Literature summary for 2.7.1.36 extracted from

Topaloglu, R.; Ayaz, N.A.; Waterham, H.R.; Yuece, A.; Gumruk, F.; Sanal, O.
Hyperimmunoglobulinemia D and periodic fever syndrome; treatment with etanercept and follow-up (2008), Clin. Rheumatol., 27, 1317-1320.

Search for more literature for 2.7.1.36

Application

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

Protein Variants	Comment	Organism
E148Q	mutation detected in patient with hyperimmunoglobulinemia D and periodic fever syndrome	Homo sapiens

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	-	patient with hyperimmunoglobulinemia D and periodic fever syndrome	-

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Release 2023.1 (January 2023)