Clinical Features and Outcome of Patients With IRAK-4 and MyD88 Deficiency
Identifieur interne : 006F87 ( Main/Exploration ); précédent : 006F86; suivant : 006F88Clinical Features and Outcome of Patients With IRAK-4 and MyD88 Deficiency
Auteurs : Capucine Picard ; Horst Von Bernuth ; Pegah Ghandil ; Maya Chrabieh ; Ofer Levy ; Peter D. Arkwright ; Douglas Mcdonald ; Raif S. Geha ; Hidetoshi Takada ; Jens C. Krause ; C. Buddy Creech ; Cheng-Lung Ku ; Stephan Ehl ; Asz O Ma Odi ; Saleh Al-Muhsen ; Sami Al-Hajjar ; Abdulaziz Al-Ghonaium ; Noorbibi K. Day-Good ; Steven M. Holland ; John Gallin ; Helen Chapel ; David P. Speert ; Carlos Rodriguez-Gallego ; Elena Colino ; Ben-Zion Garty ; Chaim Roifman ; Toshiro Hara ; Hideto Yoshikawa ; Shigeaki Nonoyama ; Joseph Domachowske ; Andrew C. Issekutz ; Mimi Tang ; Joanne Smart ; Simona Eva Zitnik ; Cyrille Hoarau ; Dinakantha Kumararatne ; Adrian Thrasher ; E. Graham Davies ; Claire Bethune ; Nicolas Sirvent ; Dominique De Ricaud ; Yildiz Camcioglu ; J Ulia Vasconcelos ; Margarida Guedes ; Artur Bonito Vitor ; Carlos Rodrigo ; Francisco Alma An ; Maria Ndez ; Juan Ignacio A Ostegui ; Laia Alsina ; Claudia Fortuny ; Janine Reichenbach ; James W. Verbsky ; Xavier Bossuyt ; Rainer Doffinger ; Laurent Abel ; Anne Puel ; Jean-Laurent CasanovaSource :
- Medicine [ 0025-7974 ] ; 2010.
Abstract
Autosomal recessive interleukin-1 receptor-associated kinase (IRAK)-4 and myeloid differentiation factor (MyD)88 deficiencies impair Toll-like receptor (TLR)- and interleukin-1 receptor-mediated immunity. We documented the clinical features and outcome of 48 patients with IRAK-4 deficiency and 12 patients with MyD88 deficiency, from 37 kindreds in 15 countries. The clinical features of IRAK-4 and MyD88 deficiency were indistinguishable. There were no severe viral, parasitic, and fungal diseases, and the range of bacterial infections was narrow. Noninvasive bacterial infections occurred in 52 patients, with a high incidence of infections of the upper respiratory tract and the skin, mostly caused by
Url:
DOI: 10.1097/MD.0b013e3181fd8ec3
PubMed: 21057262
PubMed Central: 3103888
Affiliations:
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Le document en format XML
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<author><name sortKey="Al Ghonaium, Abdulaziz" sort="Al Ghonaium, Abdulaziz" uniqKey="Al Ghonaium A" first="Abdulaziz" last="Al-Ghonaium">Abdulaziz Al-Ghonaium</name>
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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Clinical Features and Outcome of Patients With IRAK-4 and MyD88 Deficiency</title>
<author><name sortKey="Picard, Capucine" sort="Picard, Capucine" uniqKey="Picard C" first="Capucine" last="Picard">Capucine Picard</name>
</author>
<author><name sortKey="Von Bernuth, Horst" sort="Von Bernuth, Horst" uniqKey="Von Bernuth H" first="Horst" last="Von Bernuth">Horst Von Bernuth</name>
</author>
<author><name sortKey="Ghandil, Pegah" sort="Ghandil, Pegah" uniqKey="Ghandil P" first="Pegah" last="Ghandil">Pegah Ghandil</name>
</author>
<author><name sortKey="Chrabieh, Maya" sort="Chrabieh, Maya" uniqKey="Chrabieh M" first="Maya" last="Chrabieh">Maya Chrabieh</name>
</author>
