The extended clinical phenotype of 64 patients with dedicator of cytokinesis 8 deficiency

Date
2015
Author
Unal, Ekrem
CANT, Andrew J.
Jones, Alison
Gaspar, Bobby H.
ARKWRIGHT, Peter D.
PIETROGRANDE, Maria C.
BAZ, Zeina
AL-TAMEMI, Salem
LOUGARIS, Vassilios
GLOCKER, Cristina
SAGHAFI, Shiva
POURPAK, Zahra
CEJA, Ruben
SASSI, Atfa
Graham, Laura E.
Massaad, Michel J.
MELLOULI, Fethi
BEN-MUSTAPHA, Imen
KHEMIRI, Monia
Kilic, Sara Sebnem
ETZIONI, Amos
LEFRANC, Gerard
MEGARBANE, Andre
BOUTROS, Jeannette
GALAL, Nermeen
BEJAOUI, Mohamed
BARBOUCHE, Mohamed-Ridha
Geha, Raif S.
CHATILA, Talal A.
Grimbacher, Bodo
Camcioglu, Yildiz
Somer, Ayper
Engelhardt, Karin R.
GERTZ, Michael E.
KELES, Sevgi
SCHAEFFER, Alejandro A.
SIGMUND, Elena C.
FREEMAN, Alexandra F.
THIEL, Jens
SCHULZE, Ilka
Al-Herz, Waleed
METIN, Ayse
Sanal, Oezden
Tezcan, Ilhan
YEGANEH, Mehdi
NIEHUES, Tim
DUECKERS, Gregor
WEINSPACH, Sebastian
Patiroglu, Turkan
Dasouki, Majed
Yilmaz, Mustafa
GENEL, Ferah
AYTEKIN, Caner
Kutukculer, Necil
Kilic, Mehmet
Reisli, Ismail
GENNERY, Andrew R.
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Abstract
Background: Mutations in dedicator of cytokinesis 8 (DOCK8) cause a combined immunodeficiency (CID) also classified as autosomal recessive (AR) hyper-IgE syndrome (HIES). Recognizing patients with CID/HIES is of clinical importance because of the difference in prognosis and management.
URI
http://hdl.handle.net/20.500.12627/13551
https://doi.org/10.1016/j.jaci.2014.12.1945
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