Literature summary for 2.7.1.36 extracted from

Lequerre, T.; Vittecoq, O.; Pouplin, S.; Klemmer, N.; Mejjad, O.; Daragon, A.; Prieur, A.M.; Le Loet, X.
Mevalonate kinase deficiency syndrome with structural damage responsive to anakinra (2007), Rheumatology, 46, 1860-1862.

Search for more literature for 2.7.1.36

Application

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

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

Organism	UniProt	Comment	Textmining
Homo sapiens	-	patient with mevalonate kinase deficiency	-

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Release 2023.1 (January 2023)