Results 21 to 30 of about 29,180 (194)

The 2021 EULAR/American College of Rheumatology Points to Consider for Diagnosis, Management and Monitoring of the Interleukin-1 Mediated Autoinflammatory Diseases: Cryopyrin-Associated Periodic Syndromes, Tumour Necrosis Factor Receptor-Associated Periodic Syndrome, Mevalonate Kinase Deficiency, and Deficiency of the Interleukin-1 Receptor Antagonist. [PDF]

Arthritis Rheumatol, 2022
The interleukin‐1 (IL‐1) mediated systemic autoinflammatory diseases, including the cryopyrin‐ associated periodic syndromes (CAPS), tumour necrosis factor receptor‐associated periodic syndrome (TRAPS), mevalonate kinase deficiency (MKD) and deficiency ...
Romano M, Arici ZS, Piskin D, Alehashemi S, Aletaha D, Barron K, Benseler S, Berard RA, Broderick L, Dedeoglu F, Diebold M, Durrant K, Ferguson P, Foell D, Hausmann JS, Jones OY, Kastner D, Lachmann HJ, Laxer RM, Rivera D, Ruperto N, Simon A, Twilt M, Frenkel J, Hoffman HM, de Jesus AA, Kuemmerle-Deschner JB, Ozen S, Gattorno M, Goldbach-Mansky R, Demirkaya E.   +30 more
europepmc   +2 more sources

PERIODIC FEVER SYNDROME (MEVALONATE KINASE DEFICIENCY, HYPERIMMUNOGLOBULINEMIA D SYNDROME) IN CHILDREN

Вопросы современной педиатрии, 2012
Periodic fever syndrome with mevalonate kinase deficiency, also known as hyperimmunoglobulinemia D syndrome, is characterized by early onset and relatively benign course.
Yu. S. Patrusheva, M. D. Bakradze
doaj   +2 more sources

Mevalonate kinase deficiency syndrome: Single center experience

Научно-практическая ревматология, 2021
The aim of this study was to analyze the clinical, laboratory and molecular genetic data of 26 patients (15 boys, 11 girls) diagnosed with mevalonate kinase deficiency syndrome (MKD).Subjects and methods.
A. L. Kozlova, V. O. Bludova, V. I. Burlakov, E. V. Raykina, T. V. Varlamova, М. А. Kurnikova, А. N. Remizov, G. V. Tereshchenko, А. А. Moiseeva, S. А. Dibirova, А. L. Khoreva, А. А. Roppelt, Yu. А. Rodina, N. B. Kuzmenko, А. А. Mukhina, Е. I. Каlashnikova, L. N. Igisheva, N. V. Martynova, О. V. Zhogova, S. B. Zimin, О. V. Barabanova, Yu. V. Kotova, G. А. Novichkova, А. Yu. Shcherbina   +23 more
doaj   +2 more sources

Tocilizumab for treating mevalonate kinase deficiency and TNF receptor-associated periodic syndrome: a case series and literature review. [PDF]

Pediatr Rheumatol Online J
Background Mevalonate kinase deficiency (MKD) and TNF receptor-associated periodic syndrome (TRAPS) are categorized as systemic autoinflammatory diseases (SAIDs), which are rare diseases characterized by early onset, severe conditions, and challenging ...
Li Y, Lu M.
europepmc   +2 more sources

Defective Protein Prenylation in a Spectrum of Patients With Mevalonate Kinase Deficiency [PDF]

Frontiers in Immunology, 2019
The rare autoinflammatory disease mevalonate kinase deficiency (MKD, which includes HIDS and mevalonic aciduria) is caused by recessive, pathogenic variants in the MVK gene encoding mevalonate kinase.
Marcia A. Munoz, Julie Jurczyluk, Anna Simon, Pravin Hissaria, Rob J. W. Arts, David Coman, David Coman, David Coman, Christina Boros, Sam Mehr, Michael J. Rogers   +10 more
doaj   +2 more sources

A Diagnostic Odyssey: Mevalonate Kinase Deficiency Revealed by Genetic Testing in Adulthood. [PDF]

Genes (Basel)
Mevalonate kinase deficiency (MKD) is a rare autosomal recessive autoinflammatory disorder with marked clinical heterogeneity, frequently leading to delayed diagnosis. We describe a 71-year-old woman with lifelong episodic inflammatory symptoms beginning
Kumar V, de Saint-Aubain CJ, Konstantinov KN.   +2 more
europepmc   +2 more sources

Mevalonate Kinase Deficiency and Squalene Synthase Inhibitor (TAK-475): The Balance to Extinguish the Inflammation [PDF]

Biomolecules, 2021
Mevalonate Kinase Deficiency (MKD) is a rare inborn disease belonging to the family of periodic fever syndromes. The MKD phenotype is characterized by systemic inflammation involving multiple organs, including the nervous system.
Erika Rimondi, Erica Valencic, Alberto Tommasini, Paola Secchiero, Elisabetta Melloni, Annalisa Marcuzzi   +5 more
doaj   +2 more sources

Perinatal Onset Mevalonate Kinase Deficiency

Pediatric and Developmental Pathology, 2011
Defects in mevalonate kinase, a critical rate-limiting enzyme in cholesterol and isoprene metabolism, have been associated with 2 clinical phenotypes: mevalonic aciduria, which presents in infancy or early childhood with growth failure, dysmorphic features, and neurologic disease; and hyperimmunoglobulinemia D and periodic fever syndrome, which usually
Laurie A, Steiner, Richard A, Ehrenkranz, Steven M, Peterec, Robert D, Steiner, Miguel, Reyes-Múgica, Patrick G, Gallagher   +5 more
openaire   +3 more sources

Neonatal Hydrops and Biliary Atresia as an Early Presentation of Mevalonate Kinase Deficiency: A Case Report. [PDF]

Cureus
Mevalonate kinase deficiency (MKD) is a rare autosomal recessive autoinflammatory disorder with a broad clinical spectrum. Neonatal presentation is uncommon and may mimic severe infection, leading to diagnostic delay.
Almomani SA, Ponnambath HIC, Yahya A.
europepmc   +2 more sources

Evolutionary hypothesis of the Mevalonate Kinase Deficiency

Medical Hypotheses, 2013
Mevalonate Kinase Deficiency (MKD) is an autosomal-recessively inherited disorder of cholesterol biosynthesis with higher prevalence in the Netherlands and other North European countries. MKD is due to mutations in the second enzyme of mevalonate pathway (mevalonate kinase, MK/MVK) which results in reduced enzymatic activity and in the consequent ...
VUCH, JOSEF, MARCUZZI, ANNALISA, Bianco AM, Tommasini A, Zanin V, CROVELLA, SERGIO   +5 more
core   +6 more sources