Immunodeficiency-Like Phenotype, Recurrent Pulmonary Manifestations, and Persistent Polyarthritis: Mevalonate Kinase Deficiency Successfully Treated With Adalimumab [PDF]
The Turkish Journal of Gastroenterology, 2020 Mevalonate kinase deficiency (MKD) is an autosomal recessive autoinflammatory disorder characterized by fever starting in early infancy, lasting for three to seven days, recurring every one to two months, and accompanied by diarrhea, rash, abdominal ...
Mustafa ÇAKAN +3 more
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Novel compound heterozygous MVK variants cause early-onset mevalonic aciduria in a Chinese infant [PDF]
Frontiers in PediatricsMevalonate kinase deficiency (MKD) is a rare autosomal recessive autoinflammatory disorder caused by mevalonate kinase (MVK) gene mutations, with phenotypes ranging from mild hyper-IgD syndrome (HIDS) to severe mevalonic aciduria (MA).
Na Li +3 more
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Mevalonate kinase deficiencies: from mevalonic aciduria to hyperimmunoglobulinemia D syndrome [PDF]
Orphanet Journal of Rare Diseases, 2006 Mevalonic aciduria (MVA) and hyperimmunoglobulinemia D syndrome (HIDS) represent the two ends of a clinical spectrum of disease caused by deficiency of mevalonate kinase (MVK), the first committed enzyme of cholesterol biosynthesis.
Hoffmann Georg F, Haas Dorothea
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Molecular mechanisms responsible for neuroinflammation and neurological impairments in mevalonate kinase deficiency [PDF]
Molecular Genetics and Metabolism Reports, 2015 Maurizio Bifulco
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Hyper-IgD syndrome/mevalonate kinase deficiency: what is new? [PDF]
Seminars in Immunopathology, 2015 Anna Simon
exaly +2 more sources
Autoinflammatory disease syndrome of hyperimmunoglobulinemia D
Медицинский вестник Юга России, 2022 Objective: present a clinical case of a rare autoinflammatory disease. Materials and methods: an analysis of a clinical case of mevalonate kinase deficiency syndrome in an 8-year-old girl was carried out.
T. M. Somova
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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 +23 more
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A Distinct Phenotype of Mevalonic Acidemia with Absence of Pathogenic Mutations of Mevalonate Kinase Gene [PDF]
مجلة جامعة النجاح للأبحاث العلوم الطبيعية, 2016 Mevalonic aciduria is an autosomal recessive disorder caused by deficiency of mevalonate kinase and characterized by recurrent febrile crisis, ophthalmic and neurological manifestations.
Imad Dweikat, Nadera Damsa, Enas Naser
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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
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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. +6 more
openaire +4 more sources