In the human body, glycogen is a branched polymer of glucose stored mainly in the liver and
the skeletal muscle that supplies glucose to the blood stream during fasting periods and to …

Unlike the complex glycans decorating the cell surface, the O-linked β-N-acetyl glucosamine
(O-GlcNAc) modification is a simple intracellular Ser/Thr-linked monosaccharide that is …

Information about normal hepatic glucose metabolism may help to understand pathogenic
mechanisms underlying obesity and diabetes mellitus. In addition, liver glucose metabolism …

The survey summarizes in its first part the current status of knowledge on the Congenital
Disorders of Glycosylation (CDG) with regard to their phenotypic spectrum, diagnostic and …

Background Primary immunodeficiency diseases (PIDDs) are clinically and genetically
heterogeneous disorders thus far associated with mutations in more than 300 genes. The …

Skeletal deformities are typical AD-HIES manifestations, which are mainly caused by
heterozygous and loss-of-function mutations in Signal transducer and activator of …

The American Academy of Allergy, Asthma & Immunology (AAAAI) and the American
College of Allergy, Asthma & Immunology (ACAAI) have jointly accepted responsibility for …

Mutations in DOCK8 result in autosomal recessive Hyper-IgE syndrome with combined
immunodeficiency (CID). However, the natural course of disease, long-term prognosis, and …

The hyper-IgE syndromes (HIES) are a heterogeneous group of inborn errors of immunity
sharing manifestations including increased infection susceptibility, eczema, and raised …

Heterozygosity for human signal transducer and activator of transcription 3 (STAT3)
dominant-negative (DN) mutations underlies an autosomal dominant form of hyper …