"><name><surname>Di Matteo</surname><given-names>Gigliola</given-names></name><degrees>BS, PhD</degrees><xref ref-type="aff" rid="A21">21</xref><xref ref-type="aff" rid="A22">22</xref></contrib><contrib contrib-type="author"><name><surname>Geha</surname><given-names>Raif S.</given-names></name><degrees>MD</degrees><xref ref-type="aff" rid="A26">26</xref></contrib><contrib contrib-type="author"><name><surname>Kanariou</surname><given-names>Maria G.</given-names></name><degrees>MD, PhD</degrees><xref ref-type="aff" rid="A27">27</xref></contrib><contrib contrib-type="author"><name><surname>Lycopoulou</surname><given-names>Evangelia</given-names></name><degrees>MD</degrees><xref ref-type="aff" rid="A28">28</xref></contrib><contrib contrib-type="author"><name><surname>Tzanoudaki</surname><given-names>Marianna</given-names></name><degrees>MD, PhD</degrees><xref ref-type="aff" rid="A27">27</xref></contrib><contrib contrib-type="author"><name><surname>Sleasman</surname><given-names>John W.</given-names></name><degrees>MD</degrees><xref ref-type="aff" rid="A29">29</xref></contrib><contrib contrib-type="author"><name><surname>Parikh</surname><given-names>Suhag</given-names></name><degrees>MD</degrees><xref ref-type="aff" rid="A30">30</xref></contrib><contrib contrib-type="author"><name><surname>Pinero</surname><given-names>Gloria</given-names></name><degrees>CCRC</degrees><xref ref-type="aff" rid="A29">29</xref></contrib><contrib contrib-type="author"><name><surname>Fischer</surname><given-names>Bernard M.</given-names></name><degrees>DVM, PhD</degrees><xref ref-type="aff" rid="A29">29</xref></contrib><contrib contrib-type="author"><name><surname>Dbaibo</surname><given-names>Ghassan</given-names></name><degrees>MD, FAAP</degrees><xref ref-type="aff" rid="A31">31</xref></contrib><contrib contrib-type="author"><name><surname>Unal</surname><given-names>Ekrem</given-names></name><degrees>MD</degrees><xref ref-type="aff" rid="A32">32</xref></contrib><contrib contrib-type="author"><name><surname>Patiroglu</surname><given-names>Turkan</given-names></name><degrees>MD</degrees><xref ref-type="aff" rid="A32">32</xref><xref ref-type="aff" rid="A33">33</xref></contrib><contrib contrib-type="author"><name><surname>Karakukcu</surname><given-names>Musa</given-names></name><degrees>MD</degrees><xref ref-type="aff" rid="A32">32</xref></contrib><contrib contrib-type="author"><name><surname>Al-Saad</surname><given-names>Khulood Khalifa</given-names></name><degrees>MD</degrees><xref ref-type="aff" rid="A34">34</xref></contrib><contrib contrib-type="author"><name><surname>Dilley</surname><given-names>Meredith A.</given-names></name><degrees>MD, MPH</degrees><xref ref-type="aff" rid="A35">35</xref></contrib><contrib contrib-type="author"><name><surname>Pai</surname><given-names>Sung-Yun</given-names></name><degrees>MD</degrees><xref ref-type="aff" rid="A36">36</xref><xref ref-type="aff" rid="A37">37</xref><xref ref-type="aff" rid="A38">38</xref></contrib><contrib contrib-type="author"><name><surname>Dutmer</surname><given-names>Cullen M.</given-names></name><degrees>MD</degrees><xref ref-type="aff" rid="A39">39</xref></contrib><contrib contrib-type="author"><name><surname>Gelfand</surname><given-names>Erwin W.</given-names></name><degrees>MD</degrees><xref ref-type="aff" rid="A40">40</xref></contrib><contrib contrib-type="author"><name><surname>Geier</surname><given-names>Christoph B.</given-names></name><degrees>BSC</degrees><xref ref-type="aff" rid="A41">41</xref></contrib><contrib contrib-type="author"><name><surname>Eibl</surname><given-names>Martha M.</given-names></name><degrees>MD</degrees><xref ref-type="aff" rid="A41">41</xref><xref ref-type="aff" rid="A42">42</xref></contrib><contrib contrib-type="author"><name><surname>Wolf</surname><given-names>Hermann M.</given-names></name><degrees>MD</degrees><xref ref-type="aff" rid="A41">41</xref><xref ref-type="aff" rid="A43">43</xref></contrib><contrib contrib-type="author"><name><surname>Henderson</surname><given-names>Lauren A.