Article
Hyper-IgE syndromes: reviewing PGM3 deficiency.
Current opinion in pediatrics - 1 Dec 2014
Yang Linlin, Fliegauf Manfred, Grimbacher Bodo
Abstract excerpt
PURPOSE OF REVIEW: The hyper-IgE syndromes have been recognized as a group of primary immunodeficiencies characterized by eczema, recurrent skin and lung infections, and elevated serum IgE. Recently, mutations in phosphoglucomutase 3 (encoding PGM3, which is involved in the protein glycosylation pathway) have been identified in autosomal recessive forms of hyper-IgE syndromes. RECENT FINDINGS: Autosomal...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.
