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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, 20 Ekrem Unal 20 Majed Dasouki Mustafa Yilmaz 21 Ferah Genel 22 Caner Aytekin 23 Necil Kutukculer 24 Ayper Somer 25 Mehmet Kilic 26 Ismail Reisli 27 Yildiz Camcioglu 28 Andre Gennery 29 Andre Cant Alison Jones 1 Bobby H Gaspar Peter D Arkwright Maria C Pietrogrande 30 Zeina Baz 31 Salem Al-Tamemi 32 Vassilios Lougaris Gerard Lefranc 33, 34 Andre Megarbane 35 Jeannette Boutros Nermeen Galal 36 Mohamed Bejaoui 37 Mohamed-Ridha Barbouche 38 Raif S Geha Talal A Chatila 3 Bodo Grimbacher 13, 1 
Résumé : 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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Submitted on : Sunday, October 2, 2016 - 8:02:16 PM
Last modification on : Monday, October 17, 2022 - 9:44:05 AM

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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, 2015, 136 (2), pp.402-12. ⟨10.1016/j.jaci.2014.12.1945⟩. ⟨pasteur-01375035⟩

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