Application | Comment | Organism |
---|---|---|
medicine | patient with hyperimmunoglobulinemia D due to mutations of the gene coding for mevalonatekinase, and periodic fever syndrome. Treatment with etanercept with a dose of 0.8 mg/kg per week results in great improvement of both attacks and acute-phase response but with still persistent massive hepatosplenomegaly | Homo sapiens |
Protein Variants | Comment | Organism |
---|---|---|
E148Q | mutation detected in patient with hyperimmunoglobulinemia D and periodic fever syndrome | Homo sapiens |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | - |
patient with hyperimmunoglobulinemia D and periodic fever syndrome | - |