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

Karin R Engelhardt 1 Michael E Gertz 2 Sevgi Keles 3 Alejandro A Schäffer 2 Elena C Sigmund 4 Cristina Glocker 5 Shiva Saghafi 6 Zahra Pourpak 6 Ruben Ceja Atfa Sassi 7 Laura E Graham 8 Michel J Massaad Fethi Mellouli 9 Imen Ben-Mustapha 10 Monia Khemiri 11 Sara Sebnem Kilic Amos Etzioni Alexandra F Freeman 12 Jens Thiel 13 Ilka Schulze 13 Waleed Al-Herz 14 Ayse Metin 15 Özden Sanal Ilhan Tezcan 16 Mehdi Yeganeh 17 Tim Niehues 18 Gregor Dueckers Sebastian Weinspach 19 Turkan Patiroglu 20, 21 Ekrem Unal 20 Majed Dasouki Mustafa Yilmaz 22 Ferah Genel 23 Caner Aytekin 24 Necil Kutukculer 25 Ayper Somer 26 Mehmet Kilic 27 Ismail Reisli 28 Yildiz Camcioglu 29 Andre Gennery 30 Andre Cant Alison Jones 1 Bobby H Gaspar Peter D Arkwright Maria C Pietrogrande 31 Zeina Baz 32 Salem Al-Tamemi 33 Vassilios Lougaris Gerard Lefranc 34, 35 Andre Megarbane 36 Jeannette Boutros Nermeen Galal 37 Mohamed Bejaoui 38 Mohamed-Ridha Barbouche 39 Raif S Geha Talal A Chatila 3 Bodo Grimbacher 13, 1
Abstract : 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.
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Karin R Engelhardt, Michael E Gertz, Sevgi Keles, Alejandro A Schäffer, Elena C Sigmund, et al.. The extended clinical phenotype of 64 patients with dedicator of cytokinesis 8 deficiency.. Journal of Allergy and Clinical Immunology: In Practice, Elsevier, 2015, 136 (2), pp.402-12. ⟨10.1016/j.jaci.2014.12.1945⟩. ⟨pasteur-01375035⟩

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