Inherited DOCK2 Deficiency in Patients with Early-Onset Invasive Infections
Inherited DOCK2 Deficiency in Patients with Early-Onset Invasive Infections
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Author / Creator
Dobbs, Kerry , Domínguez Conde, Cecilia , Zhang, Shen-Ying , Parolini, Silvia , Audry, Magali , Chou, Janet , Haapaniemi, Emma , Keles, Sevgi , Bilic, Ivan , Okada, Satoshi , Massaad, Michel J , Rounioja, Samuli , Alwahadneh, Adel M , Serwas, Nina K , Capuder, Kelly , Çiftçi, Ergin , Felgentreff, Kerstin , Ohsumi, Toshiro K , Pedergnana, Vincent , Boisson, Bertrand , Haskoloğlu, Şule , Ensari, Arzu , Schuster, Michael , Moretta, Alessandro , Itan, Yuval , Patrizi, Ornella , Rozenberg, Flore , Lebon, Pierre , Saarela, Janna , Knip, Mikael , Petrovski, Slavé , Goldstein, David B , Parrott, Roberta E , Savas, Berna , Schambach, Axel , Tabellini, Giovanna , Bock, Christoph , Chatila, Talal A , Comeau, Anne Marie , Geha, Raif S , Abel, Laurent , Buckley, Rebecca H , İkincioğulları, Aydan , Al-Herz, Waleed , Helminen, Merja , Doğu, Figen , Casanova, Jean-Laurent , Boztuğ, Kaan and Notarangelo, Luigi D
Publisher
United States: Massachusetts Medical Society
Journal title
Language
English
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Publication information
Publisher
United States: Massachusetts Medical Society
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More information
Scope and Contents
Contents
In this study,
DOCK2
mutations were linked to an autosomal recessive form of congenital immunodeficiency and early-onset bacterial and viral infections. Allogeneic hematopoietic stem-cell transplantation led to normalization of T-cell function and clinical improvement.
Combined immunodeficiencies comprise a heterogeneous group of inherited...
Alternative Titles
Full title
Inherited DOCK2 Deficiency in Patients with Early-Onset Invasive Infections
Authors, Artists and Contributors
Author / Creator
Domínguez Conde, Cecilia
Zhang, Shen-Ying
Parolini, Silvia
Audry, Magali
Chou, Janet
Haapaniemi, Emma
Keles, Sevgi
Bilic, Ivan
Okada, Satoshi
Massaad, Michel J
Rounioja, Samuli
Alwahadneh, Adel M
Serwas, Nina K
Capuder, Kelly
Çiftçi, Ergin
Felgentreff, Kerstin
Ohsumi, Toshiro K
Pedergnana, Vincent
Boisson, Bertrand
Haskoloğlu, Şule
Ensari, Arzu
Schuster, Michael
Moretta, Alessandro
Itan, Yuval
Patrizi, Ornella
Rozenberg, Flore
Lebon, Pierre
Saarela, Janna
Knip, Mikael
Petrovski, Slavé
Goldstein, David B
Parrott, Roberta E
Savas, Berna
Schambach, Axel
Tabellini, Giovanna
Bock, Christoph
Chatila, Talal A
Comeau, Anne Marie
Geha, Raif S
Abel, Laurent
Buckley, Rebecca H
İkincioğulları, Aydan
Al-Herz, Waleed
Helminen, Merja
Doğu, Figen
Casanova, Jean-Laurent
Boztuğ, Kaan
Notarangelo, Luigi D
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Primary Identifiers
Record Identifier
TN_cdi_proquest_miscellaneous_1690211034
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_1690211034
Other Identifiers
ISSN
0028-4793
E-ISSN
1533-4406
DOI
10.1056/NEJMoa1413462
