Pediatrics and Genetics

Diagnostic Utility of the Albumin-to-Globulin Ratio for Kawasaki Disease in Children Presenting to the Emergency Department

OBJECTIVES: Early diagnosis of Kawasaki disease (KD) is essential to prevent coronary artery complications but may be challenging in the emergency department (ED), particularly in patients who do not meet the complete clinical criteria. Although hypoalbuminemia is commonly used a...

Lysine iminylation derived from ω-3 polyunsaturated fatty acids

Protein posttranslational modifications (PTMs) play a central role for regulating protein function and cellular processes, with many PTMs arising from reactions with electrophilic metabolites. Here we extend the known landscape of PTMs with the identification of “lysine C 3 -imin...

Human-inherited RORγT deficiency encompasses genetic heterogeneity, T cell deficiency, and clinical homogeneity

Abstract We previously reported inherited RORγT deficiency in seven patients from three ancestries (Chilean, Palestinian, Saudi Arabian) with mycobacterial disease and chronic mucocutaneous candidiasis (CMC). We report here five additional patients from different ancestries (Afgh...

Complementary vertebrate Wac models exhibit phenotypes relevant to DeSanto-Shinawi Syndrome

Monogenic syndromes are associated with neurodevelopmental changes that result in cognitive impairments and neurobehavioral phenotypes, including autism and seizures. Limited studies and resources are available to make meaningful headway into the underlying molecular mechanisms t...

B Cell Mechanisms Underlie IgG Glycan Alterations in Obesity

Abstract Insulin resistance is a major complication of obesity. In adults with obesity insulin resistance is associated with a hyposialylation of the Fc-linked glycan on IgG, and a causal link between IgG hyposialylation and glucose dysregulation has been demonstrated in obese mi...