<author><name sortKey="Levy, Ofer" sort="Levy, Ofer" uniqKey="Levy O" first="Ofer" last="Levy">Ofer Levy</name>
</author>
<author><name sortKey="Arkwright, Peter D" sort="Arkwright, Peter D" uniqKey="Arkwright P" first="Peter D." last="Arkwright">Peter D. Arkwright</name>
</author>
<author><name sortKey="Mcdonald, Douglas" sort="Mcdonald, Douglas" uniqKey="Mcdonald D" first="Douglas" last="Mcdonald">Douglas Mcdonald</name>
</author>
<author><name sortKey="Geha, Raif S" sort="Geha, Raif S" uniqKey="Geha R" first="Raif S." last="Geha">Raif S. Geha</name>
</author>
<author><name sortKey="Takada, Hidetoshi" sort="Takada, Hidetoshi" uniqKey="Takada H" first="Hidetoshi" last="Takada">Hidetoshi Takada</name>
</author>
<author><name sortKey="Krause, Jens C" sort="Krause, Jens C" uniqKey="Krause J" first="Jens C." last="Krause">Jens C. Krause</name>
</author>
<author><name sortKey="Creech, C Buddy" sort="Creech, C Buddy" uniqKey="Creech C" first="C. Buddy" last="Creech">C. Buddy Creech</name>
</author>
<author><name sortKey="Ku, Cheng Lung" sort="Ku, Cheng Lung" uniqKey="Ku C" first="Cheng-Lung" last="Ku">Cheng-Lung Ku</name>
</author>
<author><name sortKey="Ehl, Stephan" sort="Ehl, Stephan" uniqKey="Ehl S" first="Stephan" last="Ehl">Stephan Ehl</name>
</author>
<author><name sortKey="Ma Odi, Asz O" sort="Ma Odi, Asz O" uniqKey="Ma Odi " first=" Asz O" last="Ma Odi"> Asz O Ma Odi</name>
</author>
<author><name sortKey="Al Muhsen, Saleh" sort="Al Muhsen, Saleh" uniqKey="Al Muhsen S" first="Saleh" last="Al-Muhsen">Saleh Al-Muhsen</name>
</author>
<author><name sortKey="Al Hajjar, Sami" sort="Al Hajjar, Sami" uniqKey="Al Hajjar S" first="Sami" last="Al-Hajjar">Sami Al-Hajjar</name>
</author>
<author><name sortKey="Al Ghonaium, Abdulaziz" sort="Al Ghonaium, Abdulaziz" uniqKey="Al Ghonaium A" first="Abdulaziz" last="Al-Ghonaium">Abdulaziz Al-Ghonaium</name>
</author>
<author><name sortKey="Day Good, Noorbibi K" sort="Day Good, Noorbibi K" uniqKey="Day Good N" first="Noorbibi K." last="Day-Good">Noorbibi K. Day-Good</name>
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<author><name sortKey="Holland, Steven M" sort="Holland, Steven M" uniqKey="Holland S" first="Steven M." last="Holland">Steven M. Holland</name>
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<author><name sortKey="Gallin, John" sort="Gallin, John" uniqKey="Gallin J" first="John" last="Gallin">John Gallin</name>
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<author><name sortKey="Chapel, Helen" sort="Chapel, Helen" uniqKey="Chapel H" first="Helen" last="Chapel">Helen Chapel</name>
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<author><name sortKey="Speert, David P" sort="Speert, David P" uniqKey="Speert D" first="David P." last="Speert">David P. Speert</name>
</author>
<author><name sortKey="Rodriguez Gallego, Carlos" sort="Rodriguez Gallego, Carlos" uniqKey="Rodriguez Gallego C" first="Carlos" last="Rodriguez-Gallego">Carlos Rodriguez-Gallego</name>
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<author><name sortKey="Colino, Elena" sort="Colino, Elena" uniqKey="Colino E" first="Elena" last="Colino">Elena Colino</name>
