Results 11 to 20 of about 28,306 (175)

The efficacy and safety of allogeneic stem cell transplantation in Mevalonate Kinase Deficiency [PDF]

Pediatric Rheumatology Online Journal, 2022
Objectives Mevalonate kinase deficiency (MKD) is a rare autoinflammatory syndrome. Several reports have described allogeneic hematopoietic stem cell transplantation in severely affected patients, sometimes with promising results.
Jerold Jeyaratnam, Maura Faraci, Andrew R. Gennery, Katarzyna Drabko, Mattia Algeri, Akira Morimoto, Tiarlan Sirait, Arjan C. Lankester, Michael Albert, Benedicte Neven, Joost Frenkel, on behalf of the EBMT Inborn Errors Working Party   +11 more
doaj   +3 more sources

Increased core body temperature exacerbates defective protein prenylation in mouse models of mevalonate kinase deficiency [PDF]

The Journal of Clinical Investigation, 2022
Mevalonate kinase deficiency (MKD) is characterized by recurrent fevers and flares of systemic inflammation, caused by biallelic loss-of-function mutations in MVK.
Marcia A. Munoz, Oliver P. Skinner, Etienne Masle-Farquhar, Julie Jurczyluk, Ya Xiao, Emma K. Fletcher, Esther Kristianto, Mark P. Hodson, Seán I. O’Donoghue, Sandeep Kaur, Robert Brink, David G. Zahra, Elissa K. Deenick, Kristen A. Perry, Avril A.B. Robertson, Sam Mehr, Pravin Hissaria, Catharina M. Mulders-Manders, Anna Simon, Michael J. Rogers   +19 more
doaj   +3 more sources

Vasculitis in a patient with mevalonate kinase deficiency (MKD): a case report [PDF]

Pediatric Rheumatology Online Journal, 2021
Background Mevalonate kinase deficiency (MKD) is a rare autoinflammatory condition caused by biallelic loss-of-function (LOF) mutations in mevalonate kinase (MVK) gene encoding the enzyme mevalonate kinase.
Ebun Omoyinmi, Dorota Rowczenio, Neil Sebire, Paul A. Brogan, Despina Eleftheriou   +4 more
doaj   +3 more sources

Management of Mevalonate Kinase Deficiency: A Pediatric Perspective [PDF]

Frontiers in Immunology, 2020
Background: Mevalonate kinase deficiency (MKD) is an inborn error of metabolism leading to a syndrome characterized by recurrent inflammation. This clinically manifests itself as fever and can be accompanied by gastrointestinal symptoms, oral ulcers ...
Jerold Jeyaratnam, Joost Frenkel
doaj   +6 more sources

Case Report: Clinical application of an in vitro prenylation assay in the diagnosis of an early-onset case of mevalonate kinase deficiency harbouring a novel MVK variant [PDF]

Frontiers in Pediatrics
Mevalonate kinase deficiency (MKD) is a systemic autoinflammatory disease caused by biallelic mutations in MVK. Individuals with MKD present with a recurrent fever syndrome, often including a skin rash, gastrointestinal symptoms and lymphadenopathy.
Alice Burleigh, Ovgu Kul Cinar, Paul Torpiano, Marcia A. Munoz, Marcia A. Munoz, Charlotte Abell-King, Charlotte Abell-King, Michael J. Rogers, Michael J. Rogers, Despina Eleftheriou, Despina Eleftheriou, Paul A. Brogan, Paul A. Brogan   +12 more
doaj   +3 more sources

Tocilizumab for the Treatment of Mevalonate Kinase Deficiency [PDF]

Case Reports in Pediatrics, 2018
Mevalonate kinase deficiency (MKD) is a severe autoinflammatory disease caused by recessive mutations in MVK resulting in reduced function of the enzyme mevalonate kinase, involved in the cholesterol/isoprenoid pathway.
Nadia K. Rafiq, Helen Lachmann, Frodi Joensen, Troels Herlin, Paul A. Brogan   +4 more
doaj   +7 more sources

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

Pediatric Rheumatology Online Journal
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 ...
Yandie Li, Meiping Lu
doaj   +3 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   +4 more sources

Two Siblings With Recurrent Fevers: The Path to Mevalonate Kinase Deficiency Diagnosis. [PDF]

Cureus, 2023
Systemic autoinflammatory diseases (SAIDs) are a group of disorders that constitute a rare cause of recurrent fevers. Recurrent fevers are defined as periodic febrile episodes lasting from days to weeks, separated by symptom-free intervals of variable ...
Pereira-Nunes J, Ferreras C, Grangeia A, Aguiar F, Rodrigues M, Brito I.   +5 more
europepmc   +2 more sources

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