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; Kilic, 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; Patiroglu, Turkan; Unal, Ekrem; Dasouki, Majed; Yilmaz, Mustafa; GENEL, Ferah; AYTEKIN, Caner; Kutukculer, Necil; Somer, Ayper; Kilic, Mehmet; Reisli, Ismail; 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

Atıf İçin Kopyala

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)

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
Anahtar Kelimeler: Primary combined immunodeficiency, hyper-IgE syndrome, autosomal recessive hyper-IgE syndrome, dedicator of cytokinesis 8, signal transducer and activator of transcription 3, Molluscum contagiosum, HYPER-IGE SYNDROME, BONE-MARROW-TRANSPLANTATION, STEM-CELL TRANSPLANTATION, DOCK8 DEFICIENCY, MUTATIONS, IMMUNODEFICIENCY, STAT3, GLYCOSYLATION, DISORDER, SURVIVAL
İstanbul Üniversitesi Adresli: Evet

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.