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<author><name sortKey="Garty, Ben Zion" sort="Garty, Ben Zion" uniqKey="Garty B" first="Ben-Zion" last="Garty">Ben-Zion Garty</name>
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<author><name sortKey="Roifman, Chaim" sort="Roifman, Chaim" uniqKey="Roifman C" first="Chaim" last="Roifman">Chaim Roifman</name>
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<author><name sortKey="Yoshikawa, Hideto" sort="Yoshikawa, Hideto" uniqKey="Yoshikawa H" first="Hideto" last="Yoshikawa">Hideto Yoshikawa</name>
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<author><name sortKey="Nonoyama, Shigeaki" sort="Nonoyama, Shigeaki" uniqKey="Nonoyama S" first="Shigeaki" last="Nonoyama">Shigeaki Nonoyama</name>
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<author><name sortKey="Camcioglu, Yildiz" sort="Camcioglu, Yildiz" uniqKey="Camcioglu Y" first="Yildiz" last="Camcioglu">Yildiz Camcioglu</name>
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<author><name sortKey="Guedes, Margarida" sort="Guedes, Margarida" uniqKey="Guedes M" first="Margarida" last="Guedes">Margarida Guedes</name>
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<author><name sortKey="Vitor, Artur Bonito" sort="Vitor, Artur Bonito" uniqKey="Vitor A" first="Artur Bonito" last="Vitor">Artur Bonito Vitor</name>
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<author><name sortKey="Rodrigo, Carlos" sort="Rodrigo, Carlos" uniqKey="Rodrigo C" first="Carlos" last="Rodrigo">Carlos Rodrigo</name>
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<author><name sortKey="Alma An, Francisco" sort="Alma An, Francisco" uniqKey="Alma An F" first="Francisco" last="Alma An">Francisco Alma An</name>
</author>
<author><name sortKey=" Ndez, Maria" sort=" Ndez, Maria" uniqKey=" Ndez M" first="Maria" last=" Ndez">Maria Ndez</name>
</author>
<author><name sortKey="A Ostegui, Juan Ignacio" sort="A Ostegui, Juan Ignacio" uniqKey="A Ostegui J" first="Juan Ignacio" last="A Ostegui">Juan Ignacio A Ostegui</name>
</author>
<author><name sortKey="Alsina, Laia" sort="Alsina, Laia" uniqKey="Alsina L" first="Laia" last="Alsina">Laia Alsina</name>
</author>
<author><name sortKey="Fortuny, Claudia" sort="Fortuny, Claudia" uniqKey="Fortuny C" first="Claudia" last="Fortuny">Claudia Fortuny</name>
</author>
<author><name sortKey="Reichenbach, Janine" sort="Reichenbach, Janine" uniqKey="Reichenbach J" first="Janine" last="Reichenbach">Janine Reichenbach</name>
</author>
<author><name sortKey="Verbsky, James W" sort="Verbsky, James W" uniqKey="Verbsky J" first="James W" last="Verbsky">James W. Verbsky</name>
</author>
<author><name sortKey="Bossuyt, Xavier" sort="Bossuyt, Xavier" uniqKey="Bossuyt X" first="Xavier" last="Bossuyt">Xavier Bossuyt</name>
</author>
<author><name sortKey="Doffinger, Rainer" sort="Doffinger, Rainer" uniqKey="Doffinger R" first="Rainer" last="Doffinger">Rainer Doffinger</name>
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<author><name sortKey="Abel, Laurent" sort="Abel, Laurent" uniqKey="Abel L" first="Laurent" last="Abel">Laurent Abel</name>
</author>
<author><name sortKey="Puel, Anne" sort="Puel, Anne" uniqKey="Puel A" first="Anne" last="Puel">Anne Puel</name>
</author>
