Concepedia

MVK mutations and associated clinical features in Italian patients affected with autoinflammatory disorders and recurrent fever

Andrea D’Osualdo, Paolo Picco, Francesco Caroli, Marco Gattorno, R. Giacchino, P Fortini, Fabrizia Corona, Alberto Tommasini, Giuseppe Salvi, Fernando Specchia,

European Journal of Human Genetics · 2004 · 77 citations · 23 references

Open access

Concepts

Mendelian DisorderAutoimmune DiseaseDisease MechanismAutoinflammatory DisordersPathogenesisImmunologyPathologyAutoimmunityRecurrent FeverCommon DiseasesItalian PatientsAutoinflammatory DiseaseMedicineInborn Error Of ImmunityMvk Mutations

References

23

Mutations in the gene encoding mevalonate kinase cause hyper-IgD and periodic fever syndrome

Joost P.H. Drenth, Laurence Cuisset, Gilles Grateau et al. · Nature Genetics · 1999 · 554 citations

Periodic Fever Syndrome, Autoimmune Disease, Disease Mechanism +10

Mutations in MVK, encoding mevalonate kinase, cause hyperimmunoglobulinaemia D and periodic fever syndrome

Sander M. Houten, Wietse Kuis, Marinus Duran et al. · Nature Genetics · 1999 · 520 citations

Cause Hyperimmunoglobulinaemia D, Periodic Fever Syndrome, Autoimmune Disease +11

Hyperimmunoglobulinemia D and Periodic Fever Syndrome

Joost P.H. Drenth, C.J. Haagsma, J.W.M. van der Meer · Medicine · 1994 · 396 citations

HYPERIMMUNOGLOBULINAEMIA D AND PERIODIC FEVER: A NEW SYNDROME

JosW.M. Van Der Meer, J Rádl, ChrisJ.L.M. Meyer et al. · The Lancet · 1984 · 330 citations

Autoimmune Disease, Immunology, Autoimmunity +5

Infevers: An evolving mutation database for auto-inflammatory syndromes

Isabelle Touitou, Suzanne Lesage, Michael McDermott et al. · Human Mutation · 2004 · 316 citations