</given-names></name><degrees>MD, MMSc</degrees><xref ref-type="aff" rid="A44">44</xref></contrib><contrib contrib-type="author"><name><surname>Hazen</surname><given-names>Melissa M.</given-names></name><degrees>MD</degrees><xref ref-type="aff" rid="A44">44</xref></contrib><contrib contrib-type="author"><name><surname>Bonfim</surname><given-names>Carmem</given-names></name><degrees>MD, PhD</degrees><xref ref-type="aff" rid="A45">45</xref></contrib><contrib contrib-type="author"><name><surname>Wolska-Kuśnierz</surname><given-names>Beata</given-names></name><degrees>PhD</degrees><xref ref-type="aff" rid="A46">46</xref></contrib><contrib contrib-type="author"><name><surname>Butte</surname><given-names>Manish J.</given-names></name><degrees>MD, PhD</degrees><xref ref-type="aff" rid="A47">47</xref></contrib><contrib contrib-type="author"><name><surname>Hernandez</surname><given-names>Joseph D.</given-names></name><degrees>MD, PhD</degrees><xref ref-type="aff" rid="A48">48</xref></contrib><contrib contrib-type="author"><name><surname>Nicholas</surname><given-names>Sarah K.</given-names></name><degrees>MD</degrees><xref ref-type="aff" rid="A49">49</xref></contrib><contrib contrib-type="author"><name><surname>Stepensky</surname><given-names>Polina</given-names></name><degrees>MD</degrees><xref ref-type="aff" rid="A50">50</xref></contrib><contrib contrib-type="author"><name><surname>Chandrakasan</surname><given-names>Shanmuganathan</given-names></name><degrees>MD</degrees><xref ref-type="aff" rid="A51">51</xref></contrib><contrib contrib-type="author"><name><surname>Miano</surname><given-names>Maurizio</given-names></name><degrees>MD</degrees><xref ref-type="aff" rid="A52">52</xref></contrib><contrib contrib-type="author"><name><surname>Westermann-Clark</surname><given-names>Emma</given-names></name><degrees>MD</degrees><xref ref-type="aff" rid="A53">53</xref></contrib><contrib contrib-type="author"><name><surname>Goda</surname><given-names>Vera</given-names></name><degrees>MD</degrees><xref ref-type="aff" rid="A54">54</xref></contrib><contrib contrib-type="author"><name><surname>Kriván</surname><given-names>Gergely</given-names></name><degrees>MD, PhD</degrees><xref ref-type="aff" rid="A54">54</xref></contrib><contrib contrib-type="author"><name><surname>Holland</surname><given-names>Steven M.</given-names></name><degrees>MD</degrees><xref ref-type="aff" rid="A55">55</xref></contrib><contrib contrib-type="author"><name><surname>Fadugba</surname><given-names>Olajumoke</given-names></name><degrees>MD</degrees><xref ref-type="aff" rid="A56">56</xref></contrib><contrib contrib-type="author"><name><surname>Henrickson</surname><given-names>Sarah E</given-names></name><degrees>MD, PhD</degrees><xref ref-type="aff" rid="A57">57</xref><xref ref-type="aff" rid="A58">58</xref></contrib><contrib contrib-type="author"><name><surname>Ozen</surname><given-names>Ahmet</given-names></name><degrees>MD</degrees><xref ref-type="aff" rid="A59">59</xref></contrib><contrib contrib-type="author"><name><surname>Karakoc-Aydiner</surname><given-names>Elif</given-names></name><degrees>MD</degrees><xref ref-type="aff" rid="A59">59</xref></contrib><contrib contrib-type="author"><name><surname>Baris</surname><given-names>Safa</given-names></name><degrees>MD</degrees><xref ref-type="aff" rid="A59">59</xref></contrib><contrib contrib-type="author"><name><surname>Kiykim</surname><given-names>Ayca</given-names></name><degrees>MD</degrees><xref ref-type="aff" rid="A60">60</xref></contrib><contrib contrib-type="author"><name><surname>Bredius</surname><given-names>Robbert</given-names></name><degrees>MD, PhD</degrees><xref ref-type="aff" rid="A61">61</xref></contrib><contrib contrib-type="author"><name><surname>Hoeger</surname><given-names>Birgit</given-names></name><degrees>PhD</degrees><xref ref-type="aff" rid="A62">62</xref><xref ref-type="aff" rid="A63">63</xref></contrib><contrib contrib-type="author"><name><surname>Boztug</surname><given-names>Kaan</given-names></name><degrees>MD</degrees><xref ref-type="aff" rid="A62">62</xref><xref ref-type="aff" rid="A63">63</xref><xref ref-type="aff" rid="A64">64</xref><xref