Purpose Availability of clinical genomic sequencing (CGS) has generated questions about
the value of genome and exome sequencing as a diagnostic tool. Analysis of reported CGS …

Autoinflammatory diseases are characterized by innate immunity abnormalities. In
autoinflammatory diseases (AID), inflammatory blood biomarkers are elevated during crisis …

Abstract Background The SLC29A3 gene, encoding a nucleoside transporter protein, is
found in intracellular membranes. Based on the literatures, mutations in this gene cause a …

Mutations in human equilibrative nucleoside transporter 3 (ENT3) encoded by SLC29A3
results in anemia and erythroid hypoplasia, suggesting that ENT3 may regulate …

Background Juvenile idiopathic arthritis is the most common chronic rheumatic disease of
childhood. The term JIA encompasses a heterogenous group of diseases. The variability in …

Abstract Tocilizumab, an anti-interleukin-6 (IL-6) agent, is indicated as a treatment for
several autoimmune or inflammatory diseases, including rheumatoid arthritis and juvenile …

Disorders caused by defects in lysosomal membrane transporters form a distinct subgroup
of lysosomal storage disorders (LSDs). To date, defects in only 10 lysosomal membrane …

Introduction H Syndrome is an autosomal recessive (AR) disease caused by defects in
SLCA29A3 gene. This gene encodes the equilibrative nucleoside transporter, the protein …

H syndrome is a rare autosomal recessive genetic disorder characterized by the following
clinical features: cutaneous hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart …

Background Mutations in the SLC29A3 gene, which encodes the nucleoside transporter
hENT3, have been implicated in syndromic forms of histiocytosis including H syndrome …