Article
The clinical and laboratory spectrum of dedicator of cytokinesis 8 immunodeficiency syndrome in patients with a unique mutation.
Immunologic research - 1 Jun 2017
Broides Arnon, Mandola Amarilla B, Levy Jacov, Yerushalmi Baruch, Pinsk Vered, Eldan Michal, Shubinsky George, Hadad Nurit, Levy Rachel, Nahum Amit, Ben-Harosh Miriam, Lev Atar, Simon Amos, Somech Raz
Abstract excerpt
Mutations in the dedicator of cytokinesis 8 (DOCK8) gene cause a combined immunodeficiency usually diagnosed as autosomal recessive hyper IgE syndrome. We sought to reveal the varying manifestations in patients with a unique mutation in DOCK8 gene by a retrospective medical record review. Ten patients from five consanguineous families and three tribes were included. Seven patients were homozygous for the...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.