Article
The extended clinical phenotype of 64 patients with dedicator of cytokinesis 8 deficiency.
The Journal of allergy and clinical immunology - 1 Aug 2015
Engelhardt Karin R, Gertz Michael E, Keles Sevgi, Schäffer Alejandro A, Sigmund Elena C, 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, Freeman Alexandra F, Thiel Jens, Schulze Ilka, Al-Herz Waleed, Metin Ayse, Sanal Özden, Tezcan Ilhan, Yeganeh Mehdi, Niehues Tim, Dueckers Gregor, Weinspach Sebastian, Patiroglu Turkan, Unal Ekrem, Dasouki Majed, Yilmaz Mustafa, Genel Ferah, Aytekin Caner, Kutukculer Necil, Somer Ayper, Kilic Mehmet, Reisli Ismail, Camcioglu Yildiz, Gennery Andrew R, Cant Andrew J, Jones Alison, Gaspar Bobby H, Arkwright Peter D, Pietrogrande Maria C, Baz Zeina, Al-Tamemi Salem, Lougaris Vassilios, Lefranc Gerard, Megarbane Andre, Boutros Jeannette, Galal Nermeen, Bejaoui Mohamed, Barbouche Mohamed-Ridha, Geha Raif S, Chatila Talal A, Grimbacher Bodo
Abstract excerpt
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. OBJECTIVES: We sought to define the clinical features that distinguish DOCK8 deficiency from other forms of HIES and CIDs, study...
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