ref-type="aff" rid="A65">65</xref></contrib><contrib contrib-type="author"><name><surname>Pashchenko</surname><given-names>Olga</given-names></name><degrees>MD, PhD</degrees><xref ref-type="aff" rid="A66">66</xref></contrib><contrib contrib-type="author"><name><surname>Neven</surname><given-names>Benedicte</given-names></name><degrees>MD, PhD</degrees><xref ref-type="aff" rid="A67">67</xref><xref ref-type="aff" rid="A68">68</xref><xref ref-type="aff" rid="A69">69</xref></contrib><contrib contrib-type="author"><name><surname>Moshous</surname><given-names>Despina</given-names></name><degrees>MD, PhD</degrees><xref ref-type="aff" rid="A67">67</xref><xref ref-type="aff" rid="A68">68</xref><xref ref-type="aff" rid="A70">70</xref></contrib><contrib contrib-type="author"><name><surname>de Villartay</surname><given-names>Jean-Pierre</given-names></name><degrees>PhD</degrees><xref ref-type="aff" rid="A70">70</xref></contrib><contrib contrib-type="author"><name><surname>Bousfiha</surname><given-names>Ahmed Aziz</given-names></name><degrees>MD</degrees><xref ref-type="aff" rid="A71">71</xref></contrib><contrib contrib-type="author"><name><surname>Hill</surname><given-names>Harry R.</given-names></name><degrees>MD</degrees><xref ref-type="aff" rid="A72">72</xref></contrib><contrib contrib-type="author"><name><surname>Notarangelo</surname><given-names>Luigi D.</given-names></name><degrees>MD</degrees><xref ref-type="aff" rid="A55">55</xref><xref rid="FN2" ref-type="author-notes">**</xref></contrib><contrib contrib-type="author"><name><surname>Walter</surname><given-names>Jolan E.</given-names></name><degrees>MD, PhD</degrees><xref ref-type="aff" rid="A3">3</xref><xref ref-type="aff" rid="A73">73</xref><xref rid="FN2" ref-type="author-notes">**</xref></contrib></contrib-group><aff id="A1"><label>1.</label>Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA</aff><aff id="A2"><label>2.</label>Department of Cancer Immunology, Institute for Cancer Research, Oslo University Hospital, Radiumhospitalet, Norway</aff><aff id="A3"><label>3.</label>University of South Florida and Johns Hopkins All Children’s Hospital, Saint Petersburg, FL, USA</aff><aff id="A4"><label>4.</label>Laboratory of Host Defenses, National Institutes of Allergy and Infectious Diseases, NIH, Bethesda, MD, USA</aff><aff id="A5"><label>5.</label>Division of Allergy and Immunology, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, UT, USA</aff><aff id="A6"><label>6.</label>Division of Bone Marrow Transplantation and Immune Deficiency, Cancer and Blood Diseases Institute, Cincinnati Children’s Hospital Medical Center, Cincinnati, OH, USA</aff><aff id="A7"><label>7.</label>Ulm University Medical Center, Pediatrics, Ulm, Germany</aff><aff id="A8"><label>8.</label>Pediatrics Department, Faculty of Medicine, Kuwait University, Kuwait</aff><aff id="A9"><label>9.</label>Allergy and Clinical Immunology Unit, Pediatrics Department, Alsabah Hospital, Kuwait</aff><aff id="A10"><label>10.</label>Department of Pathology and Laboratory Medicine, Nationwide Children’s Hospital, Columbus, OH, USA</aff><aff id="A11"><label>11.</label>Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA</aff><aff id="A12"><label>12.</label>Division of Pediatric Allergy/Immunology, Mayo Clinic Children’s Center Rochester, MN, USA</aff><aff id="A13"><label>13.</label>Department of Pediatrics - UNIFESP-EPM, Sao Paulo, Brazil</aff><aff id="A14"><label>14.</label>Pediatrics / Hematology, CHOC Children’s Hospital - UC Irvine, Irvine, CA, USA</aff><aff id="A15"><label>15.</label>Department of Paediatric Immunology, Great Ormond Street Hospital, London, UK</aff><aff id="A16"><label>16.</label>Division of Rheumatology, Children’s Hospital Los Angeles, Keck School of Medicine, USC, Los Angeles, CA, USA</aff><aff id="A17"><label>17.</label>Department of Pediatrics, University of Iowa Carver College of Medicine, Iowa City, IA, USA</aff><aff id="A18"><label>18.</label>Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children’s Medical Center, Tehran University of Medical Sciences, Tehran, Iran</aff><aff id="A19"><label>19.