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

Engelhardt, Karin; Gertz, Michael; Keles, Sevgi; Schaeffer, Alejandro; Sigmund, Elena; Glocker, Cristina; Saghafi, Shiva; Pourpak, Zahra; Ceja, Ruben; Sassi, Atfa; Graham, Laura; Massaad, Michel; Mellouli, Fethi; Ben-Mustapha, Imen; Khemiri, Monia; KILIÇ, SARA; Etzioni, Amos; Freeman, Alexandra; Thiel, Jens; Schulze, Ilka; Al-Herz, Waleed; Metin, Ayse; Sanal, Oezden; Tezcan, Ilhan; Yeganeh, Mehdi; Niehues, Tim; Dueckers, Gregor; Weinspach, Sebastian; PATIROĞLU, TÜRKAN; ÜNAL, EKREM; Dasouki, Majed; YILMAZ, MUSTAFA; Genel, Ferah; Aytekin, Caner; KÜTÜKÇÜLER, NECİL; Somer, Ayper; KILIÇ, MEHMET; REİSLİ, İSMAİL; Camcioglu, Yildiz; Gennery, Andrew; Cant, Andrew; Jones, Alison; Gaspar, Bobby; Arkwright, Peter; Pietrogrande, Maria; Baz, Zeina; Al-Tamemi, Salem; Lougaris, Vassilios; Lefranc, Gerard; Megarbane, Andre; Boutros, Jeannette; Galal, Nermeen; Bejaoui, Mohamed; Barbouche, Mohamed-Ridha; Geha, Raif; Chatila, Talal; Grimbacher, Bodo

doi:10.1016/j.jaci.2014.12.1945

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

Engelhardt K. R., Gertz M. E., Keles S., Schaeffer A. A., Sigmund E. C., Glocker C., ...Daha Fazla

JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY, cilt.136, sa.2, ss.402-412, 2015 (SCI-Expanded, Scopus)

Yayın Türü: Makale / Tam Makale
Cilt numarası: 136 Sayı: 2
Basım Tarihi: 2015
Doi Numarası: 10.1016/j.jaci.2014.12.1945
Dergi Adı: JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
Sayfa Sayıları: ss.402-412
Çukurova Üniversitesi Adresli: Hayır

Özet

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.