The extended clinical phenotype of 64 patients with dedicator of cytokinesis 8 deficiency
KR Engelhardt, ME Gertz, S Keles, AA Schäffer… - Journal of Allergy and …, 2015 - Elsevier
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 the
mutational spectrum of DOCK8 deficiency, and report on the frequency of specific clinical …
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 the
mutational spectrum of DOCK8 deficiency, and report on the frequency of specific clinical …