</label>Department of Pediatrics, University of California San Francisco and UCSF Benioff Children’s Hospital, San Francisco, CA, USA</aff><aff id="A20"><label>20.</label>Sidra Medicine, Weill Cornell Medicine - Qatar and Hamad Medical Corporation, Doha, Qatar</aff><aff id="A21"><label>21.</label>Academic Department of Pediatrics (DPUO), Unit of Immune and Infectious Diseases, Childrens’ Hospital Bambino Gesù, Rome, Italy</aff><aff id="A22"><label>22.</label>Department of Systems Medicine, University of Rome Tor Vergata, Rome, Italy</aff><aff id="A23"><label>23.</label>Academic Department of Pediatrics (DPUO), Research Unit in Congenital and Perinatal Infection, Children’s Hospital Bambino Gesù, Rome, Italy</aff><aff id="A24"><label>24.</label>Department of Pediatrics, Sapienza, University of Rome, Rome, Italy</aff><aff id="A25"><label>25.</label>Department of Pediatric Hematology and Oncology, (IRCCS), IRCCS Ospedale Pediatrico Bambino Gesù, Rome, Italy</aff><aff id="A26"><label>26.</label>Immunology Division, Department of Pediatrics, Boston Children’s Hospital, Harvard Medical School, Boston, MA, USA</aff><aff id="A27"><label>27.</label>Department of Immunology and Histocompatibility, Specialized Center and Referral Center for Primary Immunodeficiencies, Pediatric Immunology, Aghia Sophia Children’s Hospital, Athens, Greece</aff><aff id="A28"><label>28.</label>1st Department of Pediatrics, University of Athens, Aghia Sofia Children’s Hospital, Athens, Greece</aff><aff id="A29"><label>29.</label>Division of Allergy, Immunology and Pulmonary Medicine, Duke University School of Medicine, Durham, NC, USA</aff><aff id="A30"><label>30.</label>Division of Pediatric Blood and Marrow Transplantation, Duke University School of Medicine, Durham, NC, USA</aff><aff id="A31"><label>31.</label>Department of Pediatrics and Adolescent Medicine, Center for Infectious Diseases Research, American University of Beirut, Beirut, Lebanon</aff><aff id="A32"><label>32.</label>Division of Pediatric Hematology and Oncology & HCST Unit, Department of Pediatrics, Faculty of Medicine, Erciyes University, Kayseri, Turkey</aff><aff id="A33"><label>33.</label>Division of Pediatric Immunology, Department of Pediatrics, Faculty of Medicine, Erciyes University, Kayseri, Turkey</aff><aff id="A34"><label>34.</label>Salmaniya Medical Complex, Department of Pediatrics, Division of Pediatric Hematology and Oncology Clinic, Kingdom of Bahrain</aff><aff id="A35"><label>35.</label>Department of Immunology, Boston Children’s Hospital, Harvard Medical School, Boston, MA, USA</aff><aff id="A36"><label>36.</label>Division of Hematology-Oncology, Boston Children’s Hospital, Harvard Medical School, Boston, MA, USA</aff><aff id="A37"><label>37.</label>Dana-Farber Cancer Institute, Boston, MA, USA</aff><aff id="A38"><label>38.</label>Harvard Medical School, Boston, MA, USA</aff><aff id="A39"><label>39.</label>Division of Allergy & Immunology, Children’s Hospital Colorado, University of Colorado School of Medicine, Aurora, CO, USA</aff><aff id="A40"><label>40.</label>Department of Pediatrics, National Jewish Health, Denver, CO, USA</aff><aff id="A41"><label>41.</label>Immunology Outpatient Clinic, Vienna, Austria</aff><aff id="A42"><label>42.</label>Biomedizinische Forschungs GmbH, Vienna, Austria</aff><aff id="A43"><label>43.</label>Sigmund Freud Private University- Medical School, Vienna, Austria</aff><aff id="A44"><label>44.</label>Division of Immunology, Boston Children’s Hospital, Harvard Medical School, Boston, MA, USA</aff><aff id="A45"><label>45.</label>Hospital Infantil Pequeno Principe, Curitiba, Brazil</aff><aff id="A46"><label>46.</label>Immunology Department Children’s Memorial Health Institute, Warsaw, Poland</aff><aff id="A47"><label>47.</label>Division of Immunology, Allergy, and Rheumatology, Department of Pediatrics and Jeffrey Modell Diagnostic and Research Center, University of California, Los Angeles, Los Angeles, CA, USA</aff><aff id="A48"><label>48.</label>Department of Pediatrics, Division of Allergy, Immunology and Rheumatology, Stanford University, Stanford, CA, USA</aff><aff id="A49"><label>49.