Application | Comment | Organism |
---|---|---|
medicine | patient with mevalonate kinase deficiency due to mutation Q390P and a four-base deletion c.475-478 delACTG. Patient shows high serum immunoglobulin D, elevated mevalonaciduria and low mevalonate kinase activity in lymphocytes. Patient was treated with subcutaneous doses of anakinra. Most disease manifestations regressed dramatically and no new flares have occurred | Homo sapiens |
Protein Variants | Comment | Organism |
---|---|---|
Q390P | mutation determined in patient with mevalonate kinase deficiency. Gene additionally has a four-base deletion c.475-478 delACTG | Homo sapiens |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | - |
patient with mevalonate kinase deficiency | - |