<author><name sortKey="Casanova, Jean Laurent" sort="Casanova, Jean Laurent" uniqKey="Casanova J" first="Jean-Laurent" last="Casanova">Jean-Laurent Casanova</name>
</author>
</analytic>
<series><title level="j">Medicine</title>
<idno type="ISSN">0025-7974</idno>
<idno type="eISSN">1536-5964</idno>
<imprint><date when="2010">2010</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
</fileDesc>
<profileDesc><textClass></textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en"><p id="P1">Autosomal recessive interleukin-1 receptor-associated kinase (IRAK)-4 and myeloid differentiation factor (MyD)88 deficiencies impair Toll-like receptor (TLR)- and interleukin-1 receptor-mediated immunity. We documented the clinical features and outcome of 48 patients with IRAK-4 deficiency and 12 patients with MyD88 deficiency, from 37 kindreds in 15 countries. The clinical features of IRAK-4 and MyD88 deficiency were indistinguishable. There were no severe viral, parasitic, and fungal diseases, and the range of bacterial infections was narrow. Noninvasive bacterial infections occurred in 52 patients, with a high incidence of infections of the upper respiratory tract and the skin, mostly caused by <italic>Pseudomonas aeruginosa</italic>
and <italic>Staphylococcus aureus,</italic>
respectively. The leading threat was invasive pneumococcal disease, documented in 41 patients (68%) and causing 72 documented invasive infections (52.2%). <italic>P. aeruginosa</italic>
and <italic>Staph. aureus</italic>
documented invasive infections also occurred (16.7% and 16%, respectively, in 25% and 25% of patients). Systemic signs of inflammation were usually weak or delayed. The first invasive infection occurred before the age of 2 years in 53 (88.3%) and in the neonatal period in 19 (32.7%) patients. Multiple or recurrent invasive infections were observed in most survivors (n = 36/50, 72%).</p>
</div>
</front>
</TEI>
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<tree><noCountry><name sortKey=" Ndez, Maria" sort=" Ndez, Maria" uniqKey=" Ndez M" first="Maria" last=" Ndez">Maria Ndez</name>
<name sortKey="A Ostegui, Juan Ignacio" sort="A Ostegui, Juan Ignacio" uniqKey="A Ostegui J" first="Juan Ignacio" last="A Ostegui">Juan Ignacio A Ostegui</name>
<name sortKey="Abel, Laurent" sort="Abel, Laurent" uniqKey="Abel L" first="Laurent" last="Abel">Laurent Abel</name>
<name sortKey="Al Ghonaium, Abdulaziz" sort="Al Ghonaium, Abdulaziz" uniqKey="Al Ghonaium A" first="Abdulaziz" last="Al-Ghonaium">Abdulaziz Al-Ghonaium</name>
<name sortKey="Al Hajjar, Sami" sort="Al Hajjar, Sami" uniqKey="Al Hajjar S" first="Sami" last="Al-Hajjar">Sami Al-Hajjar</name>
<name sortKey="Al Muhsen, Saleh" sort="Al Muhsen, Saleh" uniqKey="Al Muhsen S" first="Saleh" last="Al-Muhsen">Saleh Al-Muhsen</name>
<name sortKey="Alma An, Francisco" sort="Alma An, Francisco" uniqKey="Alma An F" first="Francisco" last="Alma An">Francisco Alma An</name>
<name sortKey="Alsina, Laia" sort="Alsina, Laia" uniqKey="Alsina L" first="Laia" last="Alsina">Laia Alsina</name>
<name sortKey="Arkwright, Peter D" sort="Arkwright, Peter D" uniqKey="Arkwright P" first="Peter D." last="Arkwright">Peter D. Arkwright</name>
