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, ss.402-412, 2015 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 136 Konu: 2
  • Basım Tarihi: 2015
  • Doi Numarası: 10.1016/j.jaci.2014.12.1945
  • Dergi Adı: JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
  • Sayfa Sayıları: ss.402-412

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.