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., ...More

JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY, vol.136, no.2, pp.402-412, 2015 (Peer-Reviewed Journal) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 136 Issue: 2
  • Publication Date: 2015
  • Doi Number: 10.1016/j.jaci.2014.12.1945
  • Journal Name: JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
  • Journal Indexes: Science Citation Index Expanded, Scopus
  • Page Numbers: pp.402-412
  • Keywords: 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

Abstract

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.