<name sortKey="Bethune, Claire" sort="Bethune, Claire" uniqKey="Bethune C" first="Claire" last="Bethune">Claire Bethune</name>
<name sortKey="Bossuyt, Xavier" sort="Bossuyt, Xavier" uniqKey="Bossuyt X" first="Xavier" last="Bossuyt">Xavier Bossuyt</name>
<name sortKey="Camcioglu, Yildiz" sort="Camcioglu, Yildiz" uniqKey="Camcioglu Y" first="Yildiz" last="Camcioglu">Yildiz Camcioglu</name>
<name sortKey="Casanova, Jean Laurent" sort="Casanova, Jean Laurent" uniqKey="Casanova J" first="Jean-Laurent" last="Casanova">Jean-Laurent Casanova</name>
<name sortKey="Chapel, Helen" sort="Chapel, Helen" uniqKey="Chapel H" first="Helen" last="Chapel">Helen Chapel</name>
<name sortKey="Chrabieh, Maya" sort="Chrabieh, Maya" uniqKey="Chrabieh M" first="Maya" last="Chrabieh">Maya Chrabieh</name>
<name sortKey="Colino, Elena" sort="Colino, Elena" uniqKey="Colino E" first="Elena" last="Colino">Elena Colino</name>
<name sortKey="Creech, C Buddy" sort="Creech, C Buddy" uniqKey="Creech C" first="C. Buddy" last="Creech">C. Buddy Creech</name>
<name sortKey="Davies, E Graham" sort="Davies, E Graham" uniqKey="Davies E" first="E. Graham" last="Davies">E. Graham Davies</name>
<name sortKey="Day Good, Noorbibi K" sort="Day Good, Noorbibi K" uniqKey="Day Good N" first="Noorbibi K." last="Day-Good">Noorbibi K. Day-Good</name>
<name sortKey="De Ricaud, Dominique" sort="De Ricaud, Dominique" uniqKey="De Ricaud D" first="Dominique" last="De Ricaud">Dominique De Ricaud</name>
<name sortKey="Doffinger, Rainer" sort="Doffinger, Rainer" uniqKey="Doffinger R" first="Rainer" last="Doffinger">Rainer Doffinger</name>
<name sortKey="Domachowske, Joseph" sort="Domachowske, Joseph" uniqKey="Domachowske J" first="Joseph" last="Domachowske">Joseph Domachowske</name>
<name sortKey="Ehl, Stephan" sort="Ehl, Stephan" uniqKey="Ehl S" first="Stephan" last="Ehl">Stephan Ehl</name>
<name sortKey="Fortuny, Claudia" sort="Fortuny, Claudia" uniqKey="Fortuny C" first="Claudia" last="Fortuny">Claudia Fortuny</name>
<name sortKey="Gallin, John" sort="Gallin, John" uniqKey="Gallin J" first="John" last="Gallin">John Gallin</name>
<name sortKey="Garty, Ben Zion" sort="Garty, Ben Zion" uniqKey="Garty B" first="Ben-Zion" last="Garty">Ben-Zion Garty</name>
<name sortKey="Geha, Raif S" sort="Geha, Raif S" uniqKey="Geha R" first="Raif S." last="Geha">Raif S. Geha</name>
<name sortKey="Ghandil, Pegah" sort="Ghandil, Pegah" uniqKey="Ghandil P" first="Pegah" last="Ghandil">Pegah Ghandil</name>
<name sortKey="Guedes, Margarida" sort="Guedes, Margarida" uniqKey="Guedes M" first="Margarida" last="Guedes">Margarida Guedes</name>
<name sortKey="Hara, Toshiro" sort="Hara, Toshiro" uniqKey="Hara T" first="Toshiro" last="Hara">Toshiro Hara</name>
<name sortKey="Hoarau, Cyrille" sort="Hoarau, Cyrille" uniqKey="Hoarau C" first="Cyrille" last="Hoarau">Cyrille Hoarau</name>
<name sortKey="Holland, Steven M" sort="Holland, Steven M" uniqKey="Holland S" first="Steven M." last="Holland">Steven M. Holland</name>
<name sortKey="Issekutz, Andrew C" sort="Issekutz, Andrew C" uniqKey="Issekutz A" first="Andrew C." last="Issekutz">Andrew C. Issekutz</name>
<name sortKey="Krause, Jens C" sort="Krause, Jens C" uniqKey="Krause J" first="Jens C." last="Krause">Jens C. Krause</name>