</label>Section of Immunology, Allergy, and Rheumatology, Baylor College of Medicine, Texas Children’s Hospital, Huston, TX, USA</aff><aff id="A50"><label>50.</label>Department of Bone Marrow Transplantation, Hadassah Hebrew University Hospital, Jerusalem, Israel</aff><aff id="A51"><label>51.</label>Division of Bone Marrow Transplant, Aflac Cancer and Blood Disorders Center, Children’s Healthcare of Atlanta, Emory University School of Medicine, Atlanta, GA, USA</aff><aff id="A52"><label>52.</label>Haematology Unit, Department of Pediatric Haematology-Oncology, IRCCS Istituto Giannina Gaslini, Genova, Italy</aff><aff id="A53"><label>53.</label>Department of Internal Medicine, Division of Allergy/Immunology, University of South Florida Morsani College of Medicine, Tampa, Florida, USA</aff><aff id="A54"><label>54.</label>Department of Pediatric Hematology and Stem Cell Transplantation, United Saint Istvan and Saint Laszlo Hospital, Budapest, Hungary</aff><aff id="A55"><label>55.</label>Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, NIH, Bethesda, MD, USA</aff><aff id="A56"><label>56.</label>Division of Pulmonary, Allergy and Critical Care, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA</aff><aff id="A57"><label>57.</label>Allergy Immunology Division, Department of Pediatrics, The Children’s Hospital of Philadelphia, Philadelphia, PA, USA</aff><aff id="A58"><label>58.</label>Institute for Immunology, the University of Pennsylvania, Philadelphia, PA, USA</aff><aff id="A59"><label>59.</label>Marmara University School of Medicine, Istanbul, Turkey</aff><aff id="A60"><label>60.</label>Ministry of Health, Marmara University Pendik Training and Research Hospital, Istanbul, Turkey</aff><aff id="A61"><label>61.</label>Department of Pediatrics, Section Pediatric Immunology, Infections and Stem Cell Transplantation, Leiden University Medical Center, Leiden, Netherlands</aff><aff id="A62"><label>62.</label>Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases, Vienna, Austria</aff><aff id="A63"><label>63.</label>CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna, Austria</aff><aff id="A64"><label>64.</label>St. Anna Kinderspital and Children’s Cancer Research Institute, Department of Pediatrics, Medical University of Vienna, Vienna, Austria</aff><aff id="A65"><label>65.</label>Department of Pediatrics and Adolescent Medicine, Medical University of Vienna, Vienna, Austria</aff><aff id="A66"><label>66.</label>Department of Immunology, Pirogov Russian National Research Medical University, Russian Clinical Children’s Hospital, Moscow, Russia</aff><aff id="A67"><label>67.</label>Paris Descartes-Sorbonne Paris Cité University, Imagine Institute, Paris, France</aff><aff id="A68"><label>68.</label>Pediatric Hematology-Immunology and Rheumatology Unit, Necker-Enfants Malades University Hospital, Assistance Publique-Hôpitaux de Paris, Paris, France</aff><aff id="A69"><label>69.</label>Laboratory “Immunogenetics of Pediatric autoimmune diseases”, INSERM UMR1163, Université Paris Descartes Sorbonne Paris Cité, Institut Imagine, Paris, France</aff><aff id="A70"><label>70.</label>Laboratory “Genome Dynamics in The Immune System”, INSERM UMR1163, Université Paris Descartes Sorbonne Paris Cité, Institut Imagine, Paris, France</aff><aff id="A71"><label>71.</label>Pediatric Infectious Diseases Department, Faculty of Medicine and Pharmacy, Hassan II University, Casablanca, Morocco</aff><aff id="A72"><label>72.</label>University of Utah, Salt Lake City, UT, USA</aff><aff id="A73"><label>73.</label>Division of Allergy and Immunology, Massachusetts General Hospital for Children, Boston, MA, USA</aff><author-notes><fn id="FN1"><label>*</label><p id="P1">co-first authors</p></fn><fn id="FN2"><label>**</label><p id="P2">co-senior authors</p></fn><fn fn-type="con" id="FN3"><p id="P3">Authorship Contributions</p><p id="P4">J.R.F wrote the manuscript and performed all data analyses. Z.F. compiled the literature and curated patient databases. J.E.W. and L.D.N. conceived of the project and provided expertise on RAG deficiency. All other contributors consented patients, chart reviewed, and provided detailed information on demographics, immunophenotype, clinical course, and treatment outcomes.