Results 41 to 50 of about 28,306 (175)

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, an

Annals of the Rheumatic Diseases, 2022
Background 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 ...
M. Romano, Z. S. Arici, D. Piskin, S. Alehashemi, D. Aletaha, K. Barron, S. Benseler, R. Berard, L. Broderick, F. Dedeoğlu, M. Diebold, K. Durrant, P. Ferguson, D. Foell, J. Hausmann, O. Jones, D. Kastner, H. Lachmann, R. Laxer, D. Rivera, N. Ruperto, A. Simon, M. Twilt, J. Frenkel, H. Hoffman, A. D. de Jesus, J. Kuemmerle-Deschner, S. Ozen, M. Gattorno, R. Goldbach-Mansky, E. Demirkaya   +30 more
semanticscholar   +1 more source

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   +1 more source

The challenge of Mevalonate Kinase Deficiency as one of the causes of nonimmune hydrops fetalis

Ginekologia Polska
Aleksandra Mikolajczak, Katarzyna Bernat-Sitarz   +1 more
doaj   +2 more sources

A case of mevalonate kinase deficiency, neonatal Sweet syndrome, and inflammatory bowel disease

Pediatric dermatology, 2023
Mevalonate kinase deficiency is a group of rare metabolic autoinflammatory disorders that present with recurrent fevers, abdominal pain, arthralgias, adenopathy, and a variety of cutaneous manifestations.
Negar Esfandiari, Santana Vandyke, Hannah J Porter, Katelyn Shea, Keith Morley, Laura Greene   +5 more
semanticscholar   +1 more source

Case Report: Mevalonic Aciduria Complicated by Acute Myeloid Leukemia After Hematopoietic Stem Cell Transplantation

Frontiers in Immunology, 2021
Mevalonic aciduria (MA) is the most severe clinical subtype of mevalonate kinase deficiency (MKD) caused by an inherited defect in the mevalonate pathway.
Hyery Kim, Hyery Kim, Beom Hee Lee, Beom Hee Lee, Hyo-Sang Do, Gu-Hwan Kim, Sunghan Kang, Sunghan Kang, Kyung-Nam Koh, Kyung-Nam Koh, Ho Joon Im, Ho Joon Im   +11 more
doaj   +1 more source

Interpretation on 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

Xiehe Yixue Zazhi, 2023
Interleukin-1 mediated autoinflammatory diseases, a large class of autoinflammatory diseases characterized by increased release of interleukin-1 or activation of the interleukin-1 pathway, mainly include familial Mediterranean fever, cryopyrin-associated
ZHOU Yu, SONG Hongmei
doaj   +1 more source

Neurological manifestations in mevalonate kinase deficiency: A systematic review.

Molecular Genetics and Metabolism, 2022
INTRODUCTION Mevalonate kinase deficiency (MKD) is a monogenic auto-inflammatory disease. Its manifestations range from partial MKD to mevalonic aciduria (MVA).
I. Elhani, V. Hentgen, G. Grateau, S. Georgin-lavialle   +3 more
semanticscholar   +1 more source

Mevalonate kinase deficiency

Neurology, 2004
Both mevalonic aciduria, characterized by psychomotor retardation, cerebellar ataxia, recurrent fever attacks, and death in early childhood, and hyper-immunoglobulin D (hyper-IgD) syndrome, with recurrent fever attacks without neurologic symptoms, are caused by a functional deficiency of mevalonate kinase.
Simon, A., Kremer, H.P.H., Wevers, R.A., Scheffer, H., Jong, J.G.N. de, Meer, J.W.M. van der, Drenth, J.P.H.   +6 more
openaire   +5 more sources

Twists and turns of the genetic story of mevalonate kinase-associated diseases: A review

Genes and Diseases, 2022
Mevalonate kinase (MK)-associated diseases encompass a broad spectrum of rare auto-inflammatory conditions, all resulting from pathogenic variants in the mevalonate kinase gene (MVK).
Isabelle Touitou
doaj   +1 more source

Lack of Prenylated Proteins, Autophagy Impairment and Apoptosis in SH-SY5Y Neuronal Cell Model of Mevalonate Kinase Deficiency

Cellular Physiology and Biochemistry, 2017
Background/Aims: Mevalonate Kinase Deficiency (MKD), is a hereditary disease due to mutations in mevalonate kinase gene (MVK). MKD has heterogeneous clinical phenotypes: the correlation between MVK mutations and MKD clinical phenotype is still to be ...
Paola Maura Tricarico, Alessandra Romeo, Rossella Gratton, Sergio Crovella, Fulvio Celsi   +4 more
doaj   +1 more source