<name sortKey="Ku, Cheng Lung" sort="Ku, Cheng Lung" uniqKey="Ku C" first="Cheng-Lung" last="Ku">Cheng-Lung Ku</name>
<name sortKey="Kumararatne, Dinakantha" sort="Kumararatne, Dinakantha" uniqKey="Kumararatne D" first="Dinakantha" last="Kumararatne">Dinakantha Kumararatne</name>
<name sortKey="Levy, Ofer" sort="Levy, Ofer" uniqKey="Levy O" first="Ofer" last="Levy">Ofer Levy</name>
<name sortKey="Ma Odi, Asz O" sort="Ma Odi, Asz O" uniqKey="Ma Odi " first=" Asz O" last="Ma Odi"> Asz O Ma Odi</name>
<name sortKey="Mcdonald, Douglas" sort="Mcdonald, Douglas" uniqKey="Mcdonald D" first="Douglas" last="Mcdonald">Douglas Mcdonald</name>
<name sortKey="Nonoyama, Shigeaki" sort="Nonoyama, Shigeaki" uniqKey="Nonoyama S" first="Shigeaki" last="Nonoyama">Shigeaki Nonoyama</name>
<name sortKey="Picard, Capucine" sort="Picard, Capucine" uniqKey="Picard C" first="Capucine" last="Picard">Capucine Picard</name>
<name sortKey="Puel, Anne" sort="Puel, Anne" uniqKey="Puel A" first="Anne" last="Puel">Anne Puel</name>
<name sortKey="Reichenbach, Janine" sort="Reichenbach, Janine" uniqKey="Reichenbach J" first="Janine" last="Reichenbach">Janine Reichenbach</name>
<name sortKey="Rodrigo, Carlos" sort="Rodrigo, Carlos" uniqKey="Rodrigo C" first="Carlos" last="Rodrigo">Carlos Rodrigo</name>
<name sortKey="Rodriguez Gallego, Carlos" sort="Rodriguez Gallego, Carlos" uniqKey="Rodriguez Gallego C" first="Carlos" last="Rodriguez-Gallego">Carlos Rodriguez-Gallego</name>
<name sortKey="Roifman, Chaim" sort="Roifman, Chaim" uniqKey="Roifman C" first="Chaim" last="Roifman">Chaim Roifman</name>
<name sortKey="Sirvent, Nicolas" sort="Sirvent, Nicolas" uniqKey="Sirvent N" first="Nicolas" last="Sirvent">Nicolas Sirvent</name>
<name sortKey="Smart, Joanne" sort="Smart, Joanne" uniqKey="Smart J" first="Joanne" last="Smart">Joanne Smart</name>
<name sortKey="Speert, David P" sort="Speert, David P" uniqKey="Speert D" first="David P." last="Speert">David P. Speert</name>
<name sortKey="Takada, Hidetoshi" sort="Takada, Hidetoshi" uniqKey="Takada H" first="Hidetoshi" last="Takada">Hidetoshi Takada</name>
<name sortKey="Tang, Mimi" sort="Tang, Mimi" uniqKey="Tang M" first="Mimi" last="Tang">Mimi Tang</name>
<name sortKey="Thrasher, Adrian" sort="Thrasher, Adrian" uniqKey="Thrasher A" first="Adrian" last="Thrasher">Adrian Thrasher</name>
<name sortKey="Vasconcelos, J Ulia" sort="Vasconcelos, J Ulia" uniqKey="Vasconcelos J" first="J Ulia" last="Vasconcelos">J Ulia Vasconcelos</name>
<name sortKey="Verbsky, James W" sort="Verbsky, James W" uniqKey="Verbsky J" first="James W" last="Verbsky">James W. Verbsky</name>
<name sortKey="Vitor, Artur Bonito" sort="Vitor, Artur Bonito" uniqKey="Vitor A" first="Artur Bonito" last="Vitor">Artur Bonito Vitor</name>
<name sortKey="Von Bernuth, Horst" sort="Von Bernuth, Horst" uniqKey="Von Bernuth H" first="Horst" last="Von Bernuth">Horst Von Bernuth</name>
<name sortKey="Yoshikawa, Hideto" sort="Yoshikawa, Hideto" uniqKey="Yoshikawa H" first="Hideto" last="Yoshikawa">Hideto Yoshikawa</name>
<name sortKey="Zitnik, Simona Eva" sort="Zitnik, Simona Eva" uniqKey="Zitnik S" first="Simona Eva" last="Zitnik">Simona Eva Zitnik</name>
</noCountry>
</tree>
</affiliations>
</record>
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