</p></fn><corresp id="CR1"><bold>Corresponding Author:</bold> Jolan E. Walter MD PhD, 601 4<sup><bold>th</bold></sup> Street CRI 4008, St Petersburg FL 33701, <email>jolanwalter@health.usf.edu</email>, 727-553-1258</corresp><fn fn-type="COI-statement" id="FN5"><p id="P39">Conflict of Interest Disclosures</p><p id="P40">The authors have no conflicts of interest to disclose regarding the content of this paper.</p></fn></author-notes><pub-date pub-type="nihms-submitted"><day>19</day><month>4</month><year>2019</year></pub-date><pub-date pub-type="epub"><day>12</day><month>3</month><year>2019</year></pub-date><pub-date pub-type="ppub"><season>Jul-Aug</season><year>2019</year></pub-date><pub-date pub-type="pmc-release"><day>07</day><month>7</month><year>2019</year></pub-date><volume>7</volume><issue>6</issue><fpage>1970</fpage><lpage>1985.e4</lpage><pmc-comment>elocation-id from pubmed: 10.1016/j.jaip.2019.02.038</pmc-comment>
<abstract id="ABS1"><sec id="S1"><title>Background:</title><p id="P5">While autoimmunity and hyperinflammation secondary to recombinase activating gene (RAG) deficiency have been associated with delayed diagnosis and even death, our current understanding is limited primarily to small case series.</p></sec><sec id="S2"><title>Objective:</title><p id="P6">Understand the frequency, severity, and treatment responsiveness of autoimmunity and hyperinflammation in RAG deficiency.</p></sec><sec id="S3"><title>Methods:</title><p id="P7">In reviewing the literature and our own database, we identified 85 patients with RAG deficiency, reported between 2001 and 2016, and compiled the largest case series to date of 63 patients with prominent autoimmune and/or hyperinflammatory pathology.</p></sec><sec id="S4"><title>Results:</title><p id="P8">Diagnosis of RAG deficiency was delayed a median of 5 years from the first clinical signs of immune dysregulation. The majority of patients (55.6%) presented with more than one autoimmune or hyperinflammatory complication, with the most common etiologies being cytopenias (84.1%), granulomas (23.8%), and inflammatory skin disorders (19.0%). Infections, including live viral vaccinations, closely preceded the onset of autoimmunity in 28.6% of cases. Autoimmune cytopenias had early onset (median 1.9, 2.1, and 2.6 years for autoimmune hemolytic anemia (AIHA), immune thrombocytopenia (ITP) and autoimmune neutropenia (AN), respectively) and were refractory to intravenous immunoglobulin, steroids, and rituximab in the majority of cases (64.7%, 73.7%, and 71.4% for AIHA, ITP, and AN, respectively). Evans syndrome specifically was associated with lack of response to first-line therapy. Treatment-refractory autoimmunity/hyperinflammation prompted hematopoietic stem cell transplantation in 20 patients.</p></sec><sec id="S5"><title>Conclusions:</title><p id="P9">Autoimmunity/hyperinflammation can be a presenting sign of RAG deficiency and should prompt further evaluation. Multi-lineage cytopenias are often refractory to immunosuppressive treatment and may require hematopoietic cell transplantation for definitive management.</p></sec></abstract><kwd-group><kwd>recombinase activating gene (<italic>RAG</italic>)</kwd><kwd>severe combined immunodeficiency (SCID)</kwd><kwd>immune dysregulation</kwd><kwd>autoimmune cytopenias</kwd><kwd>hematopoietic stem cell transplantation (HSCT)</kwd></kwd-group></article-meta></front></pmc></record>Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Sante/explor/MaghrebDataLibMedV2/Data/Pmc/Corpus
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 000147 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/Pmc/Corpus/biblio.hfd -nk 000147 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien
|wiki= Wicri/Sante
|area= MaghrebDataLibMedV2
|flux= Pmc
|étape= Corpus
|type= RBID
|clé=
|texte=
}}
| This area was generated with Dilib version V